LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
Danish
Study Design
592 SNPs from 77 genes involved in nine sub-processes were analyzed in 1089 long-lived and 736 middle-aged Danes. Then, a replicated study was carried out in a German cohort.
Conclusions
The results did not remain significant after correction. The findings drawn from the Danish cohort were not replicated in German samples.

Variants (592)

No gene

1.
Identifier
rs10826176
Cytogenetic Location
2.
Identifier
rs12355138
Cytogenetic Location
3.
Identifier
rs1466785
Cytogenetic Location
4.
Identifier
rs10119641
Cytogenetic Location
5.
Identifier
rs12644680
Cytogenetic Location

APEX1

1.
Identifier
rs3136817
Cytogenetic Location
14q11.2
UCSC Genome Browser
View 14q11.2 on the UCSC genome browser
2.
Identifier
rs1048945
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

APTX

1.
Identifier
rs1197774
Cytogenetic Location
9p21.1
UCSC Genome Browser
View 9p21.1 on the UCSC genome browser
2.
Identifier
rs3780476
Cytogenetic Location
9p21.1
UCSC Genome Browser
View 9p21.1 on the UCSC genome browser
3.
Identifier
rs1016674
Cytogenetic Location
9p21.1
UCSC Genome Browser
View 9p21.1 on the UCSC genome browser
4.
Identifier
rs1125479
Cytogenetic Location
9p21.1
UCSC Genome Browser
View 9p21.1 on the UCSC genome browser
5.
Identifier
rs13296038
Cytogenetic Location
9p21.1
UCSC Genome Browser
View 9p21.1 on the UCSC genome browser
6.
Identifier
rs10971264
Cytogenetic Location
9p21.1
UCSC Genome Browser
View 9p21.1 on the UCSC genome browser
7.
Identifier
rs10813916
Cytogenetic Location
9p21.1
UCSC Genome Browser
View 9p21.1 on the UCSC genome browser
8.
Identifier
rs3824457
Cytogenetic Location
9p21.1
UCSC Genome Browser
View 9p21.1 on the UCSC genome browser

Gene details

HGNC symbol
APTX
Aliases
AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT 
Common name
aprataxin 
Description
This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
Other longevity studies of this gene
7
OMIM
606350
Ensembl
ENSG00000137074
UniProt/Swiss-Prot
APTX_HUMAN
Entrez Gene
54840
UniGene
20158
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
aptx
Mus musculus
Aptx
Rattus norvegicus
Aptx
Schizosaccharomyces pombe
hnt3

In other databases

GenAge human genes
  • This gene is present as APTX

ATM

1.
Identifier
rs664677
In Other Studies (IDs)
2770
Cytogenetic Location
11q22.3
UCSC Genome Browser
View 11q22.3 on the UCSC genome browser
2.
Identifier
rs639923
Cytogenetic Location
11q22.3
UCSC Genome Browser
View 11q22.3 on the UCSC genome browser
3.
Identifier
rs17503908
Cytogenetic Location
11q22.3
UCSC Genome Browser
View 11q22.3 on the UCSC genome browser
4.
Identifier
rs170548
Cytogenetic Location
11q22.3
UCSC Genome Browser
View 11q22.3 on the UCSC genome browser
5.
Identifier
rs1800889
Cytogenetic Location
11q22.3
UCSC Genome Browser
View 11q22.3 on the UCSC genome browser
6.
Identifier
rs611646
In Other Studies (IDs)
2779
Cytogenetic Location
11q22.3
UCSC Genome Browser
View 11q22.3 on the UCSC genome browser
7.
Identifier
rs1800058
Cytogenetic Location
11q22.3
UCSC Genome Browser
View 11q22.3 on the UCSC genome browser
8.
Identifier
rs1801516
In Other Studies (IDs)
2776
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
rs9856772
Cytogenetic Location
3q23
UCSC Genome Browser
View 3q23 on the UCSC genome browser
2.
Identifier
rs10804682
In Other Studies (IDs)
2787
Cytogenetic Location
3q23
UCSC Genome Browser
View 3q23 on the UCSC genome browser
3.
Identifier
rs1802904
Cytogenetic Location
3q23
UCSC Genome Browser
View 3q23 on the UCSC genome browser
4.
Identifier
rs2227928
In Other Studies (IDs)
2793
Cytogenetic Location
3q23
UCSC Genome Browser
View 3q23 on the UCSC genome browser
5.
Identifier
rs11920625
Cytogenetic Location
3q23
UCSC Genome Browser
View 3q23 on the UCSC genome browser
6.
Identifier
rs7630115
Cytogenetic Location
3q23
UCSC Genome Browser
View 3q23 on the UCSC genome browser
7.
Identifier
rs2229032
Cytogenetic Location
3q23
UCSC Genome Browser
View 3q23 on the UCSC genome browser
8.
Identifier
rs6805118
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

BIVM

1.
Identifier
rs9514065
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser

Gene details

HGNC symbol
BIVM
Aliases
 
Common name
basic, immunoglobulin-like variable motif containing 
Description
OMIM
Ensembl
ENSG00000134897
UniProt/Swiss-Prot
BIVM_HUMAN
Entrez Gene
54841
UniGene
288809
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
bivm
Mus musculus
Bivm
Rattus norvegicus
Bivm

BLM

1.
Identifier
rs2518967
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
2.
Identifier
rs389480
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
3.
Identifier
rs2518968
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
4.
Identifier
rs2270132
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
5.
Identifier
rs2532105
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
6.
Identifier
rs401549
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
7.
Identifier
rs7179346
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
8.
Identifier
rs3784782
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
9.
Identifier
rs4932365
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
10.
Identifier
rs3815003
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
11.
Identifier
rs414634
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
12.
Identifier
rs7184015
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
13.
Identifier
rs7165790
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
14.
Identifier
rs7162960
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
15.
Identifier
rs7165117
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser

Gene details

HGNC symbol
BLM
Aliases
BS; RECQ2; RECQL2; RECQL3 
Common name
Bloom syndrome RecQ like helicase 
Description
The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
14
OMIM
604610
Ensembl
ENSG00000197299
UniProt/Swiss-Prot
B7ZKN7_HUMAN
Entrez Gene
641
UniGene
725208
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
blm
Drosophila melanogaster
mus309
Mus musculus
Blm
Rattus norvegicus
Blm
Schizosaccharomyces pombe
rqh1

In other databases

GenAge human genes
  • This gene is present as BLM

BRIP1

1.
Identifier
rs4988357
Cytogenetic Location
17q23.2
UCSC Genome Browser
View 17q23.2 on the UCSC genome browser
2.
Identifier
rs4986764
Cytogenetic Location
17q23.2
UCSC Genome Browser
View 17q23.2 on the UCSC genome browser
3.
Identifier
rs2191248
Cytogenetic Location
17q23.2
UCSC Genome Browser
View 17q23.2 on the UCSC genome browser
4.
Identifier
rs2378908
Cytogenetic Location
17q23.2
UCSC Genome Browser
View 17q23.2 on the UCSC genome browser
5.
Identifier
rs9908659
Cytogenetic Location
17q23.2
UCSC Genome Browser
View 17q23.2 on the UCSC genome browser
6.
Identifier
rs16945628
Cytogenetic Location
17q23.2
UCSC Genome Browser
View 17q23.2 on the UCSC genome browser
7.
Identifier
rs16945643
Cytogenetic Location
17q23.2
UCSC Genome Browser
View 17q23.2 on the UCSC genome browser
8.
Identifier
rs8077088
Cytogenetic Location
17q23.2
UCSC Genome Browser
View 17q23.2 on the UCSC genome browser
9.
Identifier
rs6504063
Cytogenetic Location
17q23.2
UCSC Genome Browser
View 17q23.2 on the UCSC genome browser
10.
Identifier
rs2048718
Cytogenetic Location
17q23.2
UCSC Genome Browser
View 17q23.2 on the UCSC genome browser
11.
Identifier
rs4988340
Cytogenetic Location
17q23.2
UCSC Genome Browser
View 17q23.2 on the UCSC genome browser
12.
Identifier
rs11652980
Cytogenetic Location
17q23.2
UCSC Genome Browser
View 17q23.2 on the UCSC genome browser
13.
Identifier
rs8076746
Cytogenetic Location
17q23.2
UCSC Genome Browser
View 17q23.2 on the UCSC genome browser

Gene details

HGNC symbol
BRIP1
Aliases
OF; BACH1; FANCJ 
Common name
BRCA1 interacting protein C-terminal helicase 1 
Description
The protein encoded by this gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). The bound complex is important in the normal double-strand break repair function of breast cancer, type 1 (BRCA1). This gene may be a target of germline cancer-inducing mutations. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
12
OMIM
605882
Ensembl
ENSG00000136492
UniProt/Swiss-Prot
A0A024QZ45_HUMAN
Entrez Gene
83990
UniGene
128903
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
dog-1
Danio rerio
brip1
Mus musculus
Brip1

BRPF1

1.
Identifier
rs159153
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser

Gene details

HGNC symbol
BRPF1
Aliases
BR140; IDDDFP 
Common name
bromodomain and PHD finger containing 1 
Description
This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
OMIM
602410
Ensembl
ENSG00000156983
UniProt/Swiss-Prot
BRPF1_HUMAN
Entrez Gene
7862
UniGene
1004
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
uncharacterized_H9GX
Mus musculus
Brpf1
Rattus norvegicus
Brpf1

CAMK1

1.
Identifier
rs17252807
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser
2.
Identifier
rs2304277
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser
3.
Identifier
rs293796
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser
4.
Identifier
rs293794
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser

Gene details

HGNC symbol
CAMK1
Aliases
CAMKI 
Common name
calcium/calmodulin dependent protein kinase I 
Description
Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
3
OMIM
604998
Ensembl
ENSG00000134072
UniProt/Swiss-Prot
B0YIY3_HUMAN
Entrez Gene
8536
UniGene
434875
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC555945
Mus musculus
Camk1
Rattus norvegicus
Camk1

CARMIL2

1.
Identifier
rs6979
Cytogenetic Location
16q22.1
UCSC Genome Browser
View 16q22.1 on the UCSC genome browser
2.
Identifier
rs14920
Cytogenetic Location
16q22.1
UCSC Genome Browser
View 16q22.1 on the UCSC genome browser

Gene details

HGNC symbol
CARMIL2
Aliases
RLTPR; LRRC16C; CARMIL2b 
Common name
capping protein regulator and myosin 1 linker 2 
Description
Other longevity studies of this gene
1
OMIM
610859
Ensembl
ENSG00000159753
UniProt/Swiss-Prot
CARL2_HUMAN
Entrez Gene
146206
UniGene
611432
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
crml-1
Danio rerio
si:dkey-6e12.3
Mus musculus
Rltpr
Rattus norvegicus
RGD1562390

CIDECP

1.
Identifier
rs6775725
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser

Gene details

HGNC symbol
CIDECP
Aliases
CICE 
Common name
cell death-inducing DFFA-like effector c pseudogene 
Description
OMIM
Ensembl
ENSG00000186162
UniProt/Swiss-Prot
Entrez Gene
152302
UniGene
635072
HapMap
View on HapMap

Homologs in model organisms

No homologs found

DCLRE1C

1.
Identifier
rs7906952
Cytogenetic Location
10p13
UCSC Genome Browser
View 10p13 on the UCSC genome browser
2.
Identifier
rs7920514
Cytogenetic Location
10p13
UCSC Genome Browser
View 10p13 on the UCSC genome browser
3.
Identifier
rs3814176
Cytogenetic Location
10p13
UCSC Genome Browser
View 10p13 on the UCSC genome browser
4.
Identifier
rs11259405
Cytogenetic Location
10p13
UCSC Genome Browser
View 10p13 on the UCSC genome browser
5.
Identifier
rs4237441
Cytogenetic Location
10p13
UCSC Genome Browser
View 10p13 on the UCSC genome browser
6.
Identifier
rs7916722
Cytogenetic Location
10p13
UCSC Genome Browser
View 10p13 on the UCSC genome browser
7.
Identifier
rs10128350
Cytogenetic Location
10p13
UCSC Genome Browser
View 10p13 on the UCSC genome browser
8.
Identifier
rs11593133
Cytogenetic Location
10p13
UCSC Genome Browser
View 10p13 on the UCSC genome browser
9.
Identifier
rs10796227
Cytogenetic Location
10p13
UCSC Genome Browser
View 10p13 on the UCSC genome browser
10.
Identifier
rs10906777
Cytogenetic Location
10p13
UCSC Genome Browser
View 10p13 on the UCSC genome browser
11.
Identifier
rs12572872
Cytogenetic Location
10p13
UCSC Genome Browser
View 10p13 on the UCSC genome browser
12.
Identifier
rs7900814
Cytogenetic Location
10p13
UCSC Genome Browser
View 10p13 on the UCSC genome browser

