LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
Italian (Southern)
Study Design
A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
Conclusions
After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.

Variants (316)

No gene

1.
Identifier
rs523605
Cytogenetic Location
2.
Identifier
rs2244175
Cytogenetic Location
3.
Identifier
rs2852432
Cytogenetic Location
4.
Identifier
rs7566506
Cytogenetic Location
5.
Identifier
rs2727308
Cytogenetic Location
6.
Identifier
rs604203
Cytogenetic Location
7.
Identifier
rs17061503
Cytogenetic Location

ACACA

1.
Identifier
rs2302800
Cytogenetic Location
17q12
UCSC Genome Browser
View 17q12 on the UCSC genome browser
2.
Identifier
rs732770
Cytogenetic Location
17q12
UCSC Genome Browser
View 17q12 on the UCSC genome browser
3.
Identifier
rs11659129
Cytogenetic Location
17q12
UCSC Genome Browser
View 17q12 on the UCSC genome browser

Gene details

HGNC symbol
ACACA
Aliases
ACC; ACAC; ACC1; ACCA; ACACAD 
Common name
acetyl-CoA carboxylase alpha 
Description
Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
200350
Ensembl
ENSG00000278540
UniProt/Swiss-Prot
A0A024R0Y2_HUMAN
Entrez Gene
31
UniGene
160556
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
acaca
Mus musculus
Acaca
Rattus norvegicus
Acaca
Saccharomyces cerevisiae
HFA1

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as HFA1

AKT1

1.
Identifier
rs2494732
In Other Studies (IDs)
1274
Cytogenetic Location
14q32.33
UCSC Genome Browser
View 14q32.33 on the UCSC genome browser

Gene details

HGNC symbol
AKT1
Aliases
AKT; PKB; RAC; CWS6; PRKBA; PKB-ALPHA; RAC-ALPHA 
Common name
AKT serine/threonine kinase 1 
Description
The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]
Other longevity studies of this gene
9
OMIM
164730
Ensembl
ENSG00000142208
UniProt/Swiss-Prot
AKT1_HUMAN
Entrez Gene
207
UniGene
525622
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Akt1
Rattus norvegicus
Akt1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Akt1
GenAge human genes
  • This gene is present as AKT1
CellAge
  • This gene is present as AKT1

ANKK1

1.
Identifier
rs1800497
Cytogenetic Location
11q23.2
UCSC Genome Browser
View 11q23.2 on the UCSC genome browser

Gene details

HGNC symbol
ANKK1
Aliases
PKK2 
Common name
ankyrin repeat and kinase domain containing 1 
Description
The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and protein kinase superfamily involved in signal transduction pathways. This gene is closely linked to DRD2 gene (GeneID:1813) on chr 11, and a well studied restriction fragment length polymorphism (RFLP) designated TaqIA, was originally associated with the DRD2 gene, however, later was determined to be located in exon 8 of ANKK1 gene (PMIDs: 18621654, 15146457), where it causes a nonconservative amino acid substitution. It is not clear if this gene plays any role in neuropsychiatric disorders previously associated with Taq1A RFLP. [provided by RefSeq, Sep 2009]
OMIM
608774
Ensembl
ENSG00000170209
UniProt/Swiss-Prot
ANKK1_HUMAN
Entrez Gene
255239
UniGene
448473
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ankk1
Mus musculus
Ankk1
Rattus norvegicus
Ankk1

ANKRD24

1.
Identifier
rs352496
Cytogenetic Location
19p13.3
UCSC Genome Browser
View 19p13.3 on the UCSC genome browser

Gene details

HGNC symbol
ANKRD24
Aliases
 
Common name
ankyrin repeat domain 24 
Description
OMIM
Ensembl
ENSG00000089847
UniProt/Swiss-Prot
ANR24_HUMAN
Entrez Gene
170961
UniGene
197872
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ankrd24
Mus musculus
Ankrd24
Rattus norvegicus
uncharacterized_D3Z9

APEX1

1.
Identifier
rs3136820
Cytogenetic Location
14q11.2
UCSC Genome Browser
View 14q11.2 on the UCSC genome browser

Gene details

HGNC symbol
APEX1
Aliases
APE; APX; APE1; APEN; APEX; HAP1; REF1 
Common name
apurinic/apyrimidinic endodeoxyribonuclease 1 
Description
Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
107748
Ensembl
ENSG00000100823
UniProt/Swiss-Prot
APEX1_HUMAN
Entrez Gene
328
UniGene
73722
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
exo-3
Danio rerio
apex1
Mus musculus
Apex1
Rattus norvegicus
Apex1

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as exo-3
GenAge human genes
  • This gene is present as APEX1

ARNTL

1.
Identifier
rs3789327
Cytogenetic Location
11p15.3
UCSC Genome Browser
View 11p15.3 on the UCSC genome browser
2.
Identifier
rs2279287
Cytogenetic Location
11p15.3
UCSC Genome Browser
View 11p15.3 on the UCSC genome browser
3.
Identifier
rs1982350
Cytogenetic Location
11p15.3
UCSC Genome Browser
View 11p15.3 on the UCSC genome browser
4.
Identifier
rs2278749
Cytogenetic Location
11p15.3
UCSC Genome Browser
View 11p15.3 on the UCSC genome browser

Gene details

HGNC symbol
ARNTL
Aliases
TIC; JAP3; MOP3; BMAL1; PASD3; BMAL1c; bHLHe5 
Common name
aryl hydrocarbon receptor nuclear translocator like 
Description
The protein encoded by this gene is a basic helix-loop-helix protein that forms a heterodimer with CLOCK. This heterodimer binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Defects in this gene have been linked to infertility, problems with gluconeogenesis and lipogenesis, and altered sleep patterns. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Other longevity studies of this gene
3
OMIM
602550
Ensembl
ENSG00000133794
UniProt/Swiss-Prot
A0A140VKD3_HUMAN
Entrez Gene
406
UniGene
65734
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
arntl1b
Mus musculus
Arntl
Rattus norvegicus
Arntl

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Arntl
GenAge human genes
  • This gene is present as ARNTL
GenDR gene expression
  • A homolog of this gene for Mus musculus is present as Arntl

ATM

1.
Identifier
rs664677
In Other Studies (IDs)
2718
Cytogenetic Location
11q22.3
UCSC Genome Browser
View 11q22.3 on the UCSC genome browser
2.
Identifier
rs3092859
Cytogenetic Location
11q22.3
UCSC Genome Browser
View 11q22.3 on the UCSC genome browser
3.
Identifier
rs1801516
In Other Studies (IDs)
2827
Cytogenetic Location
11q22.3
UCSC Genome Browser
View 11q22.3 on the UCSC genome browser
4.
Identifier
rs611646
In Other Studies (IDs)
2781
Cytogenetic Location
11q22.3
UCSC Genome Browser
View 11q22.3 on the UCSC genome browser
5.
Identifier
rs227040
Cytogenetic Location
11q22.3
UCSC Genome Browser
View 11q22.3 on the UCSC genome browser

Gene details

HGNC symbol
ATM
Aliases
AT1; ATA; ATC; ATD; ATE; ATDC; TEL1; TELO1 
Common name
ATM serine/threonine kinase 
Description
The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]
Other longevity studies of this gene
14
OMIM
607585
Ensembl
ENSG00000149311
UniProt/Swiss-Prot
A0A024R3C7_HUMAN
Entrez Gene
472
UniGene
367437
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
atm
Drosophila melanogaster
tefu
Mus musculus
Atm
Rattus norvegicus
Atm

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Atm
GenAge human genes
  • This gene is present as ATM
CellAge
  • This gene is present as ATM

ATR

1.
Identifier
rs10804682
In Other Studies (IDs)
2863
Cytogenetic Location
3q23
UCSC Genome Browser
View 3q23 on the UCSC genome browser
2.
Identifier
rs9855919
Cytogenetic Location
3q23
UCSC Genome Browser
View 3q23 on the UCSC genome browser
3.
Identifier
rs2227928
In Other Studies (IDs)
2899
Cytogenetic Location
3q23
UCSC Genome Browser
View 3q23 on the UCSC genome browser

Gene details

HGNC symbol
ATR
Aliases
FRP1; MEC1; SCKL; FCTCS; SCKL1 
Common name
ATR serine/threonine kinase 
Description
The protein encoded by this gene belongs the PI3/PI4-kinase family, and is most closely related to ATM, a protein kinase encoded by the gene mutated in ataxia telangiectasia. This protein and ATM share similarity with Schizosaccharomyces pombe rad3, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This kinase has been shown to phosphorylate checkpoint kinase CHK1, checkpoint proteins RAD17, and RAD9, as well as tumor suppressor protein BRCA1. Mutations of this gene are associated with Seckel syndrome. An alternatively spliced transcript variant of this gene has been reported, however, its full length nature is not known. Transcript variants utilizing alternative polyA sites exist. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
10
OMIM
601215
Ensembl
ENSG00000175054
UniProt/Swiss-Prot
ATR_HUMAN
Entrez Gene
545
UniGene
271791
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
atr
Drosophila melanogaster
mei-41
Mus musculus
Atr
Rattus norvegicus
Atr
Saccharomyces cerevisiae
MEC1
Schizosaccharomyces pombe
rad3

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as MEC1
GenAge human genes
  • This gene is present as ATR

BAD

1.
Identifier
rs671976
Cytogenetic Location
11q13.1
UCSC Genome Browser
View 11q13.1 on the UCSC genome browser

Gene details

HGNC symbol
BAD
Aliases
BBC2; BCL2L8 
Common name
BCL2 associated agonist of cell death 
Description
The protein encoded by this gene is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Jul 2008]
OMIM
603167
Ensembl
ENSG00000002330
UniProt/Swiss-Prot
A0A024R562_HUMAN
Entrez Gene
572
UniGene
370254
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
badb
Mus musculus
Bad
Rattus norvegicus
Bad

BAX

1.
Identifier
rs4645878
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser
2.
Identifier
rs1805419
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser

Gene details

HGNC symbol
BAX
Aliases
BCL2L4 
Common name
BCL2 associated X, apoptosis regulator 
Description
The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
600040
Ensembl
ENSG00000087088
UniProt/Swiss-Prot
BAX_HUMAN
Entrez Gene
581
UniGene
624291
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
baxa
Mus musculus
Bax
Rattus norvegicus
Bax

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Bax
GenAge human genes
  • This gene is present as BAX

C17orf78

1.
Identifier
rs829152
Cytogenetic Location
17q12
UCSC Genome Browser
View 17q12 on the UCSC genome browser

Gene details

HGNC symbol
C17orf78
Aliases
 
Common name
chromosome 17 open reading frame 78 
Description
OMIM
Ensembl
ENSG00000278505
UniProt/Swiss-Prot
CQ078_HUMAN
Entrez Gene
284099
UniGene
439154
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Gm11437
Rattus norvegicus
LOC100361746

CAT

1.
Identifier
rs1001179
Cytogenetic Location
11p13
UCSC Genome Browser
View 11p13 on the UCSC genome browser
2.
Identifier
rs11032700
Cytogenetic Location
11p13
UCSC Genome Browser
View 11p13 on the UCSC genome browser
3.
Identifier
rs533425
Cytogenetic Location
11p13
UCSC Genome Browser
View 11p13 on the UCSC genome browser
4.
Identifier
rs2300181
Cytogenetic Location
11p13
UCSC Genome Browser
View 11p13 on the UCSC genome browser
5.
Identifier
rs554576
Cytogenetic Location
11p13
UCSC Genome Browser
View 11p13 on the UCSC genome browser
6.
Identifier
rs10488736
In Other Studies (IDs)
2764
Cytogenetic Location
11p13
UCSC Genome Browser
View 11p13 on the UCSC genome browser

Gene details

HGNC symbol
CAT
Aliases
 
Common name
catalase 
Description
This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]
Other longevity studies of this gene
17
OMIM
115500
Ensembl
ENSG00000121691
UniProt/Swiss-Prot
CATA_HUMAN
Entrez Gene
847
UniGene
502302
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
ctl-3
Danio rerio
cat
Drosophila melanogaster
CG9314
Mus musculus
Cat
Rattus norvegicus
Cat
Saccharomyces cerevisiae
CTA1
Schizosaccharomyces pombe
cta1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Cat
  • A homolog of this gene for Saccharomyces cerevisiae is present as CTA1
GenAge human genes
  • This gene is present as CAT

CCND1

1.
Identifier
rs649392
Cytogenetic Location
11q13.3
UCSC Genome Browser
View 11q13.3 on the UCSC genome browser
2.
Identifier
rs603965
Cytogenetic Location
11q13.3
UCSC Genome Browser
View 11q13.3 on the UCSC genome browser

Gene details

HGNC symbol
CCND1
Aliases
BCL1; PRAD1; U21B31; D11S287E 
Common name
cyclin D1 
Description
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
168461
Ensembl
ENSG00000110092
UniProt/Swiss-Prot
CCND1_HUMAN
Entrez Gene
595
UniGene
523852
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ccnd1
Mus musculus
Ccnd1
Rattus norvegicus
Ccnd1

In other databases

CellAge
  • This gene is present as CCND1

CD14

1.
Identifier
rs2569190
In Other Studies (IDs)
2140
Cytogenetic Location
5q31.3
UCSC Genome Browser
View 5q31.3 on the UCSC genome browser

Gene details

HGNC symbol
CD14
Aliases
 
Common name
CD14 molecule 
Description
The protein encoded by this gene is a surface antigen that is preferentially expressed on monocytes/macrophages. It cooperates with other proteins to mediate the innate immune response to bacterial lipopolysaccharide. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Mar 2010]
Other longevity studies of this gene
5
OMIM
158120
Ensembl
ENSG00000170458
UniProt/Swiss-Prot
CD14_HUMAN
Entrez Gene
929
UniGene
163867
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Cd14
Rattus norvegicus
Cd14

CDKN1B

1.
Identifier
rs34330
Cytogenetic Location
12p13.1
UCSC Genome Browser
View 12p13.1 on the UCSC genome browser
2.
Identifier
rs2066827
Cytogenetic Location
12p13.1
UCSC Genome Browser
View 12p13.1 on the UCSC genome browser
3.
Identifier
rs34329
Cytogenetic Location
12p13.1
UCSC Genome Browser
View 12p13.1 on the UCSC genome browser

Gene details

HGNC symbol
CDKN1B
Aliases
KIP1; MEN4; CDKN4; MEN1B; P27KIP1 
Common name
cyclin dependent kinase inhibitor 1B 
Description
This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]
Other longevity studies of this gene
2
OMIM
600778
Ensembl
ENSG00000111276
UniProt/Swiss-Prot
CDN1B_HUMAN
Entrez Gene
1027
UniGene
238990
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
cki-2
Danio rerio
cdkn1ba
Mus musculus
Cdkn1b
Rattus norvegicus
Cdkn1b

In other databases

CellAge
  • This gene is present as CDKN1B

CDKN2A

1.
Identifier
rs3088440
Cytogenetic Location
9p21.3
UCSC Genome Browser
View 9p21.3 on the UCSC genome browser
2.
Identifier
rs11515
Cytogenetic Location
9p21.3
UCSC Genome Browser
View 9p21.3 on the UCSC genome browser
3.
Identifier
rs3731239
Cytogenetic Location
9p21.3
UCSC Genome Browser
View 9p21.3 on the UCSC genome browser
4.
Identifier
rs3731211
Cytogenetic Location
9p21.3
UCSC Genome Browser
View 9p21.3 on the UCSC genome browser