Gene details

HGNC symbol
DCLRE1C
Aliases
SCIDA; SNM1C; A-SCID; RS-SCID; DCLREC1C 
Common name
DNA cross-link repair 1C 
Description
This gene encodes a nuclear protein that is involved in V(D)J recombination and DNA repair. The encoded protein has single-strand-specific 5'-3' exonuclease activity; it also exhibits endonuclease activity on 5' and 3' overhangs and hairpins. The protein also functions in the regulation of the cell cycle in response to DNA damage. Mutations in this gene can cause Athabascan-type severe combined immunodeficiency (SCIDA) and Omenn syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Other longevity studies of this gene
11
OMIM
605988
Ensembl
ENSG00000152457
UniProt/Swiss-Prot
B3KMX5_HUMAN
Entrez Gene
64421
UniGene
655932
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
dclre1b
Mus musculus
Dclre1c
Rattus norvegicus
Dclre1b

DDB1

1.
Identifier
rs17549396
Cytogenetic Location
11q12.2
UCSC Genome Browser
View 11q12.2 on the UCSC genome browser
2.
Identifier
rs9651726
Cytogenetic Location
11q12.2
UCSC Genome Browser
View 11q12.2 on the UCSC genome browser
3.
Identifier
rs2230356
Cytogenetic Location
11q12.2
UCSC Genome Browser
View 11q12.2 on the UCSC genome browser

Gene details

HGNC symbol
DDB1
Aliases
XPE; DDBA; XAP1; XPCE; XPE-BF; UV-DDB1 
Common name
damage specific DNA binding protein 1 
Description
The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]
Other longevity studies of this gene
2
OMIM
600045
Ensembl
ENSG00000167986
UniProt/Swiss-Prot
DDB1_HUMAN
Entrez Gene
1642
UniGene
290758
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
ddb-1
Drosophila melanogaster
pic
Mus musculus
Ddb1
Rattus norvegicus
Ddb1
Schizosaccharomyces pombe
ddb1

DDB2

1.
Identifier
rs1685404
Cytogenetic Location
11p11.2
UCSC Genome Browser
View 11p11.2 on the UCSC genome browser
2.
Identifier
rs2291120
Cytogenetic Location
11p11.2
UCSC Genome Browser
View 11p11.2 on the UCSC genome browser
3.
Identifier
rs3824866
Cytogenetic Location
11p11.2
UCSC Genome Browser
View 11p11.2 on the UCSC genome browser
4.
Identifier
rs4647709
Cytogenetic Location
11p11.2
UCSC Genome Browser
View 11p11.2 on the UCSC genome browser
5.
Identifier
rs2013867
Cytogenetic Location
11p11.2
UCSC Genome Browser
View 11p11.2 on the UCSC genome browser
6.
Identifier
rs4567413
Cytogenetic Location
11p11.2
UCSC Genome Browser
View 11p11.2 on the UCSC genome browser

Gene details

HGNC symbol
DDB2
Aliases
XPE; DDBB; UV-DDB2 
Common name
damage specific DNA binding protein 2 
Description
This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Other longevity studies of this gene
5
OMIM
600811
Ensembl
ENSG00000134574
UniProt/Swiss-Prot
DDB2_HUMAN
Entrez Gene
1643
UniGene
700338
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ddb2
Mus musculus
Ddb2
Rattus norvegicus
Ddb2

In other databases

CellAge
  • This gene is present as DDB2

ERCC1

1.
Identifier
rs11615
In Other Studies (IDs)
1900
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
2.
Identifier
rs3212948
In Other Studies (IDs)
2321
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
3.
Identifier
rs3212955
In Other Studies (IDs)
1897
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
4.
Identifier
rs3212964
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
5.
Identifier
rs762562
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
6.
Identifier
rs3212961
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
rs3916874
In Other Studies (IDs)
1906
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
2.
Identifier
rs13181
In Other Studies (IDs)
1904
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
3.
Identifier
rs3810366
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
4.
Identifier
rs50872
In Other Studies (IDs)
1913
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
5.
Identifier
rs50871
In Other Studies (IDs)
1917
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
6.
Identifier
rs238407
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
7.
Identifier
rs238404
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
8.
Identifier
rs1799788
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser
9.
Identifier
rs238415
In Other Studies (IDs)
1908
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

ERCC3

1.
Identifier
rs4150459
Cytogenetic Location
2q14.3
UCSC Genome Browser
View 2q14.3 on the UCSC genome browser
2.
Identifier
rs4150454
Cytogenetic Location
2q14.3
UCSC Genome Browser
View 2q14.3 on the UCSC genome browser
3.
Identifier
rs4150403
Cytogenetic Location
2q14.3
UCSC Genome Browser
View 2q14.3 on the UCSC genome browser
4.
Identifier
rs4150506
Cytogenetic Location
2q14.3
UCSC Genome Browser
View 2q14.3 on the UCSC genome browser

Gene details

HGNC symbol
ERCC3
Aliases
XPB; BTF2; TTD2; GTF2H; RAD25; TFIIH 
Common name
ERCC excision repair 3, TFIIH core complex helicase subunit 
Description
This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Other longevity studies of this gene
3
OMIM
133510
Ensembl
ENSG00000163161
UniProt/Swiss-Prot
B3KRG2_HUMAN
Entrez Gene
2071
UniGene
469872
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_Y66D12A.15
Danio rerio
ercc3
Drosophila melanogaster
hay
Mus musculus
Ercc3
Rattus norvegicus
Ercc3
Saccharomyces cerevisiae
SSL2
Schizosaccharomyces pombe
ercc3

In other databases

GenAge human genes
  • This gene is present as ERCC3

ERCC4

1.
Identifier
rs3136202
Cytogenetic Location
16p13.12
UCSC Genome Browser
View 16p13.12 on the UCSC genome browser
2.
Identifier
rs1799802
Cytogenetic Location
16p13.12
UCSC Genome Browser
View 16p13.12 on the UCSC genome browser
3.
Identifier
rs1800067
Cytogenetic Location
16p13.12
UCSC Genome Browser
View 16p13.12 on the UCSC genome browser

Gene details

HGNC symbol
ERCC4
Aliases
XPF; RAD1; FANCQ; XFEPS; ERCC11 
Common name
ERCC excision repair 4, endonuclease catalytic subunit 
Description
The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma pigmentosum VI (XP6).[provided by RefSeq, Mar 2009]
Other longevity studies of this gene
2
OMIM
133520
Ensembl
ENSG00000175595
UniProt/Swiss-Prot
B4DXD8_HUMAN
Entrez Gene
2072
UniGene
567265
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
C47D12.8
Danio rerio
ercc4
Drosophila melanogaster
mei-9
Mus musculus
Ercc4
Rattus norvegicus
LOC688631
Saccharomyces cerevisiae
RAD1
Schizosaccharomyces pombe
rad16

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Ercc4
GenAge human genes
  • This gene is present as ERCC4

ERCC5

1.
Identifier
rs2227869
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
2.
Identifier
rs17655
In Other Studies (IDs)
1943
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
3.
Identifier
rs4150393
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
4.
Identifier
rs4150355
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
5.
Identifier
rs4150386
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
6.
Identifier
rs4150383
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
7.
Identifier
rs7325708
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
8.
Identifier
rs2296147
In Other Studies (IDs)
1930
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
9.
Identifier
rs4150351
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
10.
Identifier
rs3759500
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
11.
Identifier
rs876430
Cytogenetic Location
13q33.1
UCSC Genome Browser
View 13q33.1 on the UCSC genome browser
12.
Identifier
rs4150350
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

ERCC6

1.
Identifier
rs3793784
Cytogenetic Location
10q11.23
UCSC Genome Browser
View 10q11.23 on the UCSC genome browser
2.
Identifier
rs4253079
Cytogenetic Location
10q11.23
UCSC Genome Browser
View 10q11.23 on the UCSC genome browser
3.
Identifier
rs2228527
Cytogenetic Location
10q11.23
UCSC Genome Browser
View 10q11.23 on the UCSC genome browser
4.
Identifier
rs4253200
Cytogenetic Location
10q11.23
UCSC Genome Browser
View 10q11.23 on the UCSC genome browser
5.
Identifier
rs4253164
Cytogenetic Location
10q11.23
UCSC Genome Browser
View 10q11.23 on the UCSC genome browser
6.
Identifier
rs2228529
Cytogenetic Location
10q11.23
UCSC Genome Browser
View 10q11.23 on the UCSC genome browser
7.
Identifier
rs1964145
Cytogenetic Location
10q11.23
UCSC Genome Browser
View 10q11.23 on the UCSC genome browser
8.
Identifier
rs1018603
Cytogenetic Location
10q11.23
UCSC Genome Browser
View 10q11.23 on the UCSC genome browser
9.
Identifier
rs2228528
Cytogenetic Location
10q11.23
UCSC Genome Browser
View 10q11.23 on the UCSC genome browser
10.
Identifier
rs4838519
Cytogenetic Location
10q11.23
UCSC Genome Browser
View 10q11.23 on the UCSC genome browser
11.
Identifier
rs1012553
Cytogenetic Location
10q11.23
UCSC Genome Browser
View 10q11.23 on the UCSC genome browser

Gene details

HGNC symbol
ERCC6
Aliases
CSB; CKN2; COFS; ARMD5; COFS1; POF11; RAD26; UVSS1 
Common name
ERCC excision repair 6, chromatin remodeling factor 
Description
This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016]
Other longevity studies of this gene
10
OMIM
609413
Ensembl
ENSG00000225830
UniProt/Swiss-Prot
A8K4Q3_HUMAN
Entrez Gene
2074
UniGene
49063
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ercc6
Mus musculus
Ercc6
Rattus norvegicus
Ercc6
Saccharomyces cerevisiae
RAD26
Schizosaccharomyces pombe
rhp26

In other databases

GenAge human genes
  • This gene is present as ERCC6

ERCC8

1.
Identifier
rs1021005
Cytogenetic Location
5q12.1
UCSC Genome Browser
View 5q12.1 on the UCSC genome browser
2.
Identifier
rs7726671
Cytogenetic Location
5q12.1
UCSC Genome Browser
View 5q12.1 on the UCSC genome browser
3.
Identifier
rs17332991
Cytogenetic Location
5q12.1
UCSC Genome Browser
View 5q12.1 on the UCSC genome browser
4.
Identifier
rs158931
Cytogenetic Location
5q12.1
UCSC Genome Browser
View 5q12.1 on the UCSC genome browser
5.
Identifier
rs4647068
Cytogenetic Location
5q12.1
UCSC Genome Browser
View 5q12.1 on the UCSC genome browser
6.
Identifier
rs12522154
Cytogenetic Location
5q12.1
UCSC Genome Browser
View 5q12.1 on the UCSC genome browser
7.
Identifier
rs158937
Cytogenetic Location
5q12.1
UCSC Genome Browser
View 5q12.1 on the UCSC genome browser
8.
Identifier
rs2306350
Cytogenetic Location
5q12.1
UCSC Genome Browser
View 5q12.1 on the UCSC genome browser

Gene details

HGNC symbol
ERCC8
Aliases
CSA; CKN1; UVSS2 
Common name
ERCC excision repair 8, CSA ubiquitin ligase complex subunit 
Description
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]
Other longevity studies of this gene
7
OMIM
609412
Ensembl
ENSG00000049167
UniProt/Swiss-Prot
A0A0S2Z3L1_HUMAN
Entrez Gene
1161
UniGene
435237
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ercc8
Mus musculus
Ercc8
Rattus norvegicus
Ercc8
Schizosaccharomyces pombe
ckn1

In other databases

GenAge human genes
  • This gene is present as ERCC8

EXO1

1.
Identifier
rs735943
In Other Studies (IDs)
472
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
2.
Identifier
rs1776131
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
3.
Identifier
rs4149867
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
4.
Identifier
rs11581448
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
5.
Identifier
rs1047840
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
6.
Identifier
rs4150018
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
7.
Identifier
rs4150027
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
8.
Identifier
rs1635518
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
9.
Identifier
rs2797604
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
10.
Identifier
rs9350
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
11.
Identifier
rs12118937
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
12.
Identifier
rs4149855
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
13.
Identifier
rs4149965
In Other Studies (IDs)
475
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
14.
Identifier
rs12564134
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
15.
Identifier
rs4408133
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser
16.
Identifier
rs1776177
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser

Gene details

HGNC symbol
EXO1
Aliases
HEX1; hExoI 
Common name
exonuclease 1 
Description
This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
20
OMIM
606063
Ensembl
ENSG00000174371
UniProt/Swiss-Prot
A8K5H6_HUMAN
Entrez Gene
9156
UniGene
498248
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
exo-1
Danio rerio
exo1
Drosophila melanogaster
tos
Mus musculus
Exo1
Rattus norvegicus
Exo1