Gene details

HGNC symbol
CDKN2A
Aliases
ARF; MLM; P14; P16; P19; CMM2; INK4; MTS1; TP16; CDK4I; CDKN2; INK4A; MTS-1; P14ARF; P19ARF; P16INK4; P16INK4A; P16-INK4A 
Common name
cyclin dependent kinase inhibitor 2A 
Description
This gene generates several transcript variants which differ in their first exons. At least three alternatively spliced variants encoding distinct proteins have been reported, two of which encode structurally related isoforms known to function as inhibitors of CDK4 kinase. The remaining transcript includes an alternate first exon located 20 Kb upstream of the remainder of the gene; this transcript contains an alternate open reading frame (ARF) that specifies a protein which is structurally unrelated to the products of the other variants. This ARF product functions as a stabilizer of the tumor suppressor protein p53 as it can interact with, and sequester, the E3 ubiquitin-protein ligase MDM2, a protein responsible for the degradation of p53. In spite of the structural and functional differences, the CDK inhibitor isoforms and the ARF product encoded by this gene, through the regulatory roles of CDK4 and p53 in cell cycle G1 progression, share a common functionality in cell cycle G1 control. This gene is frequently mutated or deleted in a wide variety of tumors, and is known to be an important tumor suppressor gene. [provided by RefSeq, Sep 2012]
Other longevity studies of this gene
3
OMIM
600160
Ensembl
ENSG00000147889
UniProt/Swiss-Prot
ARF_HUMAN
Entrez Gene
1029
UniGene
512599
HapMap
View on HapMap

Homologs in model organisms

No homologs found

In other databases

GenAge human genes
  • This gene is present as CDKN2A
CellAge
  • This gene is present as CDKN2A

CLOCK

1.
Identifier
rs1801260
Cytogenetic Location
4q12
UCSC Genome Browser
View 4q12 on the UCSC genome browser

Gene details

HGNC symbol
CLOCK
Aliases
KAT13D; bHLHe8 
Common name
clock circadian regulator 
Description
The protein encoded by this gene plays a central role in the regulation of circadian rhythms. The protein encodes a transcription factor of the basic helix-loop-helix (bHLH) family and contains DNA binding histone acetyltransferase activity. The encoded protein forms a heterodimer with ARNTL (BMAL1) that binds E-box enhancer elements upstream of Period (PER1, PER2, PER3) and Cryptochrome (CRY1, CRY2) genes and activates transcription of these genes. PER and CRY proteins heterodimerize and repress their own transcription by interacting in a feedback loop with CLOCK/ARNTL complexes. Polymorphisms in this gene may be associated with behavioral changes in certain populations and with obesity and metabolic syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
OMIM
601851
Ensembl
ENSG00000134852
UniProt/Swiss-Prot
CLOCK_HUMAN
Entrez Gene
9575
UniGene
436975
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
clock
Mus musculus
Clock
Rattus norvegicus
Clock

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Clock
GenAge human genes
  • This gene is present as CLOCK

CPT1A

1.
Identifier
rs11228372
Cytogenetic Location
11q13.3
UCSC Genome Browser
View 11q13.3 on the UCSC genome browser
2.
Identifier
rs4930248
Cytogenetic Location
11q13.3
UCSC Genome Browser
View 11q13.3 on the UCSC genome browser
3.
Identifier
rs17610395
Cytogenetic Location
11q13.3
UCSC Genome Browser
View 11q13.3 on the UCSC genome browser

Gene details

HGNC symbol
CPT1A
Aliases
CPT1; CPT1-L; L-CPT1 
Common name
carnitine palmitoyltransferase 1A 
Description
The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
600528
Ensembl
ENSG00000110090
UniProt/Swiss-Prot
A0A024R5F4_HUMAN
Entrez Gene
1374
UniGene
503043
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
cpt1a
Mus musculus
Cpt1a
Rattus norvegicus
Cpt1a

In other databases

GenDR gene expression
  • A homolog of this gene for Mus musculus is present as Cpt1a

CSHL1

1.
Identifier
rs2070680
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser

Gene details

HGNC symbol
CSHL1
Aliases
CSL; CS-5; GHB4; CSHP1; hCS-L 
Common name
chorionic somatomammotropin hormone like 1 
Description
The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequence identity, they are expressed selectively in different tissues. This particular family member is expressed in placental villi, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majority of the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
OMIM
603515
Ensembl
ENSG00000204414
UniProt/Swiss-Prot
A0A0B4J1R0_HUMAN
Entrez Gene
1444
UniGene
654390
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
gh1
Mus musculus
Gh1
Rattus norvegicus
Gh1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Gh

CXCL8

1.
Identifier
rs4073
Cytogenetic Location
4q13.3
UCSC Genome Browser
View 4q13.3 on the UCSC genome browser
2.
Identifier
rs2227306
Cytogenetic Location
4q13.3
UCSC Genome Browser
View 4q13.3 on the UCSC genome browser

Gene details

HGNC symbol
CXCL8
Aliases
IL8; NAF; GCP1; LECT; LUCT; NAP1; GCP-1; LYNAP; MDNCF; MONAP; NAP-1 
Common name
C-X-C motif chemokine ligand 8 
Description
The protein encoded by this gene is a member of the CXC chemokine family. This chemokine is one of the major mediators of the inflammatory response. This chemokine is secreted by several cell types. It functions as a chemoattractant, and is also a potent angiogenic factor. This gene is believed to play a role in the pathogenesis of bronchiolitis, a common respiratory tract disease caused by viral infection. This gene and other ten members of the CXC chemokine gene family form a chemokine gene cluster in a region mapped to chromosome 4q. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
146930
Ensembl
ENSG00000169429
UniProt/Swiss-Prot
A0A024RDA5_HUMAN
Entrez Gene
3576
UniGene
624
HapMap
View on HapMap

Homologs in model organisms

No homologs found

In other databases

CellAge
  • This gene is present as IL8

CYP2A7P1

1.
Identifier
rs434606
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser

Gene details

HGNC symbol
CYP2A7P1
Aliases
CYP2A7P2; CYP2A7PT; CYP2A18PC; CYP2A18PN 
Common name
cytochrome P450 family 2 subfamily A member 7 pseudogene 1 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
1550
UniGene
733030
HapMap
View on HapMap

Homologs in model organisms

No homologs found

CYP2B6

1.
Identifier
rs2054675
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
2.
Identifier
rs1987236
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
3.
Identifier
rs1042389
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
4.
Identifier
rs1552219
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser

Gene details

HGNC symbol
CYP2B6
Aliases
CPB6; EFVM; IIB1; P450; CYP2B; CYP2B7; CYP2B7P; CYPIIB6 
Common name
cytochrome P450 family 2 subfamily B member 6 
Description
This gene, CYP2B6, encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and its expression is induced by phenobarbital. The enzyme is known to metabolize some xenobiotics, such as the anti-cancer drugs cyclophosphamide and ifosphamide. Transcript variants for this gene have been described; however, it has not been resolved whether these transcripts are in fact produced by this gene or by a closely related pseudogene, CYP2B7. Both the gene and the pseudogene are located in the middle of a CYP2A pseudogene found in a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
3
OMIM
123930
Ensembl
ENSG00000197408
UniProt/Swiss-Prot
CP2B6_HUMAN
Entrez Gene
1555
UniGene
1360
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Cyp2b19
Rattus norvegicus
Cyp2b3

CYP2D6

1.
Identifier
rs769258
Cytogenetic Location
22q13.2
UCSC Genome Browser
View 22q13.2 on the UCSC genome browser
2.
Identifier
rs1065852
Cytogenetic Location
22q13.2
UCSC Genome Browser
View 22q13.2 on the UCSC genome browser
3.
Identifier
rs28371703
Cytogenetic Location
22q13.2
UCSC Genome Browser
View 22q13.2 on the UCSC genome browser
4.
Identifier
rs28371704
Cytogenetic Location
22q13.2
UCSC Genome Browser
View 22q13.2 on the UCSC genome browser
5.
Identifier
rs28371705
Cytogenetic Location
22q13.2
UCSC Genome Browser
View 22q13.2 on the UCSC genome browser

Gene details

HGNC symbol
CYP2D6
Aliases
CPD6; CYP2D; CYP2DL1; CYPIID6; P450C2D; P450DB1; CYP2D7AP; CYP2D7BP; CYP2D7P2; CYP2D8P2; P450-DB1 
Common name
cytochrome P450 family 2 subfamily D member 6 
Description
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 25% of commonly prescribed drugs. Its substrates include antidepressants, antipsychotics, analgesics and antitussives, beta adrenergic blocking agents, antiarrythmics and antiemetics. The gene is highly polymorphic in the human population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to metabolize the enzyme's substrates. Some individuals with the poor metabolizer phenotype have no functional protein since they carry 2 null alleles whereas in other individuals the gene is absent. This gene can vary in copy number and individuals with the ultrarapid metabolizer phenotype can have 3 or more active copies of the gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Other longevity studies of this gene
7
OMIM
124030
Ensembl
ENSG00000100197
UniProt/Swiss-Prot
C1ID52_HUMAN
Entrez Gene
1565
UniGene
648256
HapMap
View on HapMap

Homologs in model organisms

Drosophila melanogaster
Cyp18a1
Mus musculus
Cyp2d22
Rattus norvegicus
Cyp2d18

DRD2

1.
Identifier
rs1079597
Cytogenetic Location
11q23.2
UCSC Genome Browser
View 11q23.2 on the UCSC genome browser
2.
Identifier
rs1799732
Cytogenetic Location
11q23.2
UCSC Genome Browser
View 11q23.2 on the UCSC genome browser

Gene details

HGNC symbol
DRD2
Aliases
D2R; D2DR 
Common name
dopamine receptor D2 
Description
This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
126450
Ensembl
ENSG00000149295
UniProt/Swiss-Prot
A0A024R3C5_HUMAN
Entrez Gene
1813
UniGene
73893
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
drd2a
Drosophila melanogaster
D2R
Mus musculus
Drd2
Rattus norvegicus
Drd2

DRD4

1.
Identifier
rs936461
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
2.
Identifier
rs4987059
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
3.
Identifier
rs3758653
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser

Gene details

HGNC symbol
DRD4
Aliases
D4DR 
Common name
dopamine receptor D4 
Description
This gene encodes the D4 subtype of the dopamine receptor. The D4 subtype is a G-protein coupled receptor which inhibits adenylyl cyclase. It is a target for drugs which treat schizophrenia and Parkinson disease. Mutations in this gene have been associated with various behavioral phenotypes, including autonomic nervous system dysfunction, attention deficit/hyperactivity disorder, and the personality trait of novelty seeking. This gene contains a polymorphic number (2-10 copies) of tandem 48 nt repeats; the sequence shown contains four repeats. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
3
OMIM
126452
Ensembl
ENSG00000069696
UniProt/Swiss-Prot
A0A0G2JM26_HUMAN
Entrez Gene
1815
UniGene
99922
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
drd4b
Mus musculus
Drd4
Rattus norvegicus
Drd4

EGF

1.
Identifier
rs10470911
Cytogenetic Location
4q25
UCSC Genome Browser
View 4q25 on the UCSC genome browser
2.
Identifier
rs4444903
Cytogenetic Location
4q25
UCSC Genome Browser
View 4q25 on the UCSC genome browser
3.
Identifier
rs929446
Cytogenetic Location
4q25
UCSC Genome Browser
View 4q25 on the UCSC genome browser
4.
Identifier
rs7692976
Cytogenetic Location
4q25
UCSC Genome Browser
View 4q25 on the UCSC genome browser
5.
Identifier
rs2298999
Cytogenetic Location
4q25
UCSC Genome Browser
View 4q25 on the UCSC genome browser
6.
Identifier
rs4698803
Cytogenetic Location
4q25
UCSC Genome Browser
View 4q25 on the UCSC genome browser
7.
Identifier
rs9991904
Cytogenetic Location
4q25
UCSC Genome Browser
View 4q25 on the UCSC genome browser
8.
Identifier
rs6533485
Cytogenetic Location
4q25
UCSC Genome Browser
View 4q25 on the UCSC genome browser

Gene details

HGNC symbol
EGF
Aliases
URG; HOMG4 
Common name
epidermal growth factor 
Description
This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
Other longevity studies of this gene
7
OMIM
131530
Ensembl
ENSG00000138798
UniProt/Swiss-Prot
EGF_HUMAN
Entrez Gene
1950
UniGene
419815
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
egf
Mus musculus
Egf
Rattus norvegicus
uncharacterized_M0RA

In other databases

GenAge human genes
  • This gene is present as EGF

ERBB2

1.
Identifier
rs1058808
Cytogenetic Location
17q12
UCSC Genome Browser
View 17q12 on the UCSC genome browser
2.
Identifier
rs2952155
Cytogenetic Location
17q12
UCSC Genome Browser
View 17q12 on the UCSC genome browser
3.
Identifier
rs1801200
Cytogenetic Location
17q12
UCSC Genome Browser
View 17q12 on the UCSC genome browser

Gene details

HGNC symbol
ERBB2
Aliases
NEU; NGL; HER2; TKR1; CD340; HER-2; MLN; 19; HER-2/neu 
Common name
erb-b2 receptor tyrosine kinase 2 
Description
This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
164870
Ensembl
ENSG00000141736
UniProt/Swiss-Prot
ERBB2_HUMAN
Entrez Gene
2064
UniGene
446352
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
erbb2
Drosophila melanogaster
Egfr
Mus musculus
Erbb2
Rattus norvegicus
Erbb2

In other databases

GenAge human genes
  • This gene is present as ERBB2

ERCC1

1.
Identifier
rs3212986
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
2.
Identifier
rs3212955
In Other Studies (IDs)
3339
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
3.
Identifier
rs11615
In Other Studies (IDs)
3333
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
4.
Identifier
rs3212948
In Other Studies (IDs)
3336
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser

Gene details

HGNC symbol
ERCC1
Aliases
UV20; COFS4; RAD10 
Common name
ERCC excision repair 1, endonuclease non-catalytic subunit 
Description
The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]
Other longevity studies of this gene
9
OMIM
126380
Ensembl
ENSG00000012061
UniProt/Swiss-Prot
A0A024R0Q6_HUMAN
Entrez Gene
2067
UniGene
435981
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
ercc-1
Danio rerio
ercc1
Drosophila melanogaster
Ercc1
Mus musculus
Ercc1
Rattus norvegicus
Ercc1
Schizosaccharomyces pombe
swi10

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Ercc1
GenAge human genes
  • This gene is present as ERCC1

ERCC2

1.
Identifier
rs13181
In Other Studies (IDs)
3355
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
2.
Identifier
rs3916874
In Other Studies (IDs)
3351
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
3.
Identifier
rs238415
In Other Studies (IDs)
3378
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
4.
Identifier
rs50872
In Other Studies (IDs)
3359
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
5.
Identifier
rs50871
In Other Studies (IDs)
3361
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
6.
Identifier
rs1799793
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
7.
Identifier
rs238406
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
8.
Identifier
rs1799787
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser

Gene details

HGNC symbol
ERCC2
Aliases
EM9; TTD; XPD; TTD1; COFS2; TFIIH 
Common name
ERCC excision repair 2, TFIIH core complex helicase subunit 
Description
The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Other longevity studies of this gene
17
OMIM
126340
Ensembl
ENSG00000104884
UniProt/Swiss-Prot
ERCC2_HUMAN
Entrez Gene
2068
UniGene
487294
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_Y50D7A.2
Danio rerio
ercc2
Drosophila melanogaster
Xpd
Mus musculus
Ercc2
Rattus norvegicus
Ercc2
Saccharomyces cerevisiae
RAD3
Schizosaccharomyces pombe
rad15

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Ercc2
GenAge human genes
  • This gene is present as ERCC2

ERCC5

1.
Identifier
rs2296147
In Other Studies (IDs)
3437
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
2.
Identifier
rs1998876
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
3.
Identifier
rs4771436
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
4.
Identifier
rs1047768
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
5.
Identifier
rs17655
In Other Studies (IDs)
2385
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
6.
Identifier
rs873601
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser

Gene details

HGNC symbol
ERCC5
Aliases
XPG; UVDR; XPGC; COFS3; ERCM2; ERCC5-201 
Common name
ERCC excision repair 5, endonuclease 
Description
This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
Other longevity studies of this gene
17
OMIM
133530
Ensembl
ENSG00000134899
UniProt/Swiss-Prot
ERCC5_HUMAN
Entrez Gene
2073
UniGene
258429
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
xpg-1
Danio rerio
ercc5
Drosophila melanogaster
mus201
Mus musculus
Ercc5
Rattus norvegicus
Ercc5
Saccharomyces cerevisiae
RAD2
Schizosaccharomyces pombe
rad13

In other databases

GenAge human genes
  • This gene is present as ERCC5

FOXO1

1.
Identifier
rs2701896
Cytogenetic Location
13q14.11
UCSC Genome Browser
View 13q14.11 on the UCSC genome browser
2.
Identifier
rs2755209
In Other Studies (IDs)
473 586 1564 1670
Cytogenetic Location
13q14.11
UCSC Genome Browser
View 13q14.11 on the UCSC genome browser

Gene details

HGNC symbol
FOXO1
Aliases
FKH1; FKHR; FOXO1A 
Common name
forkhead box O1 
Description
This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
30
OMIM
136533
Ensembl
ENSG00000150907
UniProt/Swiss-Prot
FOXO1_HUMAN
Entrez Gene
2308
UniGene
370666
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
foxo1b
Mus musculus
Foxo1
Rattus norvegicus
Foxo1

In other databases

GenAge human genes
  • This gene is present as FOXO1

FOXO3

1.
Identifier
rs2253310
In Other Studies (IDs)
478 1674
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
2.
Identifier
rs2802288
In Other Studies (IDs)
466 467 919
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser
3.
Identifier
rs4946935
In Other Studies (IDs)
673
Cytogenetic Location
6q21
UCSC Genome Browser
View 6q21 on the UCSC genome browser

Gene details

HGNC symbol
FOXO3
Aliases
FOXO2; AF6q21; FKHRL1; FOXO3A; FKHRL1P2 
Common name
forkhead box O3 
Description
This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. This gene likely functions as a trigger for apoptosis through expression of genes necessary for cell death. Translocation of this gene with the MLL gene is associated with secondary acute leukemia. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
101
OMIM
602681
Ensembl
ENSG00000118689
UniProt/Swiss-Prot
FOXO3_HUMAN
Entrez Gene
2309
UniGene
220950
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
foxo3a
Mus musculus
Foxo3
Rattus norvegicus
Foxo3

In other databases

GenAge human genes
  • This gene is present as FOXO3
GenDR gene manipulations
  • A homolog of this gene for Mus musculus is present as Foxo3
CellAge
  • This gene is present as FOXO3

FOXO4

1.
Identifier
rs12013673
In Other Studies (IDs)
1628
Cytogenetic Location
Xq13.1
UCSC Genome Browser
View Xq13.1 on the UCSC genome browser
2.
Identifier
rs5980742
Cytogenetic Location
Xq13.1
UCSC Genome Browser
View Xq13.1 on the UCSC genome browser
3.
Identifier
rs5980741
Cytogenetic Location
Xq13.1
UCSC Genome Browser
View Xq13.1 on the UCSC genome browser

Gene details

HGNC symbol
FOXO4
Aliases
AFX; AFX1; MLLT7 
Common name
forkhead box O4 
Description
This gene encodes a member of the O class of winged helix/forkhead transcription factor family. Proteins encoded by this class are regulated by factors involved in growth and differentiation indicating they play a role in these processes. A translocation involving this gene on chromosome X and the homolog of the Drosophila trithorax gene, encoding a DNA binding protein, located on chromosome 11 is associated with leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Other longevity studies of this gene
5
OMIM
300033
Ensembl
ENSG00000184481
UniProt/Swiss-Prot
FOXO4_HUMAN
Entrez Gene
4303
UniGene
584654
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC563719
Drosophila melanogaster
foxo
Mus musculus
Foxo4
Rattus norvegicus
Foxo4
Saccharomyces cerevisiae
FHL1
Schizosaccharomyces pombe
sep1

In other databases

GenAge model organism genes
  • A homolog of this gene for Drosophila melanogaster is present as foxo
GenAge human genes
  • This gene is present as FOXO4
GenDR gene manipulations
  • A homolog of this gene for Drosophila melanogaster is present as foxo

GADD45A

1.
Identifier
rs532446
Cytogenetic Location
1p31.3
UCSC Genome Browser
View 1p31.3 on the UCSC genome browser

Gene details

HGNC symbol
GADD45A
Aliases
DDIT1; GADD45 
Common name
growth arrest and DNA damage inducible alpha 
Description
This gene is a member of a group of genes whose transcript levels are increased following stressful growth arrest conditions and treatment with DNA-damaging agents. The protein encoded by this gene responds to environmental stresses by mediating activation of the p38/JNK pathway via MTK1/MEKK4 kinase. The DNA damage-induced transcription of this gene is mediated by both p53-dependent and -independent mechanisms. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Dec 2010]
OMIM
126335
Ensembl
ENSG00000116717
UniProt/Swiss-Prot
A5JUZ3_HUMAN
Entrez Gene
1647
UniGene
80409
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
gadd45ab
Mus musculus
Gadd45a
Rattus norvegicus
Gadd45a

GDPD3

1.
Identifier
rs12444415
Cytogenetic Location
16p11.2
UCSC Genome Browser
View 16p11.2 on the UCSC genome browser

Gene details

HGNC symbol
GDPD3
Aliases
GDE7 
Common name
glycerophosphodiester phosphodiesterase domain containing 3 
Description
OMIM
616318
Ensembl
ENSG00000102886
UniProt/Swiss-Prot
GDPD3_HUMAN
Entrez Gene
79153
UniGene
289015
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Gdpd3
Rattus norvegicus
Gdpd3
Schizosaccharomyces pombe
SPAC4D7.02c

GH1

1.
Identifier
rs2854184
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser

Gene details

HGNC symbol
GH1
Aliases
GH; GHN; GH-N; GHB5; hGH-N; IGHD1B 
Common name
growth hormone 1 
Description
The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
139250
Ensembl
ENSG00000259384
UniProt/Swiss-Prot
B1A4G6_HUMAN
Entrez Gene
2688
UniGene
655229
HapMap
View on HapMap

Homologs in model organisms

No homologs found

In other databases

GenAge human genes
  • This gene is present as GH1

GHR

1.
Identifier
rs11949751
Cytogenetic Location
5p13.1-p12
UCSC Genome Browser
View 5p13.1-p12 on the UCSC genome browser
2.
Identifier
rs4292454
In Other Studies (IDs)
687
Cytogenetic Location
5p13.1-p12
UCSC Genome Browser
View 5p13.1-p12 on the UCSC genome browser

Gene details

HGNC symbol
GHR
Aliases
GHBP; GHIP 
Common name
growth hormone receptor 
Description
This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
Other longevity studies of this gene
8
OMIM
600946
Ensembl
ENSG00000112964
UniProt/Swiss-Prot
A0A087X0H5_HUMAN
Entrez Gene
2690
UniGene
125180
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ghra
Mus musculus
Ghr
Rattus norvegicus
Ghr

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Ghr
GenAge human genes
  • This gene is present as GHR
GenDR gene expression
  • A homolog of this gene for Mus musculus is present as Ghr
GenDR gene manipulations
  • A homolog of this gene for Mus musculus is present as Ghr

GRB2

1.
Identifier
rs2053158
Cytogenetic Location
17q25.1
UCSC Genome Browser
View 17q25.1 on the UCSC genome browser
2.
Identifier
rs959260
Cytogenetic Location
17q25.1
UCSC Genome Browser
View 17q25.1 on the UCSC genome browser
3.
Identifier
rs7219
Cytogenetic Location
17q25.1
UCSC Genome Browser
View 17q25.1 on the UCSC genome browser

Gene details

HGNC symbol
GRB2
Aliases
ASH; Grb3-3; MST084; NCKAP2; MSTP084; EGFRBP-GRB2 
Common name
growth factor receptor bound protein 2 
Description
The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
108355
Ensembl
ENSG00000177885
UniProt/Swiss-Prot
B0LPF3_HUMAN
Entrez Gene
2885
UniGene
444356
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
grb2b
Drosophila melanogaster
drk
Mus musculus
Grb2
Rattus norvegicus
Grb2

In other databases

GenAge human genes
  • This gene is present as GRB2

GSTA3

1.
Identifier
rs3818234
Cytogenetic Location
6p12.2
UCSC Genome Browser
View 6p12.2 on the UCSC genome browser

Gene details

HGNC symbol
GSTA3
Aliases
GTA3; GSTA3-3 
Common name
glutathione S-transferase alpha 3 
Description
Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class genes that are located in a cluster mapped to chromosome 6. Genes of the alpha class are highly related and encode enzymes with glutathione peroxidase activity. However, during evolution, this alpha class gene diverged accumulating mutations in the active site that resulted in differences in substrate specificity and catalytic activity. The enzyme encoded by this gene catalyzes the double bond isomerization of precursors for progesterone and testosterone during the biosynthesis of steroid hormones. An additional transcript variant has been identified, but its full length sequence has not been determined. [provided by RefSeq, Jul 2008]
OMIM
605449
Ensembl
ENSG00000174156
UniProt/Swiss-Prot
GSTA3_HUMAN
Entrez Gene
2940
UniGene
102484
HapMap
View on HapMap

Homologs in model organisms

No homologs found

GSTA4

1.
Identifier
rs405729
Cytogenetic Location
6p12.2
UCSC Genome Browser
View 6p12.2 on the UCSC genome browser
2.
Identifier
rs673197
Cytogenetic Location
6p12.2
UCSC Genome Browser
View 6p12.2 on the UCSC genome browser
3.
Identifier
rs2274760
Cytogenetic Location
6p12.2
UCSC Genome Browser
View 6p12.2 on the UCSC genome browser
4.
Identifier
rs508078
Cytogenetic Location
6p12.2
UCSC Genome Browser
View 6p12.2 on the UCSC genome browser
5.
Identifier
rs182623
Cytogenetic Location
6p12.2
UCSC Genome Browser
View 6p12.2 on the UCSC genome browser

Gene details

HGNC symbol
GSTA4
Aliases
GTA4; GSTA4-4 
Common name
glutathione S-transferase alpha 4 
Description
Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. These enzymes are involved in cellular defense against toxic, carcinogenic, and pharmacologically active electrophilic compounds. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-tranferase belonging to the alpha class. The alpha class genes, which are located in a cluster on chromosome 6, are highly related and encode enzymes with glutathione peroxidase activity that function in the detoxification of lipid peroxidation products. Reactive electrophiles produced by oxidative metabolism have been linked to a number of degenerative diseases including Parkinson's disease, Alzheimer's disease, cataract formation, and atherosclerosis. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
4
OMIM
605450
Ensembl
ENSG00000170899
UniProt/Swiss-Prot
A0A024RD58_HUMAN
Entrez Gene
2941
UniGene
485557
HapMap
View on HapMap

Homologs in model organisms

No homologs found

In other databases

GenAge human genes
  • This gene is present as GSTA4

GSTZ1

1.
Identifier
rs2270422
Cytogenetic Location
14q24.3
UCSC Genome Browser
View 14q24.3 on the UCSC genome browser
2.
Identifier
rs2270423
Cytogenetic Location
14q24.3
UCSC Genome Browser
View 14q24.3 on the UCSC genome browser
3.
Identifier
rs1017186
Cytogenetic Location
14q24.3
UCSC Genome Browser
View 14q24.3 on the UCSC genome browser

Gene details

HGNC symbol
GSTZ1
Aliases
MAI; MAAI; GSTZ1-1 
Common name
glutathione S-transferase zeta 1 
Description
This gene is a member of the glutathione S-transferase (GSTs) super-family which encodes multifunctional enzymes important in the detoxification of electrophilic molecules, including carcinogens, mutagens, and several therapeutic drugs, by conjugation with glutathione. This enzyme catalyzes the conversion of maleylacetoacetate to fumarylacetoacatate, which is one of the steps in the phenylalanine/tyrosine degradation pathway. Deficiency of a similar gene in mouse causes oxidative stress. Several transcript variants of this gene encode multiple protein isoforms. [provided by RefSeq, Jul 2015]
Other longevity studies of this gene
3
OMIM
603758
Ensembl
ENSG00000100577
UniProt/Swiss-Prot
A0A0A0MR33_HUMAN
Entrez Gene
2954
UniGene
655292
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_Y53G8B.1
Danio rerio
gstz1
Drosophila melanogaster
CG9363
Mus musculus
Gstz1
Rattus norvegicus
Gstz1

HNMT

1.
Identifier
rs3100701
Cytogenetic Location
2q22.1
UCSC Genome Browser
View 2q22.1 on the UCSC genome browser
2.
Identifier
rs1020678
Cytogenetic Location
2q22.1
UCSC Genome Browser
View 2q22.1 on the UCSC genome browser
3.
Identifier
rs1455158
Cytogenetic Location
2q22.1
UCSC Genome Browser
View 2q22.1 on the UCSC genome browser

Gene details

HGNC symbol
HNMT
Aliases
HMT; MRT51; HNMT-S1; HNMT-S2 
Common name
histamine N-methyltransferase 
Description
In mammals, histamine is metabolized by two major pathways: N(tau)-methylation via histamine N-methyltransferase and oxidative deamination via diamine oxidase. This gene encodes the first enzyme which is found in the cytosol and uses S-adenosyl-L-methionine as the methyl donor. In the mammalian brain, the neurotransmitter activity of histamine is controlled by N(tau)-methylation as diamine oxidase is not found in the central nervous system. A common genetic polymorphism affects the activity levels of this gene product in red blood cells. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
605238
Ensembl
ENSG00000150540
UniProt/Swiss-Prot
B4DWC1_HUMAN
Entrez Gene
3176
UniGene
42151
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
hnmt
Mus musculus
Hnmt
Rattus norvegicus
Hnmt

HRAS

1.
Identifier
rs12628
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser

Gene details

HGNC symbol
HRAS
Aliases
CTLO; HAMSV; HRAS1; RASH1; p21ras; C-H-RAS; H-RASIDX; C-BAS/HAS; C-HA-RAS1 
Common name
HRas proto-oncogene, GTPase 
Description
This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
3
OMIM
190020
Ensembl
ENSG00000174775
UniProt/Swiss-Prot
RASH_HUMAN
Entrez Gene
3265
UniGene
37003
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
hrasb
Mus musculus
Hras1
Rattus norvegicus
Hras1

In other databases

GenAge human genes
  • This gene is present as HRAS
CellAge
  • This gene is present as HRAS

HTR2A

1.
Identifier
rs6306
Cytogenetic Location
13q14.2
UCSC Genome Browser
View 13q14.2 on the UCSC genome browser
2.
Identifier
rs6311
Cytogenetic Location
13q14.2
UCSC Genome Browser
View 13q14.2 on the UCSC genome browser