FANCA

1.
Identifier
rs7187436
Cytogenetic Location
16q24.3
UCSC Genome Browser
View 16q24.3 on the UCSC genome browser
2.
Identifier
rs7190823
Cytogenetic Location
16q24.3
UCSC Genome Browser
View 16q24.3 on the UCSC genome browser
3.
Identifier
rs1006548
Cytogenetic Location
16q24.3
UCSC Genome Browser
View 16q24.3 on the UCSC genome browser
4.
Identifier
rs3743860
Cytogenetic Location
16q24.3
UCSC Genome Browser
View 16q24.3 on the UCSC genome browser
5.
Identifier
rs12924101
Cytogenetic Location
16q24.3
UCSC Genome Browser
View 16q24.3 on the UCSC genome browser
6.
Identifier
rs1800339
Cytogenetic Location
16q24.3
UCSC Genome Browser
View 16q24.3 on the UCSC genome browser
7.
Identifier
rs16966142
Cytogenetic Location
16q24.3
UCSC Genome Browser
View 16q24.3 on the UCSC genome browser
8.
Identifier
rs9282681
Cytogenetic Location
16q24.3
UCSC Genome Browser
View 16q24.3 on the UCSC genome browser
9.
Identifier
rs17226075
Cytogenetic Location
16q24.3
UCSC Genome Browser
View 16q24.3 on the UCSC genome browser
10.
Identifier
rs8046872
Cytogenetic Location
16q24.3
UCSC Genome Browser
View 16q24.3 on the UCSC genome browser
11.
Identifier
rs2238526
Cytogenetic Location
16q24.3
UCSC Genome Browser
View 16q24.3 on the UCSC genome browser

Gene details

HGNC symbol
FANCA
Aliases
FA; FA1; FAA; FAH; FA-H; FACA; FANCH 
Common name
Fanconi anemia complementation group A 
Description
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
10
OMIM
607139
Ensembl
ENSG00000187741
UniProt/Swiss-Prot
FANCA_HUMAN
Entrez Gene
2175
UniGene
744083
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
uncharacterized_E7FC
Mus musculus
Fanca
Rattus norvegicus
Fanca

FANCD2

1.
Identifier
rs3172417
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser
2.
Identifier
rs6807485
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser
3.
Identifier
rs6792811
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser
4.
Identifier
rs803335
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser
5.
Identifier
rs9875081
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser
6.
Identifier
rs2075310
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser

Gene details

HGNC symbol
FANCD2
Aliases
FA4; FAD; FACD; FAD2; FA-D2; FANCD 
Common name
Fanconi anemia complementation group D2 
Description
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Other longevity studies of this gene
5
OMIM
613984
Ensembl
ENSG00000144554
UniProt/Swiss-Prot
A0A024R2G2_HUMAN
Entrez Gene
2177
UniGene
208388
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
fcd-2
Danio rerio
fancd2
Drosophila melanogaster
Fancd2
Mus musculus
Fancd2
Rattus norvegicus
Fancd2

FANCI

1.
Identifier
rs3087374
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser

Gene details

HGNC symbol
FANCI
Aliases
KIAA1794 
Common name
Fanconi anemia complementation group I 
Description
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
OMIM
611360
Ensembl
ENSG00000140525
UniProt/Swiss-Prot
B3KNW8_HUMAN
Entrez Gene
55215
UniGene
513126
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
fanci
Drosophila melanogaster
FANCI
Mus musculus
Fanci
Rattus norvegicus
Fanci

FEN1

1.
Identifier
rs695867
Cytogenetic Location
11q12.2
UCSC Genome Browser
View 11q12.2 on the UCSC genome browser
2.
Identifier
rs412334
Cytogenetic Location
11q12.2
UCSC Genome Browser
View 11q12.2 on the UCSC genome browser

Gene details

HGNC symbol
FEN1
Aliases
MF1; RAD2; FEN-1 
Common name
flap structure-specific endonuclease 1 
Description
The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5' end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
600393
Ensembl
ENSG00000168496
UniProt/Swiss-Prot
FEN1_HUMAN
Entrez Gene
2237
UniGene
409065
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
crn-1
Danio rerio
fen1
Drosophila melanogaster
Fen1
Mus musculus
Fen1
Rattus norvegicus
Fen1
Saccharomyces cerevisiae
RAD27
Schizosaccharomyces pombe
rad2

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as RAD27
GenAge human genes
  • This gene is present as FEN1

H2AFX

1.
Identifier
rs2509049
In Other Studies (IDs)
273
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser

Gene details

HGNC symbol
H2AFX
Aliases
H2AX; H2A.X; H2A/X 
Common name
H2A histone family member X 
Description
Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-independent histone that is a member of the histone H2A family, and generates two transcripts through the use of the conserved stem-loop termination motif, and the polyA addition motif. [provided by RefSeq, Oct 2015]
Other longevity studies of this gene
1
OMIM
601772
Ensembl
ENSG00000188486
UniProt/Swiss-Prot
H2AX_HUMAN
Entrez Gene
3014
UniGene
477879
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
his-35
Danio rerio
h2afx
Drosophila melanogaster
His2A:CG33856
Mus musculus
H2afx
Rattus norvegicus
H2afx

In other databases

GenAge human genes
  • This gene is present as H2AFX

HMBS

1.
Identifier
rs640603
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser

Gene details

HGNC symbol
HMBS
Aliases
UPS; PBGD; PORC; PBG-D 
Common name
hydroxymethylbilane synthase 
Description
This gene encodes a member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
OMIM
609806
Ensembl
ENSG00000256269
UniProt/Swiss-Prot
HEM3_HUMAN
Entrez Gene
3145
UniGene
82609
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
hmbsa
Mus musculus
Hmbs
Rattus norvegicus
Hmbs
Saccharomyces cerevisiae
HEM3
Schizosaccharomyces pombe
hem3

HMGB1

1.
Identifier
rs3742305
Cytogenetic Location
13q12.3
UCSC Genome Browser
View 13q12.3 on the UCSC genome browser

Gene details

HGNC symbol
HMGB1
Aliases
HMG1; HMG3; HMG-1; SBP-1 
Common name
high mobility group box 1 
Description
This gene encodes a protein that belongs to the High Mobility Group-box superfamily. The encoded non-histone, nuclear DNA-binding protein regulates transcription, and is involved in organization of DNA. This protein plays a role in several cellular processes, including inflammation, cell differentiation and tumor cell migration. Multiple pseudogenes of this gene have been identified. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2015]
OMIM
163905
Ensembl
ENSG00000189403
UniProt/Swiss-Prot
A0A024RDR0_HUMAN
Entrez Gene
3146
UniGene
434102
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Hmgb1
Rattus norvegicus
LOC685520

In other databases

GenAge human genes
  • This gene is present as HMGB1
CellAge
  • This gene is present as HMGB1

KARS

1.
Identifier
rs1865493
Cytogenetic Location
16q23.1
UCSC Genome Browser
View 16q23.1 on the UCSC genome browser

Gene details

HGNC symbol
KARS
Aliases
KRS; KARS1; KARS2; CMTRIB; DFNB89 
Common name
lysyl-tRNA synthetase 
Description
Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
OMIM
601421
Ensembl
ENSG00000065427
UniProt/Swiss-Prot
SYK_HUMAN
Entrez Gene
3735
UniGene
3100
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
krs-1
Danio rerio
kars
Drosophila melanogaster
Aats-lys
Mus musculus
Kars
Rattus norvegicus
Kars
Saccharomyces cerevisiae
KRS1
Schizosaccharomyces pombe
krs1

LIG1

1.
Identifier
rs274860
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser
2.
Identifier
rs2304136
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser
3.
Identifier
rs8100261
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser
4.
Identifier
rs7246512
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser
5.
Identifier
rs156640
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser
6.
Identifier
rs3731037
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser
7.
Identifier
rs156641
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser
8.
Identifier
rs20580
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser

Gene details

HGNC symbol
LIG1
Aliases
 
Common name
DNA ligase 1 
Description
This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Other longevity studies of this gene
7
OMIM
126391
Ensembl
ENSG00000105486
UniProt/Swiss-Prot
B4DM52_HUMAN
Entrez Gene
3978
UniGene
1770
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
lig-1
Danio rerio
si:dkeyp-35b8.5
Drosophila melanogaster
DNA-ligI
Mus musculus
Lig1
Rattus norvegicus
LOC100911727
Saccharomyces cerevisiae
CDC9
Schizosaccharomyces pombe
cdc17

LIG3

1.
Identifier
rs2074516
Cytogenetic Location
17q12
UCSC Genome Browser
View 17q12 on the UCSC genome browser
2.
Identifier
rs1052536
Cytogenetic Location
17q12
UCSC Genome Browser
View 17q12 on the UCSC genome browser
3.
Identifier
rs3135998
Cytogenetic Location
17q12
UCSC Genome Browser
View 17q12 on the UCSC genome browser
4.
Identifier
rs3135989
Cytogenetic Location
17q12
UCSC Genome Browser
View 17q12 on the UCSC genome browser

Gene details

HGNC symbol
LIG3
Aliases
LIG2 
Common name
DNA ligase 3 
Description
This gene is a member of the DNA ligase family. Each member of this family encodes a protein that catalyzes the joining of DNA ends but they each have a distinct role in DNA metabolism. The protein encoded by this gene is involved in excision repair and is located in both the mitochondria and nucleus, with translation initiation from the upstream start codon allowing for transport to the mitochondria and translation initiation from a downstream start codon allowing for transport to the nucleus. Additionally, alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
3
OMIM
600940
Ensembl
ENSG00000005156
UniProt/Swiss-Prot
DNLI3_HUMAN
Entrez Gene
3980
UniGene
100299
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
lig3
Drosophila melanogaster
lig3
Mus musculus
Lig3
Rattus norvegicus
Lig3

LIG4

1.
Identifier
rs3093748
Cytogenetic Location
13q33.3
UCSC Genome Browser
View 13q33.3 on the UCSC genome browser
2.
Identifier
rs1805386
Cytogenetic Location
13q33.3
UCSC Genome Browser
View 13q33.3 on the UCSC genome browser
3.
Identifier
rs3093772
Cytogenetic Location
13q33.3
UCSC Genome Browser
View 13q33.3 on the UCSC genome browser
4.
Identifier
rs1151402
Cytogenetic Location
13q33.3
UCSC Genome Browser
View 13q33.3 on the UCSC genome browser
5.
Identifier
rs10131
Cytogenetic Location
13q33.3
UCSC Genome Browser
View 13q33.3 on the UCSC genome browser
6.
Identifier
rs1805388
Cytogenetic Location
13q33.3
UCSC Genome Browser
View 13q33.3 on the UCSC genome browser

Gene details

HGNC symbol
LIG4
Aliases
LIG4S 
Common name
DNA ligase 4 
Description
The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
5
OMIM
601837
Ensembl
ENSG00000174405
UniProt/Swiss-Prot
A0A024RE06_HUMAN
Entrez Gene
3981
UniGene
166091
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
lig-4
Danio rerio
lig4
Drosophila melanogaster
Lig4
Mus musculus
Lig4
Rattus norvegicus
Lig4
Saccharomyces cerevisiae
DNL4
Schizosaccharomyces pombe
lig4

LOC105371093

1.
Identifier
rs1364362
Cytogenetic Location
16p13.12
UCSC Genome Browser
View 16p13.12 on the UCSC genome browser

Gene details

HGNC symbol
LOC105371093
Aliases
 
Common name
uncharacterized LOC105371093 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105371093
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LONP1

1.
Identifier
rs3892355
Cytogenetic Location
19p13.3
UCSC Genome Browser
View 19p13.3 on the UCSC genome browser
2.
Identifier
rs2436509
Cytogenetic Location
19p13.3
UCSC Genome Browser
View 19p13.3 on the UCSC genome browser
3.
Identifier
rs3818815
Cytogenetic Location
19p13.3
UCSC Genome Browser
View 19p13.3 on the UCSC genome browser
4.
Identifier
rs2436508
Cytogenetic Location
19p13.3
UCSC Genome Browser
View 19p13.3 on the UCSC genome browser
5.
Identifier
rs2436514
Cytogenetic Location
19p13.3
UCSC Genome Browser
View 19p13.3 on the UCSC genome browser

Gene details

HGNC symbol
LONP1
Aliases
LON; LONP; PIM1; hLON; LonHS; CODASS; PRSS15 
Common name
lon peptidase 1, mitochondrial 
Description
This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. Decreased expression of this gene has been noted in a patient with hereditary spastic paraplegia (PMID:18378094). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]
Other longevity studies of this gene
4
OMIM
605490
Ensembl
ENSG00000196365
UniProt/Swiss-Prot
LONM_HUMAN
Entrez Gene
9361
UniGene
350265
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
C34B2.6
Danio rerio
lonp1
Drosophila melanogaster
CG8798
Mus musculus
Lonp1
Rattus norvegicus
Lonp1
Saccharomyces cerevisiae
PIM1
Schizosaccharomyces pombe
pim1