Gene details

HGNC symbol
HTR2A
Aliases
HTR2; 5-HT2A 
Common name
5-hydroxytryptamine receptor 2A 
Description
This gene encodes one of the receptors for serotonin, a neurotransmitter with many roles. Mutations in this gene are associated with susceptibility to schizophrenia and obsessive-compulsive disorder, and are also associated with response to the antidepressant citalopram in patients with major depressive disorder (MDD). MDD patients who also have a mutation in intron 2 of this gene show a significantly reduced response to citalopram as this antidepressant downregulates expression of this gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Other longevity studies of this gene
1
OMIM
182135
Ensembl
ENSG00000102468
UniProt/Swiss-Prot
5HT2A_HUMAN
Entrez Gene
3356
UniGene
72630
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
si:dkey-276l13.4
Mus musculus
Htr2a
Rattus norvegicus
Htr2a

IFNG

1.
Identifier
rs2069727
Cytogenetic Location
12q15
UCSC Genome Browser
View 12q15 on the UCSC genome browser

Gene details

HGNC symbol
IFNG
Aliases
IFG; IFI 
Common name
interferon gamma 
Description
This gene encodes a soluble cytokine that is a member of the type II interferon class. The encoded protein is secreted by cells of both the innate and adaptive immune systems. The active protein is a homodimer that binds to the interferon gamma receptor which triggers a cellular response to viral and microbial infections. Mutations in this gene are associated with an increased susceptibility to viral, bacterial and parasitic infections and to several autoimmune diseases. [provided by RefSeq, Dec 2015]
Other longevity studies of this gene
5
OMIM
147570
Ensembl
ENSG00000111537
UniProt/Swiss-Prot
IFNG_HUMAN
Entrez Gene
3458
UniGene
856
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ifng1-2
Mus musculus
Ifng
Rattus norvegicus
Ifng

In other databases

CellAge
  • This gene is present as IFNG

IGF1

1.
Identifier
rs12821878
Cytogenetic Location
12q23.2
UCSC Genome Browser
View 12q23.2 on the UCSC genome browser
2.
Identifier
rs7136446
Cytogenetic Location
12q23.2
UCSC Genome Browser
View 12q23.2 on the UCSC genome browser
3.
Identifier
rs35767
In Other Studies (IDs)
465
Cytogenetic Location
12q23.2
UCSC Genome Browser
View 12q23.2 on the UCSC genome browser
4.
Identifier
rs6214
Cytogenetic Location
12q23.2
UCSC Genome Browser
View 12q23.2 on the UCSC genome browser

Gene details

HGNC symbol
IGF1
Aliases
MGF; IGFI; IGF-I 
Common name
insulin like growth factor 1 
Description
The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]
Other longevity studies of this gene
9
OMIM
147440
Ensembl
ENSG00000017427
UniProt/Swiss-Prot
IGF1_HUMAN
Entrez Gene
3479
UniGene
160562
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
igf1
Mus musculus
Igf1
Rattus norvegicus
Igf1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Igf1
GenAge human genes
  • This gene is present as IGF1

IGF1R

1.
Identifier
rs874305
Cytogenetic Location
15q26.3
UCSC Genome Browser
View 15q26.3 on the UCSC genome browser
2.
Identifier
rs2018860
Cytogenetic Location
15q26.3
UCSC Genome Browser
View 15q26.3 on the UCSC genome browser
3.
Identifier
rs8037002
Cytogenetic Location
15q26.3
UCSC Genome Browser
View 15q26.3 on the UCSC genome browser
4.
Identifier
rs2229765
In Other Studies (IDs)
325 1679
Cytogenetic Location
15q26.3
UCSC Genome Browser
View 15q26.3 on the UCSC genome browser

Gene details

HGNC symbol
IGF1R
Aliases
IGFR; CD221; IGFIR; JTK13 
Common name
insulin like growth factor 1 receptor 
Description
This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Other longevity studies of this gene
10
OMIM
147370
Ensembl
ENSG00000140443
UniProt/Swiss-Prot
C9J5X1_HUMAN
Entrez Gene
3480
UniGene
643120
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
igf1rb
Mus musculus
Igf1r
Rattus norvegicus
Igf1r

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Igf1r
GenAge human genes
  • This gene is present as IGF1R

IGF2

1.
Identifier
rs3213221
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
2.
Identifier
rs734351
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser
3.
Identifier
rs680
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser

Gene details

HGNC symbol
IGF2
Aliases
GRDF; IGF-II; PP9974; C11orf43 
Common name
insulin like growth factor 2 
Description
This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
Other longevity studies of this gene
6
OMIM
147470
Ensembl
ENSG00000167244
UniProt/Swiss-Prot
E3UN46_HUMAN
Entrez Gene
3481
UniGene
272259
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
igf2a
Mus musculus
Igf2
Rattus norvegicus
Igf2

In other databases

GenAge human genes
  • This gene is present as IGF2

IGFALS

1.
Identifier
rs3751893
Cytogenetic Location
16p13.3
UCSC Genome Browser
View 16p13.3 on the UCSC genome browser
2.
Identifier
rs17559
Cytogenetic Location
16p13.3
UCSC Genome Browser
View 16p13.3 on the UCSC genome browser
3.
Identifier
rs2230053
Cytogenetic Location
16p13.3
UCSC Genome Browser
View 16p13.3 on the UCSC genome browser

Gene details

HGNC symbol
IGFALS
Aliases
ALS; ACLSD 
Common name
insulin like growth factor binding protein acid labile subunit 
Description
The protein encoded by this gene is a serum protein that binds insulin-like growth factors, increasing their half-life and their vascular localization. Production of the encoded protein, which contains twenty leucine-rich repeats, is stimulated by growth hormone. Defects in this gene are a cause of acid-labile subunit deficiency, which maifests itself in a delayed and slow puberty. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Other longevity studies of this gene
2
OMIM
601489
Ensembl
ENSG00000099769
UniProt/Swiss-Prot
ALS_HUMAN
Entrez Gene
3483
UniGene
839
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
si:ch211-66h3.1
Drosophila melanogaster
CG32055
Mus musculus
Igfals
Rattus norvegicus
Igfals

IGFBP1

1.
Identifier
rs4619
Cytogenetic Location
7p12.3
UCSC Genome Browser
View 7p12.3 on the UCSC genome browser

Gene details

HGNC symbol
IGFBP1
Aliases
AFBP; IBP1; PP12; IGF-BP25; hIGFBP-1 
Common name
insulin like growth factor binding protein 1 
Description
This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein binds both insulin-like growth factors (IGFs) I and II and circulates in the plasma. Binding of this protein prolongs the half-life of the IGFs and alters their interaction with cell surface receptors. [provided by RefSeq, Jul 2008]
OMIM
146730
Ensembl
ENSG00000146678
UniProt/Swiss-Prot
IBP1_HUMAN
Entrez Gene
3484
UniGene
642938
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
igfbp1b
Mus musculus
Igfbp1
Rattus norvegicus
Igfbp1

In other databases

CellAge
  • This gene is present as IGFBP1

IGFBP3

1.
Identifier
rs2132571
Cytogenetic Location
7p12.3
UCSC Genome Browser
View 7p12.3 on the UCSC genome browser
2.
Identifier
rs2453839
Cytogenetic Location
7p12.3
UCSC Genome Browser
View 7p12.3 on the UCSC genome browser

Gene details

HGNC symbol
IGFBP3
Aliases
IBP3; BP-53 
Common name
insulin like growth factor binding protein 3 
Description
This gene is a member of the insulin-like growth factor binding protein (IGFBP) family and encodes a protein with an IGFBP domain and a thyroglobulin type-I domain. The protein forms a ternary complex with insulin-like growth factor acid-labile subunit (IGFALS) and either insulin-like growth factor (IGF) I or II. In this form, it circulates in the plasma, prolonging the half-life of IGFs and altering their interaction with cell surface receptors. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
146732
Ensembl
ENSG00000146674
UniProt/Swiss-Prot
B3KPF0_HUMAN
Entrez Gene
3486
UniGene
450230
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
igfbp3
Mus musculus
Igfbp3
Rattus norvegicus
Igfbp3

In other databases

GenAge human genes
  • This gene is present as IGFBP3
CellAge
  • This gene is present as IGFBP3

IL10

1.
Identifier
rs1800896
Cytogenetic Location
1q32.1
UCSC Genome Browser
View 1q32.1 on the UCSC genome browser
2.
Identifier
rs3024498
Cytogenetic Location
1q32.1
UCSC Genome Browser
View 1q32.1 on the UCSC genome browser
3.
Identifier
rs3024496
Cytogenetic Location
1q32.1
UCSC Genome Browser
View 1q32.1 on the UCSC genome browser
4.
Identifier
rs1518111
Cytogenetic Location
1q32.1
UCSC Genome Browser
View 1q32.1 on the UCSC genome browser
5.
Identifier
rs1800872
Cytogenetic Location
1q32.1
UCSC Genome Browser
View 1q32.1 on the UCSC genome browser
6.
Identifier
rs1800871
Cytogenetic Location
1q32.1
UCSC Genome Browser
View 1q32.1 on the UCSC genome browser

Gene details

HGNC symbol
IL10
Aliases
CSIF; TGIF; GVHDS; IL-10; IL10A 
Common name
interleukin 10 
Description
The protein encoded by this gene is a cytokine produced primarily by monocytes and to a lesser extent by lymphocytes. This cytokine has pleiotropic effects in immunoregulation and inflammation. It down-regulates the expression of Th1 cytokines, MHC class II Ags, and costimulatory molecules on macrophages. It also enhances B cell survival, proliferation, and antibody production. This cytokine can block NF-kappa B activity, and is involved in the regulation of the JAK-STAT signaling pathway. Knockout studies in mice suggested the function of this cytokine as an essential immunoregulator in the intestinal tract. Mutations in this gene are associated with an increased susceptibility to HIV-1 infection and rheumatoid arthritis.[provided by RefSeq, May 2011]
Other longevity studies of this gene
15
OMIM
124092
Ensembl
ENSG00000136634
UniProt/Swiss-Prot
IL10_HUMAN
Entrez Gene
3586
UniGene
193717
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
il10
Mus musculus
Il10
Rattus norvegicus
Il10

IL12B

1.
Identifier
rs17875322
Cytogenetic Location
5q33.3
UCSC Genome Browser
View 5q33.3 on the UCSC genome browser

Gene details

HGNC symbol
IL12B
Aliases
CLMF; NKSF; CLMF2; IMD28; IMD29; NKSF2; IL-12B 
Common name
interleukin 12B 
Description
This gene encodes a subunit of interleukin 12, a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. Interleukin 12 is a disulfide-linked heterodimer composed of the 40 kD cytokine receptor like subunit encoded by this gene, and a 35 kD subunit encoded by IL12A. This cytokine is expressed by activated macrophages that serve as an essential inducer of Th1 cells development. This cytokine has been found to be important for sustaining a sufficient number of memory/effector Th1 cells to mediate long-term protection to an intracellular pathogen. Overexpression of this gene was observed in the central nervous system of patients with multiple sclerosis (MS), suggesting a role of this cytokine in the pathogenesis of the disease. The promoter polymorphism of this gene has been reported to be associated with the severity of atopic and non-atopic asthma in children. [provided by RefSeq, Jul 2008]
OMIM
161561
Ensembl
ENSG00000113302
UniProt/Swiss-Prot
IL12B_HUMAN
Entrez Gene
3593
UniGene
674
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
si:ch211-213n8.3
Mus musculus
Il12b
Rattus norvegicus
Il12b

IL1A

1.
Identifier
rs1800587
Cytogenetic Location
2q14.1
UCSC Genome Browser
View 2q14.1 on the UCSC genome browser
2.
Identifier
rs2856838
Cytogenetic Location
2q14.1
UCSC Genome Browser
View 2q14.1 on the UCSC genome browser
3.
Identifier
rs2071373
Cytogenetic Location
2q14.1
UCSC Genome Browser
View 2q14.1 on the UCSC genome browser

Gene details

HGNC symbol
IL1A
Aliases
IL1; IL-1A; IL1F1; IL1-ALPHA 
Common name
interleukin 1 alpha 
Description
The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is a pleiotropic cytokine involved in various immune responses, inflammatory processes, and hematopoiesis. This cytokine is produced by monocytes and macrophages as a proprotein, which is proteolytically processed and released in response to cell injury, and thus induces apoptosis. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. It has been suggested that the polymorphism of these genes is associated with rheumatoid arthritis and Alzheimer's disease. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
4
OMIM
147760
Ensembl
ENSG00000115008
UniProt/Swiss-Prot
IL1A_HUMAN
Entrez Gene
3552
UniGene
1722
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Il1a
Rattus norvegicus
Il1a

In other databases

CellAge
  • This gene is present as IL1A

IL1B

1.
Identifier
rs1143643
Cytogenetic Location
2q14.1
UCSC Genome Browser
View 2q14.1 on the UCSC genome browser
2.
Identifier
rs1143634
Cytogenetic Location
2q14.1
UCSC Genome Browser
View 2q14.1 on the UCSC genome browser
3.
Identifier
rs1143627
Cytogenetic Location
2q14.1
UCSC Genome Browser
View 2q14.1 on the UCSC genome browser
4.
Identifier
rs16944
Cytogenetic Location
2q14.1
UCSC Genome Browser
View 2q14.1 on the UCSC genome browser

Gene details

HGNC symbol
IL1B
Aliases
IL-1; IL1F2; IL1-BETA 
Common name
interleukin 1 beta 
Description
The protein encoded by this gene is a member of the interleukin 1 cytokine family. This cytokine is produced by activated macrophages as a proprotein, which is proteolytically processed to its active form by caspase 1 (CASP1/ICE). This cytokine is an important mediator of the inflammatory response, and is involved in a variety of cellular activities, including cell proliferation, differentiation, and apoptosis. The induction of cyclooxygenase-2 (PTGS2/COX2) by this cytokine in the central nervous system (CNS) is found to contribute to inflammatory pain hypersensitivity. This gene and eight other interleukin 1 family genes form a cytokine gene cluster on chromosome 2. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
6
OMIM
147720
Ensembl
ENSG00000125538
UniProt/Swiss-Prot
IL1B_HUMAN
Entrez Gene
3553
UniGene
126256
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
il1b
Mus musculus
Il1b
Rattus norvegicus
Il1b

IL2

1.
Identifier
rs2069762
Cytogenetic Location
4q27
UCSC Genome Browser
View 4q27 on the UCSC genome browser

Gene details

HGNC symbol
IL2
Aliases
IL-2; TCGF; lymphokine 
Common name
interleukin 2 
Description
The protein encoded by this gene is a secreted cytokine that is important for the proliferation of T and B lymphocytes. The receptor of this cytokine is a heterotrimeric protein complex whose gamma chain is also shared by interleukin 4 (IL4) and interleukin 7 (IL7). The expression of this gene in mature thymocytes is monoallelic, which represents an unusual regulatory mode for controlling the precise expression of a single gene. The targeted disruption of a similar gene in mice leads to ulcerative colitis-like disease, which suggests an essential role of this gene in the immune response to antigenic stimuli. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
147680
Ensembl
ENSG00000109471
UniProt/Swiss-Prot
IL2_HUMAN
Entrez Gene
3558
UniGene
89679
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Il2
Rattus norvegicus
Il2

In other databases

GenAge human genes
  • This gene is present as IL2

IL6

1.
Identifier
rs1800795
In Other Studies (IDs)
327 351 2108
Cytogenetic Location
7p15.3
UCSC Genome Browser
View 7p15.3 on the UCSC genome browser
2.
Identifier
rs1474347
Cytogenetic Location
7p15.3
UCSC Genome Browser
View 7p15.3 on the UCSC genome browser