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as PIM1
  • A homolog of this gene for Caenorhabditis elegans is present as C34B2.6

LRRC14

1.
Identifier
rs4244612
Cytogenetic Location
8q24.3
UCSC Genome Browser
View 8q24.3 on the UCSC genome browser

Gene details

HGNC symbol
LRRC14
Aliases
LRRC14A 
Common name
leucine rich repeat containing 14 
Description
This gene encodes a leucine-rich repeat-containing protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
OMIM
Ensembl
ENSG00000160959
UniProt/Swiss-Prot
LRC14_HUMAN
Entrez Gene
9684
UniGene
459391
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC569854
Mus musculus
Lrrc14
Rattus norvegicus
Lrrc14

MAN2C1

1.
Identifier
rs4462560
Cytogenetic Location
15q24.2
UCSC Genome Browser
View 15q24.2 on the UCSC genome browser

Gene details

HGNC symbol
MAN2C1
Aliases
MANA; MANA1; MAN6A8 
Common name
mannosidase alpha class 2C member 1 
Description
OMIM
154580
Ensembl
ENSG00000140400
UniProt/Swiss-Prot
A0A140VJN9_HUMAN
Entrez Gene
4123
UniGene
26232
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
uncharacterized_E7F9
Mus musculus
Man2c1
Rattus norvegicus
Man2c1
Saccharomyces cerevisiae
AMS1
Schizosaccharomyces pombe
ams1

MLH1

1.
Identifier
rs13320360
In Other Studies (IDs)
272
Cytogenetic Location
3p22.2
UCSC Genome Browser
View 3p22.2 on the UCSC genome browser
2.
Identifier
rs1799977
Cytogenetic Location
3p22.2
UCSC Genome Browser
View 3p22.2 on the UCSC genome browser
3.
Identifier
rs1540354
Cytogenetic Location
3p22.2
UCSC Genome Browser
View 3p22.2 on the UCSC genome browser
4.
Identifier
rs3774335
Cytogenetic Location
3p22.2
UCSC Genome Browser
View 3p22.2 on the UCSC genome browser
5.
Identifier
rs1800734
Cytogenetic Location
3p22.2
UCSC Genome Browser
View 3p22.2 on the UCSC genome browser

Gene details

HGNC symbol
MLH1
Aliases
FCC2; COCA2; HNPCC; hMLH1; HNPCC2 
Common name
mutL homolog 1 
Description
This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009]
Other longevity studies of this gene
8
OMIM
120436
Ensembl
ENSG00000076242
UniProt/Swiss-Prot
A0A024R2S9_HUMAN
Entrez Gene
4292
UniGene
195364
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
mlh-1
Danio rerio
mlh1
Drosophila melanogaster
Mlh1
Mus musculus
Mlh1
Rattus norvegicus
Mlh1
Saccharomyces cerevisiae
MLH1
Schizosaccharomyces pombe
mlh1

In other databases

GenAge human genes
  • This gene is present as MLH1

MLH3

1.
Identifier
rs175080
Cytogenetic Location
14q24.3
UCSC Genome Browser
View 14q24.3 on the UCSC genome browser
2.
Identifier
rs175076
Cytogenetic Location
14q24.3
UCSC Genome Browser
View 14q24.3 on the UCSC genome browser
3.
Identifier
rs7156586
Cytogenetic Location
14q24.3
UCSC Genome Browser
View 14q24.3 on the UCSC genome browser

Gene details

HGNC symbol
MLH3
Aliases
HNPCC7 
Common name
mutL homolog 3 
Description
This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
604395
Ensembl
ENSG00000119684
UniProt/Swiss-Prot
MLH3_HUMAN
Entrez Gene
27030
UniGene
436650
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
mlh3
Mus musculus
Mlh3
Rattus norvegicus
Mlh3
Saccharomyces cerevisiae
MLH3

MRE11

1.
Identifier
rs592068
Cytogenetic Location
11q21
UCSC Genome Browser
View 11q21 on the UCSC genome browser
2.
Identifier
rs569143
Cytogenetic Location
11q21
UCSC Genome Browser
View 11q21 on the UCSC genome browser
3.
Identifier
rs680695
Cytogenetic Location
11q21
UCSC Genome Browser
View 11q21 on the UCSC genome browser
4.
Identifier
rs533984
Cytogenetic Location
11q21
UCSC Genome Browser
View 11q21 on the UCSC genome browser
5.
Identifier
rs13447717
Cytogenetic Location
11q21
UCSC Genome Browser
View 11q21 on the UCSC genome browser
6.
Identifier
rs16920467
Cytogenetic Location
11q21
UCSC Genome Browser
View 11q21 on the UCSC genome browser
7.
Identifier
rs604845
Cytogenetic Location
11q21
UCSC Genome Browser
View 11q21 on the UCSC genome browser
8.
Identifier
rs13447720
Cytogenetic Location
11q21
UCSC Genome Browser
View 11q21 on the UCSC genome browser
9.
Identifier
rs500558
Cytogenetic Location
11q21
UCSC Genome Browser
View 11q21 on the UCSC genome browser
10.
Identifier
rs10831227
Cytogenetic Location
11q21
UCSC Genome Browser
View 11q21 on the UCSC genome browser
11.
Identifier
rs1805363
Cytogenetic Location
11q21
UCSC Genome Browser
View 11q21 on the UCSC genome browser
12.
Identifier
rs512150
Cytogenetic Location
11q21
UCSC Genome Browser
View 11q21 on the UCSC genome browser

Gene details

HGNC symbol
MRE11
Aliases
ATLD; HNGS1; MRE11A; MRE11B 
Common name
MRE11 homolog, double strand break repair nuclease 
Description
This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
11
OMIM
600814
Ensembl
ENSG00000020922
UniProt/Swiss-Prot
A0A024R395_HUMAN
Entrez Gene
4361
UniGene
192649
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
mre-11
Danio rerio
mre11a
Drosophila melanogaster
mre11
Mus musculus
Mre11a
Rattus norvegicus
Mre11a
Saccharomyces cerevisiae
MRE11
Schizosaccharomyces pombe
rad32

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as MRE11

MSH2

1.
Identifier
rs12999145
Cytogenetic Location
2p21-p16.3
UCSC Genome Browser
View 2p21-p16.3 on the UCSC genome browser
2.
Identifier
rs6753135
Cytogenetic Location
2p21-p16.3
UCSC Genome Browser
View 2p21-p16.3 on the UCSC genome browser
3.
Identifier
rs3732183
Cytogenetic Location
2p21-p16.3
UCSC Genome Browser
View 2p21-p16.3 on the UCSC genome browser
4.
Identifier
rs4638843
Cytogenetic Location
2p21-p16.3
UCSC Genome Browser
View 2p21-p16.3 on the UCSC genome browser
5.
Identifier
rs1981929
Cytogenetic Location
2p21-p16.3
UCSC Genome Browser
View 2p21-p16.3 on the UCSC genome browser
6.
Identifier
rs2347794
Cytogenetic Location
2p21-p16.3
UCSC Genome Browser
View 2p21-p16.3 on the UCSC genome browser
7.
Identifier
rs6741393
Cytogenetic Location
2p21-p16.3
UCSC Genome Browser
View 2p21-p16.3 on the UCSC genome browser
8.
Identifier
rs17036577
Cytogenetic Location
2p21-p16.3
UCSC Genome Browser
View 2p21-p16.3 on the UCSC genome browser
9.
Identifier
rs4952887
Cytogenetic Location
2p21-p16.3
UCSC Genome Browser
View 2p21-p16.3 on the UCSC genome browser
10.
Identifier
rs10183143
Cytogenetic Location
2p21-p16.3
UCSC Genome Browser
View 2p21-p16.3 on the UCSC genome browser
11.
Identifier
rs1863332
Cytogenetic Location
2p21-p16.3
UCSC Genome Browser
View 2p21-p16.3 on the UCSC genome browser

Gene details

HGNC symbol
MSH2
Aliases
FCC1; COCA1; HNPCC; LCFS2; HNPCC1 
Common name
mutS homolog 2 
Description
This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
Other longevity studies of this gene
10
OMIM
609309
Ensembl
ENSG00000095002
UniProt/Swiss-Prot
MSH2_HUMAN
Entrez Gene
4436
UniGene
597656
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
msh-2
Danio rerio
msh2
Drosophila melanogaster
spel1
Mus musculus
Msh2
Rattus norvegicus
Msh2
Saccharomyces cerevisiae
MSH2
Schizosaccharomyces pombe
msh2

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Msh2
  • A homolog of this gene for Saccharomyces cerevisiae is present as MSH2

MSH3

1.
Identifier
rs6151792
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
2.
Identifier
rs6151816
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
3.
Identifier
rs184967
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
4.
Identifier
rs245378
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
5.
Identifier
rs1650737
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
6.
Identifier
rs181747
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
7.
Identifier
rs6151735
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
8.
Identifier
rs1677645
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
9.
Identifier
rs6151616
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
10.
Identifier
rs26279
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
11.
Identifier
rs245397
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
12.
Identifier
rs17206221
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
13.
Identifier
rs26784
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
14.
Identifier
rs1650649
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
15.
Identifier
rs249633
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
16.
Identifier
rs7712332
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
17.
Identifier
rs40139
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
18.
Identifier
rs245011
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
19.
Identifier
rs6151627
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
20.
Identifier
rs1979005
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
21.
Identifier
rs397628
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
22.
Identifier
rs27385
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
23.
Identifier
rs12522474
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
24.
Identifier
rs10075024
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser
25.
Identifier
rs33003
Cytogenetic Location
5q14.1
UCSC Genome Browser
View 5q14.1 on the UCSC genome browser

Gene details

HGNC symbol
MSH3
Aliases
DUP; FAP4; MRP1 
Common name
mutS homolog 3 
Description
The protein encoded by this gene forms a heterodimer with MSH2 to form MutS beta, part of the post-replicative DNA mismatch repair system. MutS beta initiates mismatch repair by binding to a mismatch and then forming a complex with MutL alpha heterodimer. This gene contains a polymorphic 9 bp tandem repeat sequence in the first exon. The repeat is present 6 times in the reference genome sequence and 3-7 repeats have been reported. Defects in this gene are a cause of susceptibility to endometrial cancer. [provided by RefSeq, Mar 2011]
Other longevity studies of this gene
24
OMIM
600887
Ensembl
ENSG00000113318
UniProt/Swiss-Prot
MSH3_HUMAN
Entrez Gene
4437
UniGene
280987
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
msh3
Mus musculus
Msh3
Rattus norvegicus
Msh3
Saccharomyces cerevisiae
MSH3
Schizosaccharomyces pombe
msh3

MSH6

1.
Identifier
rs2348244
Cytogenetic Location
2p16.3
UCSC Genome Browser
View 2p16.3 on the UCSC genome browser
2.
Identifier
rs2020911
Cytogenetic Location
2p16.3
UCSC Genome Browser
View 2p16.3 on the UCSC genome browser
3.
Identifier
rs3136245
Cytogenetic Location
2p16.3
UCSC Genome Browser
View 2p16.3 on the UCSC genome browser
4.
Identifier
rs3136228
Cytogenetic Location
2p16.3
UCSC Genome Browser
View 2p16.3 on the UCSC genome browser
5.
Identifier
rs3136284
Cytogenetic Location
2p16.3
UCSC Genome Browser
View 2p16.3 on the UCSC genome browser
6.
Identifier
rs3136367
Cytogenetic Location
2p16.3
UCSC Genome Browser
View 2p16.3 on the UCSC genome browser
7.
Identifier
rs330792
Cytogenetic Location
2p16.3
UCSC Genome Browser
View 2p16.3 on the UCSC genome browser
8.
Identifier
rs3136329
Cytogenetic Location
2p16.3
UCSC Genome Browser
View 2p16.3 on the UCSC genome browser
9.
Identifier
rs3136337
Cytogenetic Location
2p16.3
UCSC Genome Browser
View 2p16.3 on the UCSC genome browser

Gene details

HGNC symbol
MSH6
Aliases
GTBP; HSAP; p160; GTMBP; HNPCC5 
Common name
mutS homolog 6 
Description
This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
Other longevity studies of this gene
8
OMIM
600678
Ensembl
ENSG00000116062
UniProt/Swiss-Prot
MSH6_HUMAN
Entrez Gene
2956
UniGene
445052
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
msh-6
Danio rerio
msh6
Drosophila melanogaster
Msh6
Mus musculus
Msh6
Rattus norvegicus
Msh6
Saccharomyces cerevisiae
MSH6
Schizosaccharomyces pombe
msh6

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as MSH6

NBN

1.
Identifier
rs1805794
In Other Studies (IDs)
1961
Cytogenetic Location
8q21.3
UCSC Genome Browser
View 8q21.3 on the UCSC genome browser
2.
Identifier
rs1805810
Cytogenetic Location
8q21.3
UCSC Genome Browser
View 8q21.3 on the UCSC genome browser
3.
Identifier
rs6470522
Cytogenetic Location
8q21.3
UCSC Genome Browser
View 8q21.3 on the UCSC genome browser
4.
Identifier
rs1235369
Cytogenetic Location
8q21.3
UCSC Genome Browser
View 8q21.3 on the UCSC genome browser
5.
Identifier
rs2735385
Cytogenetic Location
8q21.3
UCSC Genome Browser
View 8q21.3 on the UCSC genome browser
6.
Identifier
rs6999227
Cytogenetic Location
8q21.3
UCSC Genome Browser
View 8q21.3 on the UCSC genome browser
7.
Identifier
rs7010210
Cytogenetic Location
8q21.3
UCSC Genome Browser
View 8q21.3 on the UCSC genome browser
8.
Identifier
rs1805812
Cytogenetic Location
8q21.3
UCSC Genome Browser
View 8q21.3 on the UCSC genome browser
9.
Identifier
rs13312954
Cytogenetic Location
8q21.3
UCSC Genome Browser
View 8q21.3 on the UCSC genome browser
10.
Identifier
rs3026271
Cytogenetic Location
8q21.3
UCSC Genome Browser
View 8q21.3 on the UCSC genome browser
11.
Identifier
rs12680687
In Other Studies (IDs)
1953
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

NEIL2

1.
Identifier
rs1043180
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser
2.
Identifier
rs4840583
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser
3.
Identifier
rs904009
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser
4.
Identifier
rs8191534
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser
5.
Identifier
rs8191529
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser
6.
Identifier
rs804269
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser
7.
Identifier
rs8191605
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser
8.
Identifier
rs1874546
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser
9.
Identifier
rs2686211
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser
10.
Identifier
rs8191542
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser
11.
Identifier
rs8191663
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser
12.
Identifier
rs4841593
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser
13.
Identifier
rs8191589
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser

Gene details

HGNC symbol
NEIL2
Aliases
NEH2; NEI2 
Common name
nei like DNA glycosylase 2 
Description
This gene encodes a member of the Fpg/Nei family of DNA glycosylases. These glycosylases initiate the first step in base excision repair by cleaving oxidatively damaged bases and introducing a DNA strand break via their abasic site lyase activity. This enzyme is primarily associated with DNA repair during transcription and acts prefentially on cytosine-derived lesions, particularly 5-hydroxyuracil and 5-hydroxycytosine. It contains an N-terminal catalytic domain, a hinge region, and a C-terminal DNA-binding domain with helix-two-turn-helix and zinc finger motifs. This enzyme interacts with the X-ray cross complementing factor 1 scaffold protein as part of a multi-protein DNA repair complex. A pseudogene of this gene has been identified. [provided by RefSeq, Mar 2017]
Other longevity studies of this gene
12
OMIM
608933
Ensembl
ENSG00000154328
UniProt/Swiss-Prot
A0A024R361_HUMAN
Entrez Gene
252969
UniGene
293818
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Neil2
Rattus norvegicus
Neil2

OGG1

1.
Identifier
rs3218997
Cytogenetic Location
3p25.3
UCSC Genome Browser
View 3p25.3 on the UCSC genome browser
2.
Identifier
rs2472037
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

PARP1

1.
Identifier
rs3219142
In Other Studies (IDs)
854
Cytogenetic Location
1q42.12
UCSC Genome Browser
View 1q42.12 on the UCSC genome browser
2.
Identifier
rs3219110
Cytogenetic Location
1q42.12
UCSC Genome Browser
View 1q42.12 on the UCSC genome browser
3.
Identifier
rs2271347
Cytogenetic Location
1q42.12
UCSC Genome Browser
View 1q42.12 on the UCSC genome browser
4.
Identifier
rs7542788
Cytogenetic Location
1q42.12
UCSC Genome Browser
View 1q42.12 on the UCSC genome browser
5.
Identifier
rs1805401
Cytogenetic Location
1q42.12
UCSC Genome Browser
View 1q42.12 on the UCSC genome browser
6.
Identifier
rs1805414
Cytogenetic Location
1q42.12
UCSC Genome Browser
View 1q42.12 on the UCSC genome browser
7.
Identifier
rs1805410
Cytogenetic Location
1q42.12
UCSC Genome Browser
View 1q42.12 on the UCSC genome browser
8.
Identifier
rs1136410
In Other Studies (IDs)
2049
Cytogenetic Location
1q42.12
UCSC Genome Browser
View 1q42.12 on the UCSC genome browser

Gene details

HGNC symbol
PARP1
Aliases
PARP; PPOL; ADPRT; ARTD1; ADPRT1; PARP-1; ADPRT; 1; pADPRT-1 
Common name
poly(ADP-ribose) polymerase 1 
Description
This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
15
OMIM
173870
Ensembl
ENSG00000143799
UniProt/Swiss-Prot
A0A024R3T8_HUMAN
Entrez Gene
142
UniGene
177766
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
pme-1
Danio rerio
parp1
Drosophila melanogaster
Parp
Mus musculus
Parp1
Rattus norvegicus
Parp1

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as pme-1
GenAge human genes
  • This gene is present as PARP1

PCNA

1.
Identifier
rs8125170
Cytogenetic Location
20p12.3
UCSC Genome Browser
View 20p12.3 on the UCSC genome browser
2.
Identifier
rs17349
Cytogenetic Location
20p12.3
UCSC Genome Browser
View 20p12.3 on the UCSC genome browser
3.
Identifier
rs25406
Cytogenetic Location
20p12.3
UCSC Genome Browser
View 20p12.3 on the UCSC genome browser

Gene details

HGNC symbol
PCNA
Aliases
ATLD2 
Common name
proliferating cell nuclear antigen 
Description
The protein encoded by this gene is found in the nucleus and is a cofactor of DNA polymerase delta. The encoded protein acts as a homotrimer and helps increase the processivity of leading strand synthesis during DNA replication. In response to DNA damage, this protein is ubiquitinated and is involved in the RAD6-dependent DNA repair pathway. Two transcript variants encoding the same protein have been found for this gene. Pseudogenes of this gene have been described on chromosome 4 and on the X chromosome. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
2
OMIM
176740
Ensembl
ENSG00000132646
UniProt/Swiss-Prot
PCNA_HUMAN
Entrez Gene
5111
UniGene
147433
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
pcn-1
Danio rerio
pcna
Drosophila melanogaster
mus209
Mus musculus
Pcna-ps2
Rattus norvegicus
Pcna
Saccharomyces cerevisiae
POL30
Schizosaccharomyces pombe
pcn1

In other databases

GenAge human genes
  • This gene is present as PCNA

PIF1

1.
Identifier
rs3743046
Cytogenetic Location
15q22.31
UCSC Genome Browser
View 15q22.31 on the UCSC genome browser
2.
Identifier
rs17802279
Cytogenetic Location
15q22.31
UCSC Genome Browser
View 15q22.31 on the UCSC genome browser
3.
Identifier
rs11631663
Cytogenetic Location
15q22.31
UCSC Genome Browser
View 15q22.31 on the UCSC genome browser

Gene details

HGNC symbol
PIF1
Aliases
PIF; C15orf20 
Common name
PIF1 5'-to-3' DNA helicase 
Description
This gene encodes a DNA-dependent adenosine triphosphate (ATP)-metabolizing enzyme that functions as a 5' to 3' DNA helicase. The encoded protein can resolve G-quadruplex structures and RNA-DNA hybrids at the ends of chromosomes. It also prevents telomere elongation by inhibiting the actions of telomerase. Alternative splicing and the use of alternative start codons results in multiple isoforms that are differentially localized to either the mitochondria or the nucleus. [provided by RefSeq, Nov 2013]
Other longevity studies of this gene
2
OMIM
610953
Ensembl
ENSG00000140451
UniProt/Swiss-Prot
PIF1_HUMAN
Entrez Gene
80119
UniGene
112160
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
pif-1
Danio rerio
pif1
Drosophila melanogaster
CG3238
Mus musculus
Pif1
Rattus norvegicus
Pif1
Saccharomyces cerevisiae
PIF1
Schizosaccharomyces pombe
pif1

PINLYP

1.
Identifier
rs2682585
Cytogenetic Location
19q13.31
UCSC Genome Browser
View 19q13.31 on the UCSC genome browser
2.
Identifier
rs2682587
Cytogenetic Location
19q13.31
UCSC Genome Browser
View 19q13.31 on the UCSC genome browser

Gene details

HGNC symbol
PINLYP
Aliases
 
Common name
phospholipase A2 inhibitor and LY6/PLAUR domain containing 
Description
Other longevity studies of this gene
1
OMIM
Ensembl
ENSG00000234465
UniProt/Swiss-Prot
PINLY_HUMAN
Entrez Gene
390940
UniGene
22049
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
BX005256.5
Mus musculus
Pinlyp
Rattus norvegicus
Pinlyp

PMS1

1.
Identifier
rs256552
Cytogenetic Location
2q32.2
UCSC Genome Browser
View 2q32.2 on the UCSC genome browser
2.
Identifier
rs1233284
Cytogenetic Location
2q32.2
UCSC Genome Browser
View 2q32.2 on the UCSC genome browser
3.
Identifier
rs1233255
Cytogenetic Location
2q32.2
UCSC Genome Browser
View 2q32.2 on the UCSC genome browser
4.
Identifier
rs1233258
Cytogenetic Location
2q32.2
UCSC Genome Browser
View 2q32.2 on the UCSC genome browser
5.
Identifier
rs5743100
Cytogenetic Location
2q32.2
UCSC Genome Browser
View 2q32.2 on the UCSC genome browser
6.
Identifier
rs17806132
Cytogenetic Location
2q32.2
UCSC Genome Browser
View 2q32.2 on the UCSC genome browser

Gene details

HGNC symbol
PMS1
Aliases
MLH2; PMSL1; hPMS1; HNPCC3 
Common name
PMS1 homolog 1, mismatch repair system component 
Description
This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
5
OMIM
600258
Ensembl
ENSG00000064933
UniProt/Swiss-Prot
B4DIH7_HUMAN
Entrez Gene
5378
UniGene
111749
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
pms1
Mus musculus
Pms1
Rattus norvegicus
Pms1

PMS2

1.
Identifier
rs2286680
Cytogenetic Location
7p22.1
UCSC Genome Browser
View 7p22.1 on the UCSC genome browser
2.
Identifier
rs7811924
Cytogenetic Location
7p22.1
UCSC Genome Browser
View 7p22.1 on the UCSC genome browser
3.
Identifier
rs12112229
Cytogenetic Location
7p22.1
UCSC Genome Browser
View 7p22.1 on the UCSC genome browser
4.
Identifier
rs2345060
Cytogenetic Location
7p22.1
UCSC Genome Browser
View 7p22.1 on the UCSC genome browser
5.
Identifier
rs11769380
Cytogenetic Location
7p22.1
UCSC Genome Browser
View 7p22.1 on the UCSC genome browser

Gene details

HGNC symbol
PMS2
Aliases
MLH4; PMSL2; HNPCC4; PMS2CL 
Common name
PMS1 homolog 2, mismatch repair system component 
Description
The protein encoded by this gene is a key component of the mismatch repair system that functions to correct DNA mismatches and small insertions and deletions that can occur during DNA replication and homologous recombination. This protein forms heterodimers with the gene product of the mutL homolog 1 (MLH1) gene to form the MutL-alpha heterodimer. The MutL-alpha heterodimer possesses an endonucleolytic activity that is activated following recognition of mismatches and insertion/deletion loops by the MutS-alpha and MutS-beta heterodimers, and is necessary for removal of the mismatched DNA. There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. [provided by RefSeq, Apr 2016]
Other longevity studies of this gene
5
OMIM
600259
Ensembl
ENSG00000122512
UniProt/Swiss-Prot
B4DGM0_HUMAN
Entrez Gene
5395
UniGene
632637
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
pms-2
Danio rerio
pms2
Drosophila melanogaster
Pms2
Mus musculus
Pms2
Rattus norvegicus
Pms2
Saccharomyces cerevisiae
PMS1
Schizosaccharomyces pombe
pms1