Gene details

HGNC symbol
IL6
Aliases
CDF; HGF; HSF; BSF2; IL-6; BSF-2; IFNB2; IFN-beta-2 
Common name
interleukin 6 
Description
This gene encodes a cytokine that functions in inflammation and the maturation of B cells. In addition, the encoded protein has been shown to be an endogenous pyrogen capable of inducing fever in people with autoimmune diseases or infections. The protein is primarily produced at sites of acute and chronic inflammation, where it is secreted into the serum and induces a transcriptional inflammatory response through interleukin 6 receptor, alpha. The functioning of this gene is implicated in a wide variety of inflammation-associated disease states, including suspectibility to diabetes mellitus and systemic juvenile rheumatoid arthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Other longevity studies of this gene
19
OMIM
147620
Ensembl
ENSG00000136244
UniProt/Swiss-Prot
B4DNQ5_HUMAN
Entrez Gene
3569
UniGene
654458
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Il6
Rattus norvegicus
Il6

In other databases

GenAge human genes
  • This gene is present as IL6

INS

1.
Identifier
rs3842748
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser

Gene details

HGNC symbol
INS
Aliases
IDDM; ILPR; IRDN; IDDM1; IDDM2; MODY10 
Common name
insulin 
Description
After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
Other longevity studies of this gene
5
OMIM
176730
Ensembl
ENSG00000254647
UniProt/Swiss-Prot
I3WAC9_HUMAN
Entrez Gene
3630
UniGene
272259
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ins
Mus musculus
Ins1
Rattus norvegicus
Ins1

In other databases

GenAge human genes
  • This gene is present as INS

INS-IGF2

1.
Identifier
rs7924316
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser

Gene details

HGNC symbol
INS-IGF2
Aliases
INSIGF 
Common name
INS-IGF2 readthrough 
Description
This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. [provided by RefSeq, Jul 2008]
OMIM
Ensembl
ENSG00000129965
UniProt/Swiss-Prot
INSR2_HUMAN
Entrez Gene
723961
UniGene
272259
HapMap
View on HapMap

Homologs in model organisms

No homologs found

INSR

1.
Identifier
rs11667110
Cytogenetic Location
19p13.2
UCSC Genome Browser
View 19p13.2 on the UCSC genome browser
2.
Identifier
rs8103483
Cytogenetic Location
19p13.2
UCSC Genome Browser
View 19p13.2 on the UCSC genome browser
3.
Identifier
rs12971499
Cytogenetic Location
19p13.2
UCSC Genome Browser
View 19p13.2 on the UCSC genome browser
4.
Identifier
rs1896639
Cytogenetic Location
19p13.2
UCSC Genome Browser
View 19p13.2 on the UCSC genome browser

Gene details

HGNC symbol
INSR
Aliases
HHF5; CD220 
Common name
insulin receptor 
Description
This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Other longevity studies of this gene
4
OMIM
147670
Ensembl
ENSG00000171105
UniProt/Swiss-Prot
INSR_HUMAN
Entrez Gene
3643
UniGene
465744
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
insrb
Mus musculus
Insr
Rattus norvegicus
Insr

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Insr
GenAge human genes
  • This gene is present as INSR

IRS1

1.
Identifier
rs17208239
Cytogenetic Location
2q36.3
UCSC Genome Browser
View 2q36.3 on the UCSC genome browser
2.
Identifier
rs1801276
Cytogenetic Location
2q36.3
UCSC Genome Browser
View 2q36.3 on the UCSC genome browser
3.
Identifier
rs1820841
Cytogenetic Location
2q36.3
UCSC Genome Browser
View 2q36.3 on the UCSC genome browser

Gene details

HGNC symbol
IRS1
Aliases
HIRS-1 
Common name
insulin receptor substrate 1 
Description
This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]
Other longevity studies of this gene
5
OMIM
147545
Ensembl
ENSG00000169047
UniProt/Swiss-Prot
A0A024R499_HUMAN
Entrez Gene
3667
UniGene
471508
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
irs1
Mus musculus
Irs1
Rattus norvegicus
Irs1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Irs1
GenAge human genes
  • This gene is present as IRS1

JAK2

1.
Identifier
rs7849191
Cytogenetic Location
9p24.1
UCSC Genome Browser
View 9p24.1 on the UCSC genome browser
2.
Identifier
rs7037207
Cytogenetic Location
9p24.1
UCSC Genome Browser
View 9p24.1 on the UCSC genome browser
3.
Identifier
rs3780378
Cytogenetic Location
9p24.1
UCSC Genome Browser
View 9p24.1 on the UCSC genome browser

Gene details

HGNC symbol
JAK2
Aliases
JTK10; THCYT3 
Common name
Janus kinase 2 
Description
This gene product is a protein tyrosine kinase involved in a specific subset of cytokine receptor signaling pathways. It has been found to be constituitively associated with the prolactin receptor and is required for responses to gamma interferon. Mice that do not express an active protein for this gene exhibit embryonic lethality associated with the absence of definitive erythropoiesis. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
3
OMIM
147796
Ensembl
ENSG00000096968
UniProt/Swiss-Prot
A8K910_HUMAN
Entrez Gene
3717
UniGene
656213
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
jak2b
Mus musculus
Jak2
Rattus norvegicus
Jak2

In other databases

GenAge human genes
  • This gene is present as JAK2

LEP

1.
Identifier
rs13228377
Cytogenetic Location
7q32.1
UCSC Genome Browser
View 7q32.1 on the UCSC genome browser
2.
Identifier
rs12706832
Cytogenetic Location
7q32.1
UCSC Genome Browser
View 7q32.1 on the UCSC genome browser
3.
Identifier
rs3828942
Cytogenetic Location
7q32.1
UCSC Genome Browser
View 7q32.1 on the UCSC genome browser
4.
Identifier
rs11761556
Cytogenetic Location
7q32.1
UCSC Genome Browser
View 7q32.1 on the UCSC genome browser

Gene details

HGNC symbol
LEP
Aliases
OB; OBS; LEPD 
Common name
leptin 
Description
This gene encodes a protein that is secreted by white adipocytes, and which plays a major role in the regulation of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass. This protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory responses, hematopoiesis, angiogenesis and wound healing. Mutations in this gene and/or its regulatory regions cause severe obesity, and morbid obesity with hypogonadism. This gene has also been linked to type 2 diabetes mellitus development. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
3
OMIM
164160
Ensembl
ENSG00000174697
UniProt/Swiss-Prot
A4D0Y8_HUMAN
Entrez Gene
3952
UniGene
194236
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Lep
Rattus norvegicus
Lep

In other databases

GenAge human genes
  • This gene is present as LEP

LEPR

1.
Identifier
rs12145690
Cytogenetic Location
1p31.3
UCSC Genome Browser
View 1p31.3 on the UCSC genome browser
2.
Identifier
rs1137100
Cytogenetic Location
1p31.3
UCSC Genome Browser
View 1p31.3 on the UCSC genome browser
3.
Identifier
rs1137101
Cytogenetic Location
1p31.3
UCSC Genome Browser
View 1p31.3 on the UCSC genome browser
4.
Identifier
rs6688776
Cytogenetic Location
1p31.3
UCSC Genome Browser
View 1p31.3 on the UCSC genome browser

Gene details

HGNC symbol
LEPR
Aliases
OBR; OB-R; CD295; LEP-R; LEPRD 
Common name
leptin receptor 
Description
The protein encoded by this gene belongs to the gp130 family of cytokine receptors that are known to stimulate gene transcription via activation of cytosolic STAT proteins. This protein is a receptor for leptin (an adipocyte-specific hormone that regulates body weight), and is involved in the regulation of fat metabolism, as well as in a novel hematopoietic pathway that is required for normal lymphopoiesis. Mutations in this gene have been associated with obesity and pituitary dysfunction. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. It is noteworthy that this gene and LEPROT gene (GeneID:54741) share the same promoter and the first 2 exons, however, encode distinct proteins (PMID:9207021).[provided by RefSeq, Nov 2010]
Other longevity studies of this gene
10
OMIM
601007
Ensembl
ENSG00000116678
UniProt/Swiss-Prot
LEPR_HUMAN
Entrez Gene
3953
UniGene
23581
HapMap
View on HapMap

Homologs in model organisms

No homologs found

In other databases

GenAge human genes
  • This gene is present as LEPR

LOC101059906

1.
Identifier
rs12577324
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser

Gene details

HGNC symbol
LOC101059906
Aliases
 
Common name
collagen alpha-2(IV) chain-like 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
101059906
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC105375091

1.
Identifier
rs494334
Cytogenetic Location
6p12.2
UCSC Genome Browser
View 6p12.2 on the UCSC genome browser

Gene details

HGNC symbol
LOC105375091
Aliases
 
Common name
uncharacterized LOC105375091 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105375091
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC107987209

1.
Identifier
rs2498802
Cytogenetic Location
14q32.33
UCSC Genome Browser
View 14q32.33 on the UCSC genome browser

Gene details

HGNC symbol
LOC107987209
Aliases
 
Common name
uncharacterized LOC107987209 
Description
Other longevity studies of this gene
1
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
107987209
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LRRC56

1.
Identifier
rs4963176
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser

Gene details

HGNC symbol
LRRC56
Aliases
 
Common name
leucine rich repeat containing 56 
Description
OMIM
Ensembl
ENSG00000161328
UniProt/Swiss-Prot
LRC56_HUMAN
Entrez Gene
115399
UniGene
567655
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
uncharacterized_F1QS
Mus musculus
Lrrc56
Rattus norvegicus
Lrrc56

MAP2K1

1.
Identifier
rs1549854
Cytogenetic Location
15q22.31
UCSC Genome Browser
View 15q22.31 on the UCSC genome browser
2.
Identifier
rs1432442
Cytogenetic Location
15q22.31
UCSC Genome Browser
View 15q22.31 on the UCSC genome browser
3.
Identifier
rs7181936
Cytogenetic Location
15q22.31
UCSC Genome Browser
View 15q22.31 on the UCSC genome browser

Gene details

HGNC symbol
MAP2K1
Aliases
CFC3; MEK1; MKK1; MAPKK1; PRKMK1 
Common name
mitogen-activated protein kinase kinase 1 
Description
The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
176872
Ensembl
ENSG00000169032
UniProt/Swiss-Prot
A4QPA9_HUMAN
Entrez Gene
5604
UniGene
145442
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
mek-2
Danio rerio
map2k1
Mus musculus
Map2k1
Rattus norvegicus
Map2k1
Schizosaccharomyces pombe
byr1

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as mek-2
CellAge
  • This gene is present as MAP2K1

MAP3K7

1.
Identifier
rs157703
Cytogenetic Location
6q15
UCSC Genome Browser
View 6q15 on the UCSC genome browser
2.
Identifier
rs791063
Cytogenetic Location
6q15
UCSC Genome Browser
View 6q15 on the UCSC genome browser
3.
Identifier
rs13208824
Cytogenetic Location
6q15
UCSC Genome Browser
View 6q15 on the UCSC genome browser
4.
Identifier
rs1144159
Cytogenetic Location
6q15
UCSC Genome Browser
View 6q15 on the UCSC genome browser
5.
Identifier
rs2273567
Cytogenetic Location
6q15
UCSC Genome Browser
View 6q15 on the UCSC genome browser

Gene details

HGNC symbol
MAP3K7
Aliases
CSCF; FMD2; TAK1; MEKK7; TGF1a 
Common name
mitogen-activated protein kinase kinase kinase 7 
Description
The protein encoded by this gene is a member of the serine/threonine protein kinase family. This kinase mediates the signaling transduction induced by TGF beta and morphogenetic protein (BMP), and controls a variety of cell functions including transcription regulation and apoptosis. In response to IL-1, this protein forms a kinase complex including TRAF6, MAP3K7P1/TAB1 and MAP3K7P2/TAB2; this complex is required for the activation of nuclear factor kappa B. This kinase can also activate MAPK8/JNK, MAP2K4/MKK4, and thus plays a role in the cell response to environmental stresses. Four alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
5
OMIM
602614
Ensembl
ENSG00000135341
UniProt/Swiss-Prot
M3K7_HUMAN
Entrez Gene
6885
UniGene
594838
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_Y105C5A.24
Danio rerio
map3k7
Drosophila melanogaster
Tak1
Mus musculus
Map3k7
Rattus norvegicus
Map3k7

In other databases

CellAge
  • This gene is present as MAP3K7

MAPK3

1.
Identifier
rs7542
Cytogenetic Location
16p11.2
UCSC Genome Browser
View 16p11.2 on the UCSC genome browser
2.
Identifier
rs11865086
Cytogenetic Location
16p11.2
UCSC Genome Browser
View 16p11.2 on the UCSC genome browser

Gene details

HGNC symbol
MAPK3
Aliases
ERK1; ERT2; ERK-1; PRKM3; P44ERK1; P44MAPK; HS44KDAP; HUMKER1A; p44-ERK1; p44-MAPK 
Common name
mitogen-activated protein kinase 3 
Description
The protein encoded by this gene is a member of the MAP kinase family. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act in a signaling cascade that regulates various cellular processes such as proliferation, differentiation, and cell cycle progression in response to a variety of extracellular signals. This kinase is activated by upstream kinases, resulting in its translocation to the nucleus where it phosphorylates nuclear targets. Alternatively spliced transcript variants encoding different protein isoforms have been described. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
601795
Ensembl
ENSG00000102882
UniProt/Swiss-Prot
L7RXH5_HUMAN
Entrez Gene
5595
UniGene
861
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
mpk-1
Drosophila melanogaster
rl
Mus musculus
Mapk3
Rattus norvegicus
Mapk3
Saccharomyces cerevisiae
KSS1
Schizosaccharomyces pombe
spk1

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as KSS1
  • A homolog of this gene for Caenorhabditis elegans is present as mpk-1
GenAge human genes
  • This gene is present as MAPK3

MBD1

1.
Identifier
rs125555
Cytogenetic Location
18q21.1
UCSC Genome Browser
View 18q21.1 on the UCSC genome browser

Gene details

HGNC symbol
MBD1
Aliases
RFT; PCM1; CXXC3 
Common name
methyl-CpG binding domain protein 1 
Description
The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]
OMIM
156535
Ensembl
ENSG00000141644
UniProt/Swiss-Prot
A8K654_HUMAN
Entrez Gene
4152
UniGene
405610
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Mbd1
Rattus norvegicus
Mbd1

MBD2

1.
Identifier
rs7614
Cytogenetic Location
18q21.2
UCSC Genome Browser
View 18q21.2 on the UCSC genome browser
2.
Identifier
rs603097
Cytogenetic Location
18q21.2
UCSC Genome Browser
View 18q21.2 on the UCSC genome browser

Gene details

HGNC symbol
MBD2
Aliases
DMTase; NY-CO-41 
Common name
methyl-CpG binding domain protein 2 
Description
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription, as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Other longevity studies of this gene
1
OMIM
603547
Ensembl
ENSG00000134046
UniProt/Swiss-Prot
A0A024R2B8_HUMAN
Entrez Gene
8932
UniGene
25674
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Mbd2
Rattus norvegicus
Mbd2

MDM2

1.
Identifier
rs1625525
Cytogenetic Location
12q15
UCSC Genome Browser
View 12q15 on the UCSC genome browser

Gene details

HGNC symbol
MDM2
Aliases
HDMX; hdm2; ACTFS 
Common name
MDM2 proto-oncogene 
Description
This gene encodes a nuclear-localized E3 ubiquitin ligase. The encoded protein can promote tumor formation by targeting tumor suppressor proteins, such as p53, for proteasomal degradation. This gene is itself transcriptionally-regulated by p53. Overexpression or amplification of this locus is detected in a variety of different cancers. There is a pseudogene for this gene on chromosome 2. Alternative splicing results in a multitude of transcript variants, many of which may be expressed only in tumor cells. [provided by RefSeq, Jun 2013]
OMIM
164785
Ensembl
ENSG00000135679
UniProt/Swiss-Prot
A0A0A8KB75_HUMAN
Entrez Gene
4193
UniGene
484551
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
mdm2
Mus musculus
Mdm2
Rattus norvegicus
Mdm2