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as PMS1

PNKP

1.
Identifier
rs2257103
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser

Gene details

HGNC symbol
PNKP
Aliases
PNK; AOA4; MCSZ; EIEE10 
Common name
polynucleotide kinase 3'-phosphatase 
Description
This locus represents a gene involved in DNA repair. In response to ionizing radiation or oxidative damage, the protein encoded by this locus catalyzes 5' phosphorylation and 3' dephosphorylation of nucleic acids. Mutations at this locus have been associated with microcephaly, seizures, and developmental delay.[provided by RefSeq, Sep 2010]
OMIM
605610
Ensembl
ENSG00000039650
UniProt/Swiss-Prot
PNKP_HUMAN
Entrez Gene
11284
UniGene
78016
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
F21D5.5
Danio rerio
pnkp
Drosophila melanogaster
CG9601-RA
Mus musculus
Pnkp
Rattus norvegicus
Pnkp
Schizosaccharomyces pombe
pnk1

POLB

1.
Identifier
rs3136717
Cytogenetic Location
8p11.21
UCSC Genome Browser
View 8p11.21 on the UCSC genome browser
2.
Identifier
rs3136797
Cytogenetic Location
8p11.21
UCSC Genome Browser
View 8p11.21 on the UCSC genome browser
3.
Identifier
rs2953983
In Other Studies (IDs)
267
Cytogenetic Location
8p11.21
UCSC Genome Browser
View 8p11.21 on the UCSC genome browser

Gene details

HGNC symbol
POLB
Aliases
 
Common name
DNA polymerase beta 
Description
The protein encoded by this gene is a DNA polymerase involved in base excision and repair, also called gap-filling DNA synthesis. The encoded protein, acting as a monomer, is normally found in the cytoplasm, but it translocates to the nucleus upon DNA damage. Several transcript variants of this gene exist, but the full-length nature of only one has been described to date. [provided by RefSeq, Sep 2011]
Other longevity studies of this gene
3
OMIM
174760
Ensembl
ENSG00000070501
UniProt/Swiss-Prot
B7Z1W5_HUMAN
Entrez Gene
5423
UniGene
654484
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
polb
Mus musculus
Polb
Rattus norvegicus
Polb
Saccharomyces cerevisiae
POL4

In other databases

GenAge human genes
  • This gene is present as POLB

POLD1

1.
Identifier
rs2546551
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser
2.
Identifier
rs1673041
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser
3.
Identifier
rs3219337
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser
4.
Identifier
rs1673026
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser
5.
Identifier
rs3219281
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser

Gene details

HGNC symbol
POLD1
Aliases
CDC2; MDPL; POLD; CRCS10 
Common name
DNA polymerase delta 1, catalytic subunit 
Description
This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]
Other longevity studies of this gene
4
OMIM
174761
Ensembl
ENSG00000062822
UniProt/Swiss-Prot
A0A024R4F4_HUMAN
Entrez Gene
5424
UniGene
279413
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
F10C2.4
Danio rerio
pold1
Drosophila melanogaster
DNApol-delta
Mus musculus
Pold1
Rattus norvegicus
Pold1
Saccharomyces cerevisiae
POL3
Schizosaccharomyces pombe
pol3

In other databases

GenAge human genes
  • This gene is present as POLD1

POLE

1.
Identifier
rs5744897
Cytogenetic Location
12q24.33
UCSC Genome Browser
View 12q24.33 on the UCSC genome browser
2.
Identifier
rs5744934
Cytogenetic Location
12q24.33
UCSC Genome Browser
View 12q24.33 on the UCSC genome browser
3.
Identifier
rs4883617
Cytogenetic Location
12q24.33
UCSC Genome Browser
View 12q24.33 on the UCSC genome browser
4.
Identifier
rs5744941
Cytogenetic Location
12q24.33
UCSC Genome Browser
View 12q24.33 on the UCSC genome browser
5.
Identifier
rs5744807
Cytogenetic Location
12q24.33
UCSC Genome Browser
View 12q24.33 on the UCSC genome browser
6.
Identifier
rs4883539
Cytogenetic Location
12q24.33
UCSC Genome Browser
View 12q24.33 on the UCSC genome browser
7.
Identifier
rs5744761
Cytogenetic Location
12q24.33
UCSC Genome Browser
View 12q24.33 on the UCSC genome browser
8.
Identifier
rs5744990
Cytogenetic Location
12q24.33
UCSC Genome Browser
View 12q24.33 on the UCSC genome browser
9.
Identifier
rs5745066
Cytogenetic Location
12q24.33
UCSC Genome Browser
View 12q24.33 on the UCSC genome browser
10.
Identifier
rs5744873
Cytogenetic Location
12q24.33
UCSC Genome Browser
View 12q24.33 on the UCSC genome browser

Gene details

HGNC symbol
POLE
Aliases
FILS; POLE1; CRCS12 
Common name
DNA polymerase epsilon, catalytic subunit 
Description
This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]
Other longevity studies of this gene
9
OMIM
174762
Ensembl
ENSG00000177084
UniProt/Swiss-Prot
DPOE1_HUMAN
Entrez Gene
5426
UniGene
524871
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_F33H2.5
Danio rerio
pole
Drosophila melanogaster
DNApol-epsilon
Mus musculus
Pole
Rattus norvegicus
Pole
Saccharomyces cerevisiae
POL2
Schizosaccharomyces pombe
pol2

POLG

1.
Identifier
rs2074885
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
2.
Identifier
rs2351000
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
3.
Identifier
rs3176208
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
4.
Identifier
rs2072266
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser
5.
Identifier
rs3176205
Cytogenetic Location
15q26.1
UCSC Genome Browser
View 15q26.1 on the UCSC genome browser

Gene details

HGNC symbol
POLG
Aliases
PEO; MDP1; SCAE; MIRAS; POLG1; POLGA; SANDO; MTDPS4A; MTDPS4B 
Common name
DNA polymerase gamma, catalytic subunit 
Description
Mitochondrial DNA polymerase is heterotrimeric, consisting of a homodimer of accessory subunits plus a catalytic subunit. The protein encoded by this gene is the catalytic subunit of mitochondrial DNA polymerase. The encoded protein contains a polyglutamine tract near its N-terminus that may be polymorphic. Defects in this gene are a cause of progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1), sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO), Alpers-Huttenlocher syndrome (AHS), and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
4
OMIM
174763
Ensembl
ENSG00000140521
UniProt/Swiss-Prot
DPOG1_HUMAN
Entrez Gene
5428
UniGene
706868
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
polg-1
Danio rerio
polg
Drosophila melanogaster
tam
Mus musculus
Polg
Rattus norvegicus
Polg
Saccharomyces cerevisiae
MIP1

In other databases

GenAge human genes
  • This gene is present as POLG

POLRMT

1.
Identifier
rs9304924
Cytogenetic Location
19p13.3
UCSC Genome Browser
View 19p13.3 on the UCSC genome browser
2.
Identifier
rs2283575
Cytogenetic Location
19p13.3
UCSC Genome Browser
View 19p13.3 on the UCSC genome browser

Gene details

HGNC symbol
POLRMT
Aliases
APOLMT; MTRNAP; MTRPOL; h-mtRPOL 
Common name
RNA polymerase mitochondrial 
Description
This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
601778
Ensembl
ENSG00000099821
UniProt/Swiss-Prot
Q4G0F4_HUMAN
Entrez Gene
5442
UniGene
254113
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
si:dkey-21e2.1
Drosophila melanogaster
mtRNApol
Mus musculus
Polrmt
Rattus norvegicus
Polrmt
Schizosaccharomyces pombe
rpo41

POT1

1.
Identifier
rs929365
Cytogenetic Location
7q31.33
UCSC Genome Browser
View 7q31.33 on the UCSC genome browser
2.
Identifier
rs10228682
Cytogenetic Location
7q31.33
UCSC Genome Browser
View 7q31.33 on the UCSC genome browser
3.
Identifier
rs10271646
Cytogenetic Location
7q31.33
UCSC Genome Browser
View 7q31.33 on the UCSC genome browser
4.
Identifier
rs11972248
Cytogenetic Location
7q31.33
UCSC Genome Browser
View 7q31.33 on the UCSC genome browser
5.
Identifier
rs11768553
Cytogenetic Location
7q31.33
UCSC Genome Browser
View 7q31.33 on the UCSC genome browser

Gene details

HGNC symbol
POT1
Aliases
GLM9; CMM10; HPOT1 
Common name
protection of telomeres 1 
Description
This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
5
OMIM
606478
Ensembl
ENSG00000128513
UniProt/Swiss-Prot
A0A024R739_HUMAN
Entrez Gene
25913
UniGene
31968
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
pot1
Mus musculus
Pot1
Rattus norvegicus
Pot1b
Schizosaccharomyces pombe
pot1

In other databases

CellAge
  • This gene is present as POT1

PPIH

1.
Identifier
rs7556150
Cytogenetic Location
1p34.2
UCSC Genome Browser
View 1p34.2 on the UCSC genome browser

Gene details

HGNC symbol
PPIH
Aliases
CYPH; CYP-20; USA-CYP; SnuCyp-20 
Common name
peptidylprolyl isomerase H 
Description
The protein encoded by this gene is a member of the peptidyl-prolyl cis-trans isomerase (PPIase) family. PPIases catalyze the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and accelerate the folding of proteins. This protein is a specific component of the complex that includes pre-mRNA processing factors PRPF3, PRPF4, and PRPF18, as well as U4/U5/U6 tri-snRNP. This protein has been shown to possess PPIase activity and may act as a protein chaperone that mediates the interactions between different proteins inside the spliceosome. [provided by RefSeq, Jul 2008]
OMIM
606095
Ensembl
ENSG00000171960
UniProt/Swiss-Prot
PPIH_HUMAN
Entrez Gene
10465
UniGene
256639
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
cyn-11
Danio rerio
ppih
Drosophila melanogaster
CG17266
Mus musculus
Ppih
Rattus norvegicus
Ppih
Schizosaccharomyces pombe
cyp3

PRKDC

1.
Identifier
rs10109984
Cytogenetic Location
8q11.21
UCSC Genome Browser
View 8q11.21 on the UCSC genome browser
2.
Identifier
rs4873772
Cytogenetic Location
8q11.21
UCSC Genome Browser
View 8q11.21 on the UCSC genome browser
3.
Identifier
rs2213178
Cytogenetic Location
8q11.21
UCSC Genome Browser
View 8q11.21 on the UCSC genome browser
4.
Identifier
rs8178068
Cytogenetic Location
8q11.21
UCSC Genome Browser
View 8q11.21 on the UCSC genome browser
5.
Identifier
rs4278157
Cytogenetic Location
8q11.21
UCSC Genome Browser
View 8q11.21 on the UCSC genome browser
6.
Identifier
rs4521758
Cytogenetic Location
8q11.21
UCSC Genome Browser
View 8q11.21 on the UCSC genome browser
7.
Identifier
rs8178179
Cytogenetic Location
8q11.21
UCSC Genome Browser
View 8q11.21 on the UCSC genome browser
8.
Identifier
rs7003908
Cytogenetic Location
8q11.21
UCSC Genome Browser
View 8q11.21 on the UCSC genome browser
9.
Identifier
rs8178017
Cytogenetic Location
8q11.21
UCSC Genome Browser
View 8q11.21 on the UCSC genome browser
10.
Identifier
rs8178071
Cytogenetic Location
8q11.21
UCSC Genome Browser
View 8q11.21 on the UCSC genome browser

Gene details

HGNC symbol
PRKDC
Aliases
HYRC; p350; DNAPK; DNPK1; HYRC1; IMD26; XRCC7; DNA-PKcs 
Common name
protein kinase, DNA-activated, catalytic polypeptide 
Description
This gene encodes the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). It functions with the Ku70/Ku80 heterodimer protein in DNA double strand break repair and recombination. The protein encoded is a member of the PI3/PI4-kinase family.[provided by RefSeq, Jul 2010]
Other longevity studies of this gene
9
OMIM
600899
Ensembl
ENSG00000253729
UniProt/Swiss-Prot
PRKDC_HUMAN
Entrez Gene
5591
UniGene
491682
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
wu:fa96e12
Mus musculus
Prkdc
Rattus norvegicus
Prkdc

In other databases

GenAge human genes
  • This gene is present as PRKDC

RAD23B

1.
Identifier
rs1805329
In Other Studies (IDs)
265
Cytogenetic Location
9q31.2
UCSC Genome Browser
View 9q31.2 on the UCSC genome browser
2.
Identifier
rs7030169
Cytogenetic Location
9q31.2
UCSC Genome Browser
View 9q31.2 on the UCSC genome browser
3.
Identifier
rs1323808
Cytogenetic Location
9q31.2
UCSC Genome Browser
View 9q31.2 on the UCSC genome browser
4.
Identifier
rs7023656
Cytogenetic Location
9q31.2
UCSC Genome Browser
View 9q31.2 on the UCSC genome browser
5.
Identifier
rs4978820
Cytogenetic Location
9q31.2
UCSC Genome Browser
View 9q31.2 on the UCSC genome browser
6.
Identifier
rs13299620
Cytogenetic Location
9q31.2
UCSC Genome Browser
View 9q31.2 on the UCSC genome browser
7.
Identifier
rs11573631
Cytogenetic Location
9q31.2
UCSC Genome Browser
View 9q31.2 on the UCSC genome browser
8.
Identifier
rs10816492
Cytogenetic Location
9q31.2
UCSC Genome Browser
View 9q31.2 on the UCSC genome browser
9.
Identifier
rs10978792
Cytogenetic Location
9q31.2
UCSC Genome Browser
View 9q31.2 on the UCSC genome browser
10.
Identifier
rs11573711
Cytogenetic Location
9q31.2
UCSC Genome Browser
View 9q31.2 on the UCSC genome browser
11.
Identifier
rs10739239
Cytogenetic Location
9q31.2
UCSC Genome Browser
View 9q31.2 on the UCSC genome browser
12.
Identifier
rs1805330
Cytogenetic Location
9q31.2
UCSC Genome Browser
View 9q31.2 on the UCSC genome browser
13.
Identifier
rs11573709
Cytogenetic Location
9q31.2
UCSC Genome Browser
View 9q31.2 on the UCSC genome browser

Gene details

HGNC symbol
RAD23B
Aliases
P58; HR23B; HHR23B 
Common name
RAD23 homolog B, nucleotide excision repair protein 
Description
The protein encoded by this gene is one of two human homologs of Saccharomyces cerevisiae Rad23, a protein involved in the nucleotide excision repair (NER). This protein was found to be a component of the protein complex that specifically complements the NER defect of xeroderma pigmentosum group C (XP-c) cell extracts in vitro. This protein was also shown to interact with, and elevate the nucleotide excision activity of 3-methyladenine-DNA glycosylase (MPG), which suggested a role in DNA damage recognition in base excision repair. This protein contains an N-terminal ubiquitin-like domain, which was reported to interact with 26S proteasome, and thus this protein may be involved in the ubiquitin mediated proteolytic pathway in cells. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Sep 2011]
Other longevity studies of this gene
13
OMIM
600062
Ensembl
ENSG00000119318
UniProt/Swiss-Prot
B7Z4W4_HUMAN
Entrez Gene
5887
UniGene
521640
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
rad23b
Mus musculus
Rad23b
Rattus norvegicus
Rad23b

RAD50

1.
Identifier
rs2706370
Cytogenetic Location
5q31.1
UCSC Genome Browser
View 5q31.1 on the UCSC genome browser
2.
Identifier
rs2237060
Cytogenetic Location
5q31.1
UCSC Genome Browser
View 5q31.1 on the UCSC genome browser
3.
Identifier
rs17772583
Cytogenetic Location
5q31.1
UCSC Genome Browser
View 5q31.1 on the UCSC genome browser

Gene details

HGNC symbol
RAD50
Aliases
NBSLD; RAD502; hRad50 
Common name
RAD50 double strand break repair protein 
Description
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]
Other longevity studies of this gene
2
OMIM
604040
Ensembl
ENSG00000113522
UniProt/Swiss-Prot
A5D6Y3_HUMAN
Entrez Gene
10111
UniGene
633509
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
rad-50
Danio rerio
rad50
Drosophila melanogaster
rad50
Mus musculus
Rad50
Rattus norvegicus
Rad50
Saccharomyces cerevisiae
RAD50
Schizosaccharomyces pombe
rad50

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as RAD50

RAD51

1.
Identifier
rs5030783
Cytogenetic Location
15q15.1
UCSC Genome Browser
View 15q15.1 on the UCSC genome browser
2.
Identifier
rs11633269
Cytogenetic Location
15q15.1
UCSC Genome Browser
View 15q15.1 on the UCSC genome browser
3.
Identifier
rs1801320
Cytogenetic Location
15q15.1
UCSC Genome Browser
View 15q15.1 on the UCSC genome browser
4.
Identifier
rs7177265
Cytogenetic Location
15q15.1
UCSC Genome Browser
View 15q15.1 on the UCSC genome browser
5.
Identifier
rs2619681
Cytogenetic Location
15q15.1
UCSC Genome Browser
View 15q15.1 on the UCSC genome browser

Gene details

HGNC symbol
RAD51
Aliases
RECA; BRCC5; FANCR; MRMV2; HRAD51; RAD51A; HsRad51; HsT16930 
Common name
RAD51 recombinase 
Description
The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with the ssDNA-binding protein RPA and RAD52, and it is thought to play roles in homologous pairing and strand transfer of DNA. This protein is also found to interact with BRCA1 and BRCA2, which may be important for the cellular response to DNA damage. BRCA2 is shown to regulate both the intracellular localization and DNA-binding ability of this protein. Loss of these controls following BRCA2 inactivation may be a key event leading to genomic instability and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
Other longevity studies of this gene
4
OMIM
179617
Ensembl
ENSG00000051180
UniProt/Swiss-Prot
RAD51_HUMAN
Entrez Gene
5888
UniGene
631709
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
rad-51
Danio rerio
rad51
Drosophila melanogaster
spn-A
Mus musculus
Rad51
Rattus norvegicus
LOC100911267
Saccharomyces cerevisiae
RAD51
Schizosaccharomyces pombe
rhp51

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as RAD51
GenAge human genes
  • This gene is present as RAD51

RAD52

1.
Identifier
rs12822733
Cytogenetic Location
12p13.33
UCSC Genome Browser
View 12p13.33 on the UCSC genome browser
2.
Identifier
rs7962050
Cytogenetic Location
12p13.33
UCSC Genome Browser
View 12p13.33 on the UCSC genome browser
3.
Identifier
rs7311151
Cytogenetic Location
12p13.33
UCSC Genome Browser
View 12p13.33 on the UCSC genome browser
4.
Identifier
rs4766377
Cytogenetic Location
12p13.33
UCSC Genome Browser
View 12p13.33 on the UCSC genome browser
5.
Identifier
rs12827646
Cytogenetic Location
12p13.33
UCSC Genome Browser
View 12p13.33 on the UCSC genome browser
6.
Identifier
rs11064598
Cytogenetic Location
12p13.33
UCSC Genome Browser
View 12p13.33 on the UCSC genome browser
7.
Identifier
rs6413436
Cytogenetic Location
12p13.33
UCSC Genome Browser
View 12p13.33 on the UCSC genome browser
8.
Identifier
rs10744729
Cytogenetic Location
12p13.33
UCSC Genome Browser
View 12p13.33 on the UCSC genome browser
9.
Identifier
rs7311263
Cytogenetic Location
12p13.33
UCSC Genome Browser
View 12p13.33 on the UCSC genome browser
10.
Identifier
rs11064613
Cytogenetic Location
12p13.33
UCSC Genome Browser
View 12p13.33 on the UCSC genome browser
11.
Identifier
rs11571461
In Other Studies (IDs)
263
Cytogenetic Location
12p13.33
UCSC Genome Browser
View 12p13.33 on the UCSC genome browser

Gene details

HGNC symbol
RAD52
Aliases
 
Common name
RAD52 homolog, DNA repair protein 
Description
The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]
Other longevity studies of this gene
11
OMIM
600392
Ensembl
ENSG00000002016
UniProt/Swiss-Prot
B7Z2G8_HUMAN
Entrez Gene
5893
UniGene
410355
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
rad52
Mus musculus
Rad52
Rattus norvegicus
Rad52

In other databases

GenAge human genes
  • This gene is present as RAD52

RAD54L

1.
Identifier
rs9793263
Cytogenetic Location
1p34.1
UCSC Genome Browser
View 1p34.1 on the UCSC genome browser
2.
Identifier
rs10789488
Cytogenetic Location
1p34.1
UCSC Genome Browser
View 1p34.1 on the UCSC genome browser
3.
Identifier
rs12410307
Cytogenetic Location
1p34.1
UCSC Genome Browser
View 1p34.1 on the UCSC genome browser
4.
Identifier
rs12146051
Cytogenetic Location
1p34.1
UCSC Genome Browser
View 1p34.1 on the UCSC genome browser
5.
Identifier
rs2295465
Cytogenetic Location
1p34.1
UCSC Genome Browser
View 1p34.1 on the UCSC genome browser
6.
Identifier
rs17102087
Cytogenetic Location
1p34.1
UCSC Genome Browser
View 1p34.1 on the UCSC genome browser
7.
Identifier
rs17102086
Cytogenetic Location
1p34.1
UCSC Genome Browser
View 1p34.1 on the UCSC genome browser

Gene details

HGNC symbol
RAD54L
Aliases
HR54; hHR54; RAD54A; hRAD54 
Common name
RAD54 like (S. cerevisiae) 
Description
The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]
Other longevity studies of this gene
6
OMIM
603615
Ensembl
ENSG00000085999
UniProt/Swiss-Prot
A8K996_HUMAN
Entrez Gene
8438
UniGene
642042
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
rad-54
Danio rerio
rad54l
Drosophila melanogaster
okr
Mus musculus
Rad54l
Saccharomyces cerevisiae
RAD54
Schizosaccharomyces pombe
rhp54

RECQL

1.
Identifier
rs2284393
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
2.
Identifier
rs2284392
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
3.
Identifier
rs2192170
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
4.
Identifier
rs917855
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
5.
Identifier
rs2110159
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
6.
Identifier
rs2300211
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
7.
Identifier
rs10841830
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
8.
Identifier
rs12231436
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
9.
Identifier
rs1860947
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
10.
Identifier
rs10492116
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
11.
Identifier
rs10841833
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
12.
Identifier
rs17627175
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
13.
Identifier
rs11835261
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
14.
Identifier
rs7307519
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
15.
Identifier
rs6487233
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
16.
Identifier
rs1061627
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser
17.
Identifier
rs3213212
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser

Gene details

HGNC symbol
RECQL
Aliases
RecQ1; RECQL1 
Common name
RecQ like helicase 
Description
The protein encoded by this gene is a member of the RecQ DNA helicase family. DNA helicases are enzymes involved in various types of DNA repair, including mismatch repair, nucleotide excision repair and direct repair. The encoded protein is involved in the processing of Holliday junctions, the suppression of sister chromatid exchanges, telomere maintenance, and is required for genotoxic stress resistance. Defects in this gene have been associated with several types of cancer. [provided by RefSeq, Jan 2017]
Other longevity studies of this gene
16
OMIM
600537
Ensembl
ENSG00000004700
UniProt/Swiss-Prot
A0A024RAV2_HUMAN
Entrez Gene
5965
UniGene
235069
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
K02F3.12
Danio rerio
recql
Mus musculus
Recql
Rattus norvegicus
Recql

RECQL4

1.
Identifier
rs4251689
Cytogenetic Location
8q24.3
UCSC Genome Browser
View 8q24.3 on the UCSC genome browser

Gene details

HGNC symbol
RECQL4
Aliases
RECQ4 
Common name
RecQ like helicase 4 
Description
The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]
OMIM
603780
Ensembl
ENSG00000160957
UniProt/Swiss-Prot
RECQ4_HUMAN
Entrez Gene
9401
UniGene
31442
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC567383
Drosophila melanogaster
RecQ4
Mus musculus
Recql4
Rattus norvegicus
Recql4

In other databases

GenAge human genes
  • This gene is present as RECQL4

RECQL5

1.
Identifier
rs820157
Cytogenetic Location
17q25.1
UCSC Genome Browser
View 17q25.1 on the UCSC genome browser

Gene details

HGNC symbol
RECQL5
Aliases
RECQ5 
Common name
RecQ like helicase 5 
Description
The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
OMIM
603781
Ensembl
ENSG00000108469
UniProt/Swiss-Prot
A0A024R8M9_HUMAN
Entrez Gene
9400
UniGene
632229
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
rcq-5
Danio rerio
recql5
Drosophila melanogaster
RecQ5
Mus musculus
Recql5
Rattus norvegicus
Recql5

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as rcq-5

RFC1

1.
Identifier
rs6829064
Cytogenetic Location
4p14
UCSC Genome Browser
View 4p14 on the UCSC genome browser
2.
Identifier
rs13147094
Cytogenetic Location
4p14
UCSC Genome Browser
View 4p14 on the UCSC genome browser
3.
Identifier
rs17584703
Cytogenetic Location
4p14
UCSC Genome Browser
View 4p14 on the UCSC genome browser
4.
Identifier
rs2306596
Cytogenetic Location
4p14
UCSC Genome Browser
View 4p14 on the UCSC genome browser
5.
Identifier
rs2306597
Cytogenetic Location
4p14
UCSC Genome Browser
View 4p14 on the UCSC genome browser
6.
Identifier
rs2066789
Cytogenetic Location
4p14
UCSC Genome Browser
View 4p14 on the UCSC genome browser
7.
Identifier
rs16995255
Cytogenetic Location
4p14
UCSC Genome Browser
View 4p14 on the UCSC genome browser
8.
Identifier
rs3733282
Cytogenetic Location
4p14
UCSC Genome Browser
View 4p14 on the UCSC genome browser
9.
Identifier
rs6851075
Cytogenetic Location
4p14
UCSC Genome Browser
View 4p14 on the UCSC genome browser