In other databases

GenAge human genes
  • This gene is present as MDM2

MKRN2

1.
Identifier
rs15997
Cytogenetic Location
3p25.2
UCSC Genome Browser
View 3p25.2 on the UCSC genome browser

Gene details

HGNC symbol
MKRN2
Aliases
RNF62; HSPC070 
Common name
makorin ring finger protein 2 
Description
This gene encodes a probable E3 ubiquitin ligase containing several zinc finger domains, that is a member of the makorin RING zinc-finger protein family. This gene overlaps the v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1) gene in an antisense orientation and may have a co-regulatory function with RAF1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
OMIM
608426
Ensembl
ENSG00000075975
UniProt/Swiss-Prot
MKRN2_HUMAN
Entrez Gene
23609
UniGene
591666
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
mkrn2
Drosophila melanogaster
CG5347
Mus musculus
Mkrn2
Rattus norvegicus
Mkrn2

MTOR

1.
Identifier
rs2275527
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
2.
Identifier
rs2261434
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser
3.
Identifier
rs1770345
Cytogenetic Location
1p36.22
UCSC Genome Browser
View 1p36.22 on the UCSC genome browser

Gene details

HGNC symbol
MTOR
Aliases
SKS; FRAP; FRAP1; FRAP2; RAFT1; RAPT1 
Common name
mechanistic target of rapamycin 
Description
The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008]
Other longevity studies of this gene
9
OMIM
601231
Ensembl
ENSG00000198793
UniProt/Swiss-Prot
MTOR_HUMAN
Entrez Gene
2475
UniGene
338207
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
let-363
Danio rerio
mtor
Drosophila melanogaster
Tor
Mus musculus
Mtor
Rattus norvegicus
Mtor
Saccharomyces cerevisiae
TOR2
Schizosaccharomyces pombe
tor2

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as let-363
  • A homolog of this gene for Drosophila melanogaster is present as Tor
  • A homolog of this gene for Mus musculus is present as Mtor
GenAge human genes
  • This gene is present as MTOR
GenDR gene manipulations
  • A homolog of this gene for Caenorhabditis elegans is present as let-363

NAT1

1.
Identifier
rs1057126
Cytogenetic Location
8p22
UCSC Genome Browser
View 8p22 on the UCSC genome browser
2.
Identifier
rs15561
Cytogenetic Location
8p22
UCSC Genome Browser
View 8p22 on the UCSC genome browser

Gene details

HGNC symbol
NAT1
Aliases
AAC1; MNAT; NATI; NAT-1 
Common name
N-acetyltransferase 1 
Description
This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
Other longevity studies of this gene
1
OMIM
108345
Ensembl
ENSG00000171428
UniProt/Swiss-Prot
ARY1_HUMAN
Entrez Gene
9
UniGene
591847
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Nat2
Rattus norvegicus
Nat2

NAT2

1.
Identifier
rs1799929
Cytogenetic Location
8p22
UCSC Genome Browser
View 8p22 on the UCSC genome browser
2.
Identifier
rs1799930
Cytogenetic Location
8p22
UCSC Genome Browser
View 8p22 on the UCSC genome browser

Gene details

HGNC symbol
NAT2
Aliases
AAC2; PNAT; NAT-2 
Common name
N-acetyltransferase 2 
Description
This gene encodes an enzyme that functions to both activate and deactivate arylamine and hydrazine drugs and carcinogens. Polymorphisms in this gene are responsible for the N-acetylation polymorphism in which human populations segregate into rapid, intermediate, and slow acetylator phenotypes. Polymorphisms in this gene are also associated with higher incidences of cancer and drug toxicity. A second arylamine N-acetyltransferase gene (NAT1) is located near this gene (NAT2). [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
6
OMIM
612182
Ensembl
ENSG00000156006
UniProt/Swiss-Prot
A4Z6T7_HUMAN
Entrez Gene
10
UniGene
2
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
zgc:101040

NBN

1.
Identifier
rs12680687
In Other Studies (IDs)
2902
Cytogenetic Location
8q21.3
UCSC Genome Browser
View 8q21.3 on the UCSC genome browser
2.
Identifier
rs709816
Cytogenetic Location
8q21.3
UCSC Genome Browser
View 8q21.3 on the UCSC genome browser
3.
Identifier
rs1805794
In Other Studies (IDs)
2812
Cytogenetic Location
8q21.3
UCSC Genome Browser
View 8q21.3 on the UCSC genome browser

Gene details

HGNC symbol
NBN
Aliases
ATV; NBS; P95; NBS1; AT-V1; AT-V2 
Common name
nibrin 
Description
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
13
OMIM
602667
Ensembl
ENSG00000104320
UniProt/Swiss-Prot
A0A0C4DG07_HUMAN
Entrez Gene
4683
UniGene
492208
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
nbn
Mus musculus
Nbn
Rattus norvegicus
Nbn

In other databases

GenAge human genes
  • This gene is present as NBN

NFAT5

1.
Identifier
rs2965757
Cytogenetic Location
16q22.1
UCSC Genome Browser
View 16q22.1 on the UCSC genome browser

Gene details

HGNC symbol
NFAT5
Aliases
NFATZ; OREBP; NF-AT5; NFATL1; TONEBP 
Common name
nuclear factor of activated T-cells 5 
Description
The product of this gene is a member of the nuclear factors of activated T cells family of transcription factors. Proteins belonging to this family play a central role in inducible gene transcription during the immune response. This protein regulates gene expression induced by osmotic stress in mammalian cells. Unlike monomeric members of this protein family, this protein exists as a homodimer and forms stable dimers with DNA elements. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
OMIM
604708
Ensembl
ENSG00000102908
UniProt/Swiss-Prot
A0A024R734_HUMAN
Entrez Gene
10725
UniGene
371987
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
nfat5
Mus musculus
Nfat5
Rattus norvegicus
Nfat5

NNMT

1.
Identifier
rs1941404
Cytogenetic Location
11q23.2
UCSC Genome Browser
View 11q23.2 on the UCSC genome browser
2.
Identifier
rs11214938
Cytogenetic Location
11q23.2
UCSC Genome Browser
View 11q23.2 on the UCSC genome browser
3.
Identifier
rs2852425
Cytogenetic Location
11q23.2
UCSC Genome Browser
View 11q23.2 on the UCSC genome browser

Gene details

HGNC symbol
NNMT
Aliases
 
Common name
nicotinamide N-methyltransferase 
Description
N-methylation is one method by which drug and other xenobiotic compounds are metabolized by the liver. This gene encodes the protein responsible for this enzymatic activity which uses S-adenosyl methionine as the methyl donor. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
600008
Ensembl
ENSG00000166741
UniProt/Swiss-Prot
NNMT_HUMAN
Entrez Gene
4837
UniGene
503911
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
anmt-3
Mus musculus
Nnmt
Rattus norvegicus
Nnmt

NQO1

1.
Identifier
rs10517
Cytogenetic Location
16q22.1
UCSC Genome Browser
View 16q22.1 on the UCSC genome browser
2.
Identifier
rs2917670
Cytogenetic Location
16q22.1
UCSC Genome Browser
View 16q22.1 on the UCSC genome browser
3.
Identifier
rs1800566
Cytogenetic Location
16q22.1
UCSC Genome Browser
View 16q22.1 on the UCSC genome browser

Gene details

HGNC symbol
NQO1
Aliases
DTD; QR1; DHQU; DIA4; NMOR1; NMORI 
Common name
NAD(P)H quinone dehydrogenase 1 
Description
This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
125860
Ensembl
ENSG00000181019
UniProt/Swiss-Prot
B4DLR8_HUMAN
Entrez Gene
1728
UniGene
406515
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
nqo1
Mus musculus
Nqo1
Rattus norvegicus
Nqo1

NTRK1

1.
Identifier
rs6339
Cytogenetic Location
1q23.1
UCSC Genome Browser
View 1q23.1 on the UCSC genome browser
2.
Identifier
rs6337
Cytogenetic Location
1q23.1
UCSC Genome Browser
View 1q23.1 on the UCSC genome browser

Gene details

HGNC symbol
NTRK1
Aliases
MTC; TRK; TRK1; TRKA; Trk-A; p140-TrkA 
Common name
neurotrophic receptor tyrosine kinase 1 
Description
This gene encodes a member of the neurotrophic tyrosine kinase receptor (NTKR) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. The presence of this kinase leads to cell differentiation and may play a role in specifying sensory neuron subtypes. Mutations in this gene have been associated with congenital insensitivity to pain, anhidrosis, self-mutilating behavior, mental retardation and cancer. Alternate transcriptional splice variants of this gene have been found, but only three have been characterized to date. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
191315
Ensembl
ENSG00000198400
UniProt/Swiss-Prot
NTRK1_HUMAN
Entrez Gene
4914
UniGene
406293
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ntrk1
Mus musculus
Ntrk1
Rattus norvegicus
Ntrk1

OGG1

1.
Identifier
rs2072668
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser
2.
Identifier
rs1052133
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser

Gene details

HGNC symbol
OGG1
Aliases
HMMH; MUTM; OGH1; HOGG1 
Common name
8-oxoguanine DNA glycosylase 
Description
This gene encodes the enzyme responsible for the excision of 8-oxoguanine, a mutagenic base byproduct which occurs as a result of exposure to reactive oxygen. The action of this enzyme includes lyase activity for chain cleavage. Alternative splicing of the C-terminal region of this gene classifies splice variants into two major groups, type 1 and type 2, depending on the last exon of the sequence. Type 1 alternative splice variants end with exon 7 and type 2 end with exon 8. All variants share the N-terminal region in common, which contains a mitochondrial targeting signal that is essential for mitochondrial localization. Many alternative splice variants for this gene have been described, but the full-length nature for every variant has not been determined. [provided by RefSeq, Aug 2008]
Other longevity studies of this gene
3
OMIM
601982
Ensembl
ENSG00000114026
UniProt/Swiss-Prot
E5KPM5_HUMAN
Entrez Gene
4968
UniGene
380271
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ogg1
Drosophila melanogaster
Ogg1
Mus musculus
Ogg1
Rattus norvegicus
Ogg1
Saccharomyces cerevisiae
OGG1

PDPK1

1.
Identifier
rs758319
Cytogenetic Location
16p13.3
UCSC Genome Browser
View 16p13.3 on the UCSC genome browser
2.
Identifier
rs3087784
Cytogenetic Location
16p13.3
UCSC Genome Browser
View 16p13.3 on the UCSC genome browser
3.
Identifier
rs1005273
Cytogenetic Location
16p13.3
UCSC Genome Browser
View 16p13.3 on the UCSC genome browser

Gene details

HGNC symbol
PDPK1
Aliases
PDK1; PDPK2; PDPK2P; PRO0461 
Common name
3-phosphoinositide dependent protein kinase 1 
Description
Other longevity studies of this gene
2
OMIM
605213
Ensembl
ENSG00000140992
UniProt/Swiss-Prot
PDPK1_HUMAN
Entrez Gene
5170
UniGene
459691
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
pdpk1b
Mus musculus
Pdpk1
Rattus norvegicus
Pdpk1

In other databases

GenAge human genes
  • This gene is present as PDPK1
CellAge
  • This gene is present as PDPK1

PER1

1.
Identifier
rs2253820
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser

Gene details

HGNC symbol
PER1
Aliases
PER; hPER; RIGUI 
Common name
period circadian clock 1 
Description
This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers. Alternative splicing has been observed in this gene; however, these variants have not been fully described. [provided by RefSeq, Jan 2014]
OMIM
602260
Ensembl
ENSG00000179094
UniProt/Swiss-Prot
PER1_HUMAN
Entrez Gene
5187
UniGene
445534
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
per1a
Mus musculus
Per1
Rattus norvegicus
Per1

In other databases

GenDR gene expression
  • A homolog of this gene for Mus musculus is present as Per1

PER2

1.
Identifier
rs2304672
Cytogenetic Location
2q37.3
UCSC Genome Browser
View 2q37.3 on the UCSC genome browser

Gene details

HGNC symbol
PER2
Aliases
FASPS; FASPS1 
Common name
period circadian clock 2 
Description
This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]
OMIM
603426
Ensembl
ENSG00000132326
UniProt/Swiss-Prot
PER2_HUMAN
Entrez Gene
8864
UniGene
58756
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
per2
Mus musculus
Per2
Rattus norvegicus
Per2

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Per2
GenDR gene expression
  • A homolog of this gene for Mus musculus is present as Per2

PER3

1.
Identifier
rs10462020
Cytogenetic Location
1p36.23
UCSC Genome Browser
View 1p36.23 on the UCSC genome browser

Gene details

HGNC symbol
PER3
Aliases
GIG13; FASPS3 
Common name
period circadian clock 3 
Description
This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]
OMIM
603427
Ensembl
ENSG00000049246
UniProt/Swiss-Prot
A0A087WV69_HUMAN
Entrez Gene
8863
UniGene
162200
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
per3
Drosophila melanogaster
per
Mus musculus
Per3
Rattus norvegicus
Per3

PIK3CA

1.
Identifier
rs870995
Cytogenetic Location
3q26.32
UCSC Genome Browser
View 3q26.32 on the UCSC genome browser
2.
Identifier
rs1607237
Cytogenetic Location
3q26.32
UCSC Genome Browser
View 3q26.32 on the UCSC genome browser
3.
Identifier
rs1568205
Cytogenetic Location
3q26.32
UCSC Genome Browser
View 3q26.32 on the UCSC genome browser

Gene details

HGNC symbol
PIK3CA
Aliases
MCM; CWS5; MCAP; PI3K; CLOVE; MCMTC; PI3K-alpha; p110-alpha 
Common name
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 
Description
Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
Other longevity studies of this gene
3
OMIM
171834
Ensembl
ENSG00000121879
UniProt/Swiss-Prot
PK3CA_HUMAN
Entrez Gene
5290
UniGene
553498
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC100334726
Mus musculus
Pik3ca
Rattus norvegicus
Pik3ca

In other databases

GenAge human genes
  • This gene is present as PIK3CA

PIK3R1

1.
Identifier
rs1445760
Cytogenetic Location
5q13.1
UCSC Genome Browser
View 5q13.1 on the UCSC genome browser
2.
Identifier
rs3730089
Cytogenetic Location
5q13.1
UCSC Genome Browser
View 5q13.1 on the UCSC genome browser
3.
Identifier
rs10940160
Cytogenetic Location
5q13.1
UCSC Genome Browser
View 5q13.1 on the UCSC genome browser
4.
Identifier
rs6890202
Cytogenetic Location
5q13.1
UCSC Genome Browser
View 5q13.1 on the UCSC genome browser

Gene details

HGNC symbol
PIK3R1
Aliases
p85; AGM7; GRB1; IMD36; p85-ALPHA 
Common name
phosphoinositide-3-kinase regulatory subunit 1 
Description
Phosphatidylinositol 3-kinase phosphorylates the inositol ring of phosphatidylinositol at the 3-prime position. The enzyme comprises a 110 kD catalytic subunit and a regulatory subunit of either 85, 55, or 50 kD. This gene encodes the 85 kD regulatory subunit. Phosphatidylinositol 3-kinase plays an important role in the metabolic actions of insulin, and a mutation in this gene has been associated with insulin resistance. Alternative splicing of this gene results in four transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]
Other longevity studies of this gene
3
OMIM
171833
Ensembl
ENSG00000145675
UniProt/Swiss-Prot
P85A_HUMAN
Entrez Gene
5295
UniGene
132225
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
pik3r1
Mus musculus
Pik3r1
Rattus norvegicus
Pik3r1

In other databases

GenAge human genes
  • This gene is present as PIK3R1

POMC

1.
Identifier
rs1042571
Cytogenetic Location
2p23.3
UCSC Genome Browser
View 2p23.3 on the UCSC genome browser

Gene details

HGNC symbol
POMC
Aliases
LPH; MSH; NPP; POC; ACTH; CLIP 
Common name
proopiomelanocortin 
Description
This gene encodes a preproprotein that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the preproprotein and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jan 2016]
OMIM
176830
Ensembl
ENSG00000115138
UniProt/Swiss-Prot
COLI_HUMAN
Entrez Gene
5443
UniGene
1897
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
pomca
Mus musculus
Pomc
Rattus norvegicus
Pomc

PON1

1.
Identifier
rs1157745
Cytogenetic Location
7q21.3
UCSC Genome Browser
View 7q21.3 on the UCSC genome browser
2.
Identifier
rs757158
In Other Studies (IDs)
2900
Cytogenetic Location
7q21.3
UCSC Genome Browser
View 7q21.3 on the UCSC genome browser
3.
Identifier
rs854556
Cytogenetic Location
7q21.3
UCSC Genome Browser
View 7q21.3 on the UCSC genome browser

Gene details

HGNC symbol
PON1
Aliases
ESA; PON; MVCD5 
Common name
paraoxonase 1 
Description
The enzyme encoded by this gene is an arylesterase that mainly hydrolyzes paroxon to produce p-nitrophenol. Paroxon is an organophosphorus anticholinesterase compound that is produced in vivo by oxidation of the insecticide parathion. Polymorphisms in this gene are a risk factor in coronary artery disease. The gene is found in a cluster of three related paraoxonase genes at 7q21.3. [provided by RefSeq, Oct 2008]
Other longevity studies of this gene
31
OMIM
168820
Ensembl
ENSG00000005421
UniProt/Swiss-Prot
PON1_HUMAN
Entrez Gene
5444
UniGene
370995
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Pon1
Rattus norvegicus
Pon1

In other databases

GenAge human genes
  • This gene is present as PON1

PON2

1.
Identifier
rs3735586
Cytogenetic Location
7q21.3
UCSC Genome Browser
View 7q21.3 on the UCSC genome browser
2.
Identifier
rs2375005
In Other Studies (IDs)
2973
Cytogenetic Location
7q21.3
UCSC Genome Browser
View 7q21.3 on the UCSC genome browser
3.
Identifier
rs2299263
Cytogenetic Location
7q21.3
UCSC Genome Browser
View 7q21.3 on the UCSC genome browser
4.
Identifier
rs1639
Cytogenetic Location
7q21.3
UCSC Genome Browser
View 7q21.3 on the UCSC genome browser

Gene details

HGNC symbol
PON2
Aliases
 
Common name
paraoxonase 2 
Description
This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
14
OMIM
602447
Ensembl
ENSG00000105854
UniProt/Swiss-Prot
A0A0J9YYG4_HUMAN
Entrez Gene
5445
UniGene
514420
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Pon2
Rattus norvegicus
Pon2

PPARA

1.
Identifier
rs5766741
Cytogenetic Location
22q13.31
UCSC Genome Browser
View 22q13.31 on the UCSC genome browser
2.
Identifier
rs9626814
Cytogenetic Location
22q13.31
UCSC Genome Browser
View 22q13.31 on the UCSC genome browser
3.
Identifier
rs135539
Cytogenetic Location
22q13.31
UCSC Genome Browser
View 22q13.31 on the UCSC genome browser

Gene details

HGNC symbol
PPARA
Aliases
PPAR; NR1C1; hPPAR; PPARalpha 
Common name
peroxisome proliferator activated receptor alpha 
Description
Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
170998
Ensembl
ENSG00000186951
UniProt/Swiss-Prot
F1D8S4_HUMAN
Entrez Gene
5465
UniGene
103110
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC100534818
Mus musculus
Ppara
Rattus norvegicus
Ppara

In other databases

GenAge human genes
  • This gene is present as PPARA
GenDR gene expression
  • A homolog of this gene for Mus musculus is present as Ppara

PPARGC1A

1.
Identifier
rs8192678
In Other Studies (IDs)
1882
Cytogenetic Location
4p15.2
UCSC Genome Browser
View 4p15.2 on the UCSC genome browser
2.
Identifier
rs12650562
Cytogenetic Location
4p15.2
UCSC Genome Browser
View 4p15.2 on the UCSC genome browser
3.
Identifier
rs2946385
Cytogenetic Location
4p15.2
UCSC Genome Browser
View 4p15.2 on the UCSC genome browser
4.
Identifier
rs4235308
Cytogenetic Location
4p15.2
UCSC Genome Browser
View 4p15.2 on the UCSC genome browser

Gene details

HGNC symbol
PPARGC1A
Aliases
LEM6; PGC1; PGC1A; PGC-1v; PPARGC1; PGC-1alpha; PGC-1(alpha) 
Common name
PPARG coactivator 1 alpha 
Description
The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
7
OMIM
604517
Ensembl
ENSG00000109819
UniProt/Swiss-Prot
A0A024R9Q9_HUMAN
Entrez Gene
10891
UniGene
527078
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ppargc1a
Mus musculus
Ppargc1a
Rattus norvegicus
Ppargc1a

In other databases

GenAge human genes

PPP1R9A

1.
Identifier
rs854544
Cytogenetic Location
7q21.3
UCSC Genome Browser
View 7q21.3 on the UCSC genome browser
2.
Identifier
rs854548
Cytogenetic Location
7q21.3
UCSC Genome Browser
View 7q21.3 on the UCSC genome browser

Gene details

HGNC symbol
PPP1R9A
Aliases
NRB1; NRBI; Neurabin-I 
Common name
protein phosphatase 1 regulatory subunit 9A 
Description
This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Other longevity studies of this gene
5
OMIM
602468
Ensembl
ENSG00000158528
UniProt/Swiss-Prot
A4D1I0_HUMAN
Entrez Gene
55607
UniGene
21816
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ppp1r9a
Drosophila melanogaster
Spn
Mus musculus
Ppp1r9a
Rattus norvegicus
Ppp1r9a

PRKAA1

1.
Identifier
rs12517210
Cytogenetic Location
5p13.1
UCSC Genome Browser
View 5p13.1 on the UCSC genome browser
2.
Identifier
rs837101
Cytogenetic Location
5p13.1
UCSC Genome Browser
View 5p13.1 on the UCSC genome browser
3.
Identifier
rs249429
Cytogenetic Location
5p13.1
UCSC Genome Browser
View 5p13.1 on the UCSC genome browser
4.
Identifier
rs466108
Cytogenetic Location
5p13.1
UCSC Genome Browser
View 5p13.1 on the UCSC genome browser

Gene details

HGNC symbol
PRKAA1
Aliases
AMPK; AMPKa1 
Common name
protein kinase AMP-activated catalytic subunit alpha 1 
Description
The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
3
OMIM
602739
Ensembl
ENSG00000132356
UniProt/Swiss-Prot
AAPK1_HUMAN
Entrez Gene
5562
UniGene
43322
HapMap
View on HapMap

Homologs in model organisms

No homologs found

PRKCA

1.
Identifier
rs17633401
Cytogenetic Location
17q24.2
UCSC Genome Browser
View 17q24.2 on the UCSC genome browser
2.
Identifier
rs1877848
Cytogenetic Location
17q24.2
UCSC Genome Browser
View 17q24.2 on the UCSC genome browser
3.
Identifier
rs721429
Cytogenetic Location
17q24.2
UCSC Genome Browser
View 17q24.2 on the UCSC genome browser
4.
Identifier
rs4381631
Cytogenetic Location
17q24.2
UCSC Genome Browser
View 17q24.2 on the UCSC genome browser

Gene details

HGNC symbol
PRKCA
Aliases
AAG6; PKCA; PRKACA; PKC-alpha 
Common name
protein kinase C alpha 
Description
Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
5
OMIM
176960
Ensembl
ENSG00000154229
UniProt/Swiss-Prot
KPCA_HUMAN
Entrez Gene
5578
UniGene
531704
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
prkca
Mus musculus
Prkca
Rattus norvegicus
Prkca

In other databases

GenAge human genes
  • This gene is present as PRKCA

PRKCB

1.
Identifier
rs195990
Cytogenetic Location
16p12.2-p12.1
UCSC Genome Browser
View 16p12.2-p12.1 on the UCSC genome browser
2.
Identifier
rs198145
Cytogenetic Location
16p12.2-p12.1
UCSC Genome Browser
View 16p12.2-p12.1 on the UCSC genome browser

Gene details

HGNC symbol
PRKCB
Aliases
PKCB; PRKCB1; PRKCB2; PKC-beta 
Common name
protein kinase C beta 
Description
Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase has been reported to be involved in many different cellular functions, such as B cell activation, apoptosis induction, endothelial cell proliferation, and intestinal sugar absorption. Studies in mice also suggest that this kinase may also regulate neuronal functions and correlate fear-induced conflict behavior after stress. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
176970
Ensembl
ENSG00000166501
UniProt/Swiss-Prot
KPCB_HUMAN
Entrez Gene
5579
UniGene
460355
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
prkcbb
Mus musculus
Prkcb
Rattus norvegicus
Prkcb

PTPN11

1.
Identifier
rs11066301
Cytogenetic Location
12q24.13
UCSC Genome Browser
View 12q24.13 on the UCSC genome browser
2.
Identifier
rs11066320
Cytogenetic Location
12q24.13
UCSC Genome Browser
View 12q24.13 on the UCSC genome browser
3.
Identifier
rs7313360
Cytogenetic Location
12q24.13
UCSC Genome Browser
View 12q24.13 on the UCSC genome browser

Gene details

HGNC symbol
PTPN11
Aliases
CFC; NS1; JMML; SHP2; BPTP3; PTP2C; METCDS; PTP-1D; SH-PTP2; SH-PTP3 
Common name
protein tyrosine phosphatase, non-receptor type 11 
Description
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]
Other longevity studies of this gene
2
OMIM
176876
Ensembl
ENSG00000179295
UniProt/Swiss-Prot
PTN11_HUMAN
Entrez Gene
5781
UniGene
506852
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_ZK616.8
Danio rerio
ptpn11a
Drosophila melanogaster
csw
Mus musculus
Ptpn11
Rattus norvegicus
Ptpn11
Schizosaccharomyces pombe
pyp3

In other databases

GenAge human genes
  • This gene is present as PTPN11

RAF1

1.
Identifier
rs1532533
Cytogenetic Location
3p25.2
UCSC Genome Browser
View 3p25.2 on the UCSC genome browser
2.
Identifier
rs11705805
Cytogenetic Location
3p25.2
UCSC Genome Browser
View 3p25.2 on the UCSC genome browser
3.
Identifier
rs3821611
Cytogenetic Location
3p25.2
UCSC Genome Browser
View 3p25.2 on the UCSC genome browser

Gene details

HGNC symbol
RAF1
Aliases
NS5; CRAF; Raf-1; c-Raf; CMD1NN 
Common name
Raf-1 proto-oncogene, serine/threonine kinase 
Description
This gene is the cellular homolog of viral raf gene (v-raf). The encoded protein is a MAP kinase kinase kinase (MAP3K), which functions downstream of the Ras family of membrane associated GTPases to which it binds directly. Once activated, the cellular RAF1 protein can phosphorylate to activate the dual specificity protein kinases MEK1 and MEK2, which in turn phosphorylate to activate the serine/threonine specific protein kinases, ERK1 and ERK2. Activated ERKs are pleiotropic effectors of cell physiology and play an important role in the control of gene expression involved in the cell division cycle, apoptosis, cell differentiation and cell migration. Mutations in this gene are associated with Noonan syndrome 5 and LEOPARD syndrome 2. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
164760
Ensembl
ENSG00000132155
UniProt/Swiss-Prot
A0A0S2Z4L5_HUMAN
Entrez Gene
5894
UniGene
159130
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
raf1b
Mus musculus
Raf1
Rattus norvegicus
Raf1

In other databases

CellAge
  • This gene is present as RAF1

RASA1

1.
Identifier
rs388340
Cytogenetic Location
5q14.3
UCSC Genome Browser
View 5q14.3 on the UCSC genome browser
2.
Identifier
rs3752862
Cytogenetic Location
5q14.3
UCSC Genome Browser
View 5q14.3 on the UCSC genome browser
3.
Identifier
rs16902632
Cytogenetic Location
5q14.3
UCSC Genome Browser
View 5q14.3 on the UCSC genome browser

Gene details

HGNC symbol
RASA1
Aliases
GAP; PKWS; RASA; p120; CMAVM; CM-AVM; RASGAP; p120GAP; p120RASGAP 
Common name
RAS p21 protein activator 1 
Description
The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]
Other longevity studies of this gene
2
OMIM
139150
Ensembl
ENSG00000145715
UniProt/Swiss-Prot
Q59GK3_HUMAN
Entrez Gene
5921
UniGene
664080
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
gap-3
Danio rerio
rasa1a
Drosophila melanogaster
vap
Mus musculus
Rasa1
Rattus norvegicus
Rasa1

RPTOR

1.
Identifier
rs12949279
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
2.
Identifier
rs7208502
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
3.
Identifier
rs2292639
In Other Studies (IDs)
2375
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
4.
Identifier
rs1062935
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser
5.
Identifier
rs7209040
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser

Gene details

HGNC symbol
RPTOR
Aliases
KOG1; Mip1 
Common name
regulatory associated protein of MTOR complex 1 
Description
This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Other longevity studies of this gene
63
OMIM
607130
Ensembl
ENSG00000141564
UniProt/Swiss-Prot
Q6DKI0_HUMAN
Entrez Gene
57521
UniGene
133044
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
daf-15
Danio rerio
rptor
Drosophila melanogaster
raptor
Mus musculus
Rptor
Rattus norvegicus
Rptor
Saccharomyces cerevisiae
KOG1
Schizosaccharomyces pombe
mip1

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as daf-15

SCAF4

1.
Identifier
rs12626475
Cytogenetic Location
21q22.11
UCSC Genome Browser
View 21q22.11 on the UCSC genome browser

Gene details

HGNC symbol
SCAF4
Aliases
SRA4; SFRS15 
Common name
SR-related CTD associated factor 4 
Description
This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
OMIM
616023
Ensembl
ENSG00000156304
UniProt/Swiss-Prot
SFR15_HUMAN
Entrez Gene
57466
UniGene
17255
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
scaf4a
Drosophila melanogaster
CG4266
Mus musculus
Scaf4
Rattus norvegicus
Scaf4

SHC1

1.
Identifier
rs4845401
Cytogenetic Location
1q21.3
UCSC Genome Browser
View 1q21.3 on the UCSC genome browser
2.
Identifier
rs1050947
Cytogenetic Location
1q21.3
UCSC Genome Browser
View 1q21.3 on the UCSC genome browser
3.
Identifier
rs6661212
Cytogenetic Location
1q21.3
UCSC Genome Browser
View 1q21.3 on the UCSC genome browser

Gene details

HGNC symbol
SHC1
Aliases
SHC; SHCA 
Common name
SHC adaptor protein 1 
Description
This gene encodes three main isoforms that differ in activities and subcellular location. While all three are adapter proteins in signal transduction pathways, the longest (p66Shc) may be involved in regulating life span and the effects of reactive oxygen species. The other two isoforms, p52Shc and p46Shc, link activated receptor tyrosine kinases to the Ras pathway by recruitment of the GRB2/SOS complex. p66Shc is not involved in Ras activation. Unlike the other two isoforms, p46Shc is targeted to the mitochondrial matrix. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Other longevity studies of this gene
4
OMIM
600560
Ensembl
ENSG00000160691
UniProt/Swiss-Prot
SHC1_HUMAN
Entrez Gene
6464
UniGene
433795
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
si:dkey-246i14.4
Mus musculus
Shc1
Rattus norvegicus
Shc1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Shc1
GenAge human genes
  • This gene is present as SHC1

SLC2A4

1.
Identifier
rs2654185
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser
2.
Identifier
rs5418
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser
3.
Identifier
rs5435
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser
4.
Identifier
rs35198331
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser

Gene details

HGNC symbol
SLC2A4
Aliases
GLUT4 
Common name
solute carrier family 2 member 4 
Description
This gene is a member of the solute carrier family 2 (facilitated glucose transporter) family and encodes a protein that functions as an insulin-regulated facilitative glucose transporter. In the absence of insulin, this integral membrane protein is sequestered within the cells of muscle and adipose tissue. Within minutes of insulin stimulation, the protein moves to the cell surface and begins to transport glucose across the cell membrane. Mutations in this gene have been associated with noninsulin-dependent diabetes mellitus (NIDDM). [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
3
OMIM
138190
Ensembl
ENSG00000181856
UniProt/Swiss-Prot
GTR4_HUMAN
Entrez Gene
6517
UniGene
380691
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Slc2a4
Rattus norvegicus
Slc2a4

SLC6A3

1.
Identifier
rs2652511
Cytogenetic Location
5p15.33
UCSC Genome Browser
View 5p15.33 on the UCSC genome browser

Gene details

HGNC symbol
SLC6A3
Aliases
DAT; DAT1; PKDYS 
Common name
solute carrier family 6 member 3 
Description
This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.[provided by RefSeq, Nov 2009]
OMIM
126455
Ensembl
ENSG00000142319
UniProt/Swiss-Prot
SC6A3_HUMAN
Entrez Gene
6531
UniGene
406
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
dat-1
Danio rerio
uncharacterized_F1QG
Drosophila melanogaster
DAT
Mus musculus
Slc6a3
Rattus norvegicus
Slc6a3

SOCS1

1.
Identifier
rs4780355
Cytogenetic Location
16p13.13
UCSC Genome Browser
View 16p13.13 on the UCSC genome browser
2.
Identifier
rs193779
Cytogenetic Location
16p13.13
UCSC Genome Browser
View 16p13.13 on the UCSC genome browser

Gene details

HGNC symbol
SOCS1
Aliases
JAB; CIS1; SSI1; TIP3; CISH1; SSI-1; SOCS-1 
Common name
suppressor of cytokine signaling 1 
Description
This gene encodes a member of the STAT-induced STAT inhibitor (SSI), also known as suppressor of cytokine signaling (SOCS), family. SSI family members are cytokine-inducible negative regulators of cytokine signaling. The expression of this gene can be induced by a subset of cytokines, including IL2, IL3 erythropoietin (EPO), CSF2/GM-CSF, and interferon (IFN)-gamma. The protein encoded by this gene functions downstream of cytokine receptors, and takes part in a negative feedback loop to attenuate cytokine signaling. Knockout studies in mice suggested the role of this gene as a modulator of IFN-gamma action, which is required for normal postnatal growth and survival. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
603597
Ensembl
ENSG00000185338
UniProt/Swiss-Prot
Q4JHT5_HUMAN
Entrez Gene
8651
UniGene
50640
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_F39B2.5
Danio rerio
socs1a
Drosophila melanogaster
Socs44A
Mus musculus
Socs1
Rattus norvegicus
Socs1

In other databases

CellAge
  • This gene is present as SOCS1

SOD1

1.
Identifier
rs4998557
In Other Studies (IDs)
2134 3052
Cytogenetic Location
21q22.11
UCSC Genome Browser
View 21q22.11 on the UCSC genome browser
2.
Identifier
rs9967983
Cytogenetic Location
21q22.11
UCSC Genome Browser
View 21q22.11 on the UCSC genome browser

Gene details

HGNC symbol
SOD1
Aliases
ALS; SOD; ALS1; IPOA; hSod1; HEL-S-44; homodimer 
Common name
superoxide dismutase 1 
Description
The protein encoded by this gene binds copper and zinc ions and is one of two isozymes responsible for destroying free superoxide radicals in the body. The encoded isozyme is a soluble cytoplasmic protein, acting as a homodimer to convert naturally-occuring but harmful superoxide radicals to molecular oxygen and hydrogen peroxide. The other isozyme is a mitochondrial protein. Mutations in this gene have been implicated as causes of familial amyotrophic lateral sclerosis. Rare transcript variants have been reported for this gene. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
7
OMIM
147450
Ensembl
ENSG00000142168
UniProt/Swiss-Prot
SODC_HUMAN
Entrez Gene
6647
UniGene
443914
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
sod-5
Danio rerio
sod1
Drosophila melanogaster
Sod
Mus musculus
Sod1
Rattus norvegicus
Sod1
Saccharomyces cerevisiae
SOD1
Schizosaccharomyces pombe
sod1

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as SOD1
  • A homolog of this gene for Drosophila melanogaster is present as Sod
GenAge human genes
  • This gene is present as SOD1
GenDR gene manipulations
  • A homolog of this gene for Saccharomyces cerevisiae is present as SOD1
CellAge
  • This gene is present as SOD1

SOD2

1.
Identifier
rs2758331
In Other Studies (IDs)
1472 2168
Cytogenetic Location
6q25.3
UCSC Genome Browser
View 6q25.3 on the UCSC genome browser
2.
Identifier
rs5746105
Cytogenetic Location
6q25.3
UCSC Genome Browser
View 6q25.3 on the UCSC genome browser
3.
Identifier
rs4880
In Other Studies (IDs)
364 2285
Cytogenetic Location
6q25.3
UCSC Genome Browser
View 6q25.3 on the UCSC genome browser

Gene details

HGNC symbol
SOD2
Aliases
IPOB; IPO-B; MNSOD; MVCD6; Mn-SOD 
Common name
superoxide dismutase 2 
Description
This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1. [provided by RefSeq, Apr 2016]
Other longevity studies of this gene
21
OMIM
147460
Ensembl
ENSG00000112096
UniProt/Swiss-Prot
A0A0C4DFU1_HUMAN
Entrez Gene
6648
UniGene
487046
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
sod-3
Danio rerio
sod2
Drosophila melanogaster
Sod2
Mus musculus
Sod2
Rattus norvegicus
Sod2
Saccharomyces cerevisiae
SOD2
Schizosaccharomyces pombe
SPBC16A3.14

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as SOD2
  • A homolog of this gene for Drosophila melanogaster is present as Sod2
  • A homolog of this gene for Mus musculus is present as Sod2
GenAge human genes
  • This gene is present as SOD2
GenDR gene manipulations
  • A homolog of this gene for Saccharomyces cerevisiae is present as SOD2

SOD3

1.
Identifier
rs2536512
In Other Studies (IDs)
2160
Cytogenetic Location
4p15.2
UCSC Genome Browser
View 4p15.2 on the UCSC genome browser
2.
Identifier
rs2855262
In Other Studies (IDs)
3058
Cytogenetic Location
4p15.2
UCSC Genome Browser
View 4p15.2 on the UCSC genome browser
3.
Identifier
rs2284659
In Other Studies (IDs)
3056
Cytogenetic Location
4p15.2
UCSC Genome Browser
View 4p15.2 on the UCSC genome browser

Gene details

HGNC symbol
SOD3
Aliases
EC-SOD 
Common name
superoxide dismutase 3 
Description
This gene encodes a member of the superoxide dismutase (SOD) protein family. SODs are antioxidant enzymes that catalyze the conversion of superoxide radicals into hydrogen peroxide and oxygen, which may protect the brain, lungs, and other tissues from oxidative stress. Proteolytic processing of the encoded protein results in the formation of two distinct homotetramers that differ in their ability to interact with the extracellular matrix (ECM). Homotetramers consisting of the intact protein, or type C subunit, exhibit high affinity for heparin and are anchored to the ECM. Homotetramers consisting of a proteolytically cleaved form of the protein, or type A subunit, exhibit low affinity for heparin and do not interact with the ECM. A mutation in this gene may be associated with increased heart disease risk. [provided by RefSeq, Oct 2015]
Other longevity studies of this gene
16
OMIM
185490
Ensembl
ENSG00000109610
UniProt/Swiss-Prot
A0A140VJU8_HUMAN
Entrez Gene
6649
UniGene
2420
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
sod3a
Mus musculus
Sod3
Rattus norvegicus
Sod3

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as SOD3

SOS1

1.
Identifier
rs1059310
Cytogenetic Location
2p22.1
UCSC Genome Browser
View 2p22.1 on the UCSC genome browser
2.
Identifier
rs2888586
Cytogenetic Location
2p22.1
UCSC Genome Browser
View 2p22.1 on the UCSC genome browser
3.
Identifier
rs963828
Cytogenetic Location
2p22.1
UCSC Genome Browser
View 2p22.1 on the UCSC genome browser

Gene details

HGNC symbol
SOS1
Aliases
GF1; HGF; NS4; GGF1; GINGF 
Common name
SOS Ras/Rac guanine nucleotide exchange factor 1 
Description
This gene encodes a protein that is a guanine nucleotide exchange factor for RAS proteins, membrane proteins that bind guanine nucleotides and participate in signal transduction pathways. GTP binding activates and GTP hydrolysis inactivates RAS proteins. The product of this gene may regulate RAS proteins by facilitating the exchange of GTP for GDP. Mutations in this gene are associated with gingival fibromatosis 1 and Noonan syndrome type 4. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
182530
Ensembl
ENSG00000115904
UniProt/Swiss-Prot
G5E9C8_HUMAN
Entrez Gene
6654
UniGene
709893
HapMap
View on HapMap

Homologs in model organisms

Drosophila melanogaster
Sos
Mus musculus
Sos1
Rattus norvegicus
Sos1

SULT1A1

1.
Identifier
rs4149396
Cytogenetic Location
16p11.2
UCSC Genome Browser
View 16p11.2 on the UCSC genome browser
2.
Identifier
rs2411453
Cytogenetic Location
16p11.2
UCSC Genome Browser
View 16p11.2 on the UCSC genome browser

Gene details

HGNC symbol
SULT1A1
Aliases
PST; STP; STP1; P-PST; ST1A1; ST1A3; TSPST1; HAST1/HAST2 
Common name
sulfotransferase family 1A member 1 
Description
Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Multiple alternatively spliced variants that encode two isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
171150
Ensembl
ENSG00000196502
UniProt/Swiss-Prot
ST1A1_HUMAN
Entrez Gene
6817
UniGene
567342
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
sult1st5

SULT1A2

1.
Identifier
rs762634
Cytogenetic Location
16p11.2
UCSC Genome Browser
View 16p11.2 on the UCSC genome browser
2.
Identifier
rs1059491
Cytogenetic Location
16p11.2
UCSC Genome Browser
View 16p11.2 on the UCSC genome browser
3.
Identifier
rs3743963
Cytogenetic Location
16p11.2
UCSC Genome Browser
View 16p11.2 on the UCSC genome browser

Gene details

HGNC symbol
SULT1A2
Aliases
STP2; HAST4; P-PST; ST1A2; TSPST2 
Common name
sulfotransferase family 1A member 2 
Description
Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes one of two phenol sulfotransferases with thermostable enzyme activity. Two alternatively spliced variants that encode the same protein have been described. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
601292
Ensembl
ENSG00000197165
UniProt/Swiss-Prot
E9PKW4_HUMAN
Entrez Gene
6799
UniGene
546304
HapMap
View on HapMap

Homologs in model organisms

No homologs found

TAB1

1.
Identifier
rs7949
Cytogenetic Location
22q13.1
UCSC Genome Browser
View 22q13.1 on the UCSC genome browser

Gene details

HGNC symbol
TAB1
Aliases
3'-Tab1; MAP3K7IP1 
Common name
TGF-beta activated kinase 1 (MAP3K7) binding protein 1 
Description
The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
OMIM
602615
Ensembl
ENSG00000100324
UniProt/Swiss-Prot
A8K6K3_HUMAN
Entrez Gene
10454
UniGene
507681
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
tap-1
Danio rerio
tab1
Mus musculus
Tab1
Rattus norvegicus
Tab1

TGFB1

1.
Identifier
rs8179181
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
2.
Identifier
rs4803455
In Other Studies (IDs)
1543
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
3.
Identifier
rs2241715
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
4.
Identifier
rs1800471
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser
5.
Identifier
rs1982073
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser

Gene details

HGNC symbol
TGFB1
Aliases
CED; LAP; DPD1; TGFB; TGFbeta 
Common name
transforming growth factor beta 1 
Description
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]
Other longevity studies of this gene
17
OMIM
190180
Ensembl
ENSG00000105329
UniProt/Swiss-Prot
TGFB1_HUMAN
Entrez Gene
7040
UniGene
645227
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Tgfb1
Rattus norvegicus
Tgfb1

In other databases

GenAge human genes
  • This gene is present as TGFB1

TH

1.
Identifier
rs2070762
Cytogenetic Location
11p15.5
UCSC Genome Browser
View 11p15.5 on the UCSC genome browser

Gene details

HGNC symbol
TH
Aliases
TYH; DYT14; DYT5b 
Common name
tyrosine hydroxylase 
Description
The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
4
OMIM
191290
Ensembl
ENSG00000180176
UniProt/Swiss-Prot
P78428_HUMAN
Entrez Gene
7054
UniGene
435609
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
th
Drosophila melanogaster
ple
Mus musculus
Th
Rattus norvegicus
Th

TNF

1.
Identifier
rs1800629
In Other Studies (IDs)
1205 2067
Cytogenetic Location
6p21.33
UCSC Genome Browser
View 6p21.33 on the UCSC genome browser
2.
Identifier
rs2857712
Cytogenetic Location
6p21.33
UCSC Genome Browser
View 6p21.33 on the UCSC genome browser

Gene details

HGNC symbol
TNF
Aliases
DIF; TNFA; TNFSF2; TNLG1F; TNF-alpha 
Common name
tumor necrosis factor 
Description
This gene encodes a multifunctional proinflammatory cytokine that belongs to the tumor necrosis factor (TNF) superfamily. This cytokine is mainly secreted by macrophages. It can bind to, and thus functions through its receptors TNFRSF1A/TNFR1 and TNFRSF1B/TNFBR. This cytokine is involved in the regulation of a wide spectrum of biological processes including cell proliferation, differentiation, apoptosis, lipid metabolism, and coagulation. This cytokine has been implicated in a variety of diseases, including autoimmune diseases, insulin resistance, and cancer. Knockout studies in mice also suggested the neuroprotective function of this cytokine. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
13
OMIM
191160
Ensembl
ENSG00000232810
UniProt/Swiss-Prot
Q5STB3_HUMAN
Entrez Gene
7124
UniGene
241570
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Tnf
Rattus norvegicus
Tnf

In other databases

GenAge human genes
  • This gene is present as TNF

TP53

1.
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser
2.
Identifier
rs1625895
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser
3.
Identifier
rs1042522
In Other Studies (IDs)
285 381
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser

Gene details

HGNC symbol
TP53
Aliases
P53; BCC7; LFS1; TRP53 
Common name
tumor protein p53 
Description
This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
Other longevity studies of this gene
47
OMIM
191170
Ensembl
ENSG00000141510
UniProt/Swiss-Prot
A0A087WT22_HUMAN
Entrez Gene
7157
UniGene
437460
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tp53
Mus musculus
Tp53
Rattus norvegicus
Tp53

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Trp53
GenAge human genes
  • This gene is present as TP53
CellAge
  • This gene is present as TP53

References

Di Cianni et al. (2013)

Other variants which are also part of this study