Gene details

HGNC symbol
RFC1
Aliases
A1; RFC; PO-GA; RECC1; MHCBFB; RFC140 
Common name
replication factor C subunit 1 
Description
This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]
Other longevity studies of this gene
8
OMIM
102579
Ensembl
ENSG00000035928
UniProt/Swiss-Prot
RFC1_HUMAN
Entrez Gene
5981
UniGene
507475
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
rfc-1
Danio rerio
rfc1
Drosophila melanogaster
Gnf1
Mus musculus
Rfc1
Rattus norvegicus
Rfc1
Saccharomyces cerevisiae
RFC1
Schizosaccharomyces pombe
rfc1

RPA1

1.
Identifier
rs5030740
Cytogenetic Location
17p13.3
UCSC Genome Browser
View 17p13.3 on the UCSC genome browser
2.
Identifier
rs9909163
Cytogenetic Location
17p13.3
UCSC Genome Browser
View 17p13.3 on the UCSC genome browser
3.
Identifier
rs11867830
Cytogenetic Location
17p13.3
UCSC Genome Browser
View 17p13.3 on the UCSC genome browser
4.
Identifier
rs4790838
Cytogenetic Location
17p13.3
UCSC Genome Browser
View 17p13.3 on the UCSC genome browser
5.
Identifier
rs17339284
Cytogenetic Location
17p13.3
UCSC Genome Browser
View 17p13.3 on the UCSC genome browser
6.
Identifier
rs2270412
Cytogenetic Location
17p13.3
UCSC Genome Browser
View 17p13.3 on the UCSC genome browser
7.
Identifier
rs17292175
Cytogenetic Location
17p13.3
UCSC Genome Browser
View 17p13.3 on the UCSC genome browser
8.
Identifier
rs8067195
Cytogenetic Location
17p13.3
UCSC Genome Browser
View 17p13.3 on the UCSC genome browser
9.
Identifier
rs17734
Cytogenetic Location
17p13.3
UCSC Genome Browser
View 17p13.3 on the UCSC genome browser
10.
Identifier
rs5030755
Cytogenetic Location
17p13.3
UCSC Genome Browser
View 17p13.3 on the UCSC genome browser
11.
Identifier
rs4790830
Cytogenetic Location
17p13.3
UCSC Genome Browser
View 17p13.3 on the UCSC genome browser
12.
Identifier
rs2230931
Cytogenetic Location
17p13.3
UCSC Genome Browser
View 17p13.3 on the UCSC genome browser
13.
Identifier
rs2287320
Cytogenetic Location
17p13.3
UCSC Genome Browser
View 17p13.3 on the UCSC genome browser
14.
Identifier
rs16951710
Cytogenetic Location
17p13.3
UCSC Genome Browser
View 17p13.3 on the UCSC genome browser
15.
Identifier
rs11656253
Cytogenetic Location
17p13.3
UCSC Genome Browser
View 17p13.3 on the UCSC genome browser

Gene details

HGNC symbol
RPA1
Aliases
HSSB; RF-A; RP-A; REPA1; RPA70; MST075 
Common name
replication protein A1 
Description
Other longevity studies of this gene
14
OMIM
179835
Ensembl
ENSG00000132383
UniProt/Swiss-Prot
RFA1_HUMAN
Entrez Gene
6117
UniGene
461925
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
rpa-1
Danio rerio
rpa1
Drosophila melanogaster
RpA-70
Mus musculus
Rpa1
Rattus norvegicus
Rpa1
Saccharomyces cerevisiae
RFA1
Schizosaccharomyces pombe
ssb1

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as rpa-1
GenAge human genes
  • This gene is present as RPA1

SLC9A3R2

1.
Identifier
rs3211994
In Other Studies (IDs)
268
Cytogenetic Location
16p13.3
UCSC Genome Browser
View 16p13.3 on the UCSC genome browser

Gene details

HGNC symbol
SLC9A3R2
Aliases
SIP1; OCTS2; SIP-1; TKA-1; E3KARP; NHERF2; NHE3RF2; NHERF-2 
Common name
SLC9A3 regulator 2 
Description
This gene encodes a member of the NHERF family of PDZ scaffolding proteins. These proteins mediate many cellular processes by binding to and regulating the membrane expression and protein-protein interactions of membrane receptors and transport proteins. The encoded protein plays a role in intestinal sodium absorption by regulating the activity of the sodium/hydrogen exchanger 3, and may also regulate the cystic fibrosis transmembrane regulator (CFTR) ion channel. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Other longevity studies of this gene
1
OMIM
606553
Ensembl
ENSG00000065054
UniProt/Swiss-Prot
NHRF2_HUMAN
Entrez Gene
9351
UniGene
440896
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
CU571260.1
Mus musculus
Slc9a3r2
Rattus norvegicus
Slc9a3r2

SPIB

1.
Identifier
rs2445837
Cytogenetic Location
19q13.33
UCSC Genome Browser
View 19q13.33 on the UCSC genome browser

Gene details

HGNC symbol
SPIB
Aliases
SPI-B 
Common name
Spi-B transcription factor 
Description
The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
OMIM
606802
Ensembl
ENSG00000269404
UniProt/Swiss-Prot
A0A024R4I5_HUMAN
Entrez Gene
6689
UniGene
437905
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Spib
Rattus norvegicus
Spib

SUPV3L1

1.
Identifier
rs6480392
Cytogenetic Location
10q22.1
UCSC Genome Browser
View 10q22.1 on the UCSC genome browser
2.
Identifier
rs4746821
Cytogenetic Location
10q22.1
UCSC Genome Browser
View 10q22.1 on the UCSC genome browser
3.
Identifier
rs2063047
Cytogenetic Location
10q22.1
UCSC Genome Browser
View 10q22.1 on the UCSC genome browser
4.
Identifier
rs7893492
Cytogenetic Location
10q22.1
UCSC Genome Browser
View 10q22.1 on the UCSC genome browser

Gene details

HGNC symbol
SUPV3L1
Aliases
SUV3 
Common name
Suv3 like RNA helicase 
Description
Other longevity studies of this gene
3
OMIM
605122
Ensembl
ENSG00000156502
UniProt/Swiss-Prot
B7Z611_HUMAN
Entrez Gene
6832
UniGene
106469
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
C08F8.2
Danio rerio
supv3l1
Drosophila melanogaster
CG9791
Mus musculus
Supv3l1
Rattus norvegicus
Supv3l1
Saccharomyces cerevisiae
SUV3
Schizosaccharomyces pombe
suv3

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as SUV3

TERF1

1.
Identifier
rs10098931
Cytogenetic Location
8q21.11
UCSC Genome Browser
View 8q21.11 on the UCSC genome browser
2.
Identifier
rs2929586
Cytogenetic Location
8q21.11
UCSC Genome Browser
View 8q21.11 on the UCSC genome browser
3.
Identifier
rs2975842
Cytogenetic Location
8q21.11
UCSC Genome Browser
View 8q21.11 on the UCSC genome browser
4.
Identifier
rs10095169
Cytogenetic Location
8q21.11
UCSC Genome Browser
View 8q21.11 on the UCSC genome browser
5.
Identifier
rs6982126
Cytogenetic Location
8q21.11
UCSC Genome Browser
View 8q21.11 on the UCSC genome browser

Gene details

HGNC symbol
TERF1
Aliases
TRF; PIN2; TRF1; TRBF1; t-TRF1; hTRF1-AS 
Common name
telomeric repeat binding factor 1 
Description
This gene encodes a telomere specific protein which is a component of the telomere nucleoprotein complex. This protein is present at telomeres throughout the cell cycle and functions as an inhibitor of telomerase, acting in cis to limit the elongation of individual chromosome ends. The protein structure contains a C-terminal Myb motif, a dimerization domain near its N-terminus and an acidic N-terminus. Two transcripts of this gene are alternatively spliced products. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
4
OMIM
600951
Ensembl
ENSG00000147601
UniProt/Swiss-Prot
TERF1_HUMAN
Entrez Gene
7013
UniGene
442707
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
terf1
Mus musculus
Terf1
Rattus norvegicus
Terf1

In other databases

GenAge human genes
  • This gene is present as TERF1

TERF2

1.
Identifier
rs9925619
Cytogenetic Location
16q22.1
UCSC Genome Browser
View 16q22.1 on the UCSC genome browser
2.
Identifier
rs8061352
Cytogenetic Location
16q22.1
UCSC Genome Browser
View 16q22.1 on the UCSC genome browser
3.
Identifier
rs251796
Cytogenetic Location
16q22.1
UCSC Genome Browser
View 16q22.1 on the UCSC genome browser
4.
Identifier
rs35439397
Cytogenetic Location
16q22.1
UCSC Genome Browser
View 16q22.1 on the UCSC genome browser
5.
Identifier
rs34295116
Cytogenetic Location
16q22.1
UCSC Genome Browser
View 16q22.1 on the UCSC genome browser
6.
Identifier
rs34415214
Cytogenetic Location
16q22.1
UCSC Genome Browser
View 16q22.1 on the UCSC genome browser
7.
Identifier
rs153045
Cytogenetic Location
16q22.1
UCSC Genome Browser
View 16q22.1 on the UCSC genome browser
8.
Identifier
rs13337258
Cytogenetic Location
16q22.1
UCSC Genome Browser
View 16q22.1 on the UCSC genome browser

Gene details

HGNC symbol
TERF2
Aliases
TRF2; TRBF2 
Common name
telomeric repeat binding factor 2 
Description
This gene encodes a telomere specific protein, TERF2, which is a component of the telomere nucleoprotein complex. This protein is present at telomeres in metaphase of the cell cycle, is a second negative regulator of telomere length and plays a key role in the protective activity of telomeres. While having similar telomere binding activity and domain organization, TERF2 differs from TERF1 in that its N terminus is basic rather than acidic. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
7
OMIM
602027
Ensembl
ENSG00000132604
UniProt/Swiss-Prot
TERF2_HUMAN
Entrez Gene
7014
UniGene
63335
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
terfa
Mus musculus
Terf2
Rattus norvegicus
Terf2

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Terf2
GenAge human genes
  • This gene is present as TERF2
CellAge
  • This gene is present as TERF2

TERF2IP

1.
Identifier
rs7186790
Cytogenetic Location
16q23.1
UCSC Genome Browser
View 16q23.1 on the UCSC genome browser
2.
Identifier
rs11639771
Cytogenetic Location
16q23.1
UCSC Genome Browser
View 16q23.1 on the UCSC genome browser
3.
Identifier
rs4888444
Cytogenetic Location
16q23.1
UCSC Genome Browser
View 16q23.1 on the UCSC genome browser

Gene details

HGNC symbol
TERF2IP
Aliases
RAP1; DRIP5 
Common name
TERF2 interacting protein 
Description
The gene encodes a protein that is part of a complex involved in telomere length regulation. Pseudogenes are present on chromosomes 5 and 22. [provided by RefSeq, Apr 2010]
Other longevity studies of this gene
2
OMIM
605061
Ensembl
ENSG00000166848
UniProt/Swiss-Prot
TE2IP_HUMAN
Entrez Gene
54386
UniGene
301419
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Terf2ip
Rattus norvegicus
Terf2ip

TERT

1.
Identifier
rs2853668
Cytogenetic Location
5p15.33
UCSC Genome Browser
View 5p15.33 on the UCSC genome browser
2.
Identifier
rs2736100
Cytogenetic Location
5p15.33
UCSC Genome Browser
View 5p15.33 on the UCSC genome browser
3.
Identifier
rs2853676
Cytogenetic Location
5p15.33
UCSC Genome Browser
View 5p15.33 on the UCSC genome browser
4.
Identifier
rs10069690
Cytogenetic Location
5p15.33
UCSC Genome Browser
View 5p15.33 on the UCSC genome browser
5.
Identifier
rs2735940
Cytogenetic Location
5p15.33
UCSC Genome Browser
View 5p15.33 on the UCSC genome browser
6.
Identifier
rs33954691
In Other Studies (IDs)
798
Cytogenetic Location
5p15.33
UCSC Genome Browser
View 5p15.33 on the UCSC genome browser
7.
Identifier
rs3891054
Cytogenetic Location
5p15.33
UCSC Genome Browser
View 5p15.33 on the UCSC genome browser
8.
Identifier
rs2736114
Cytogenetic Location
5p15.33
UCSC Genome Browser
View 5p15.33 on the UCSC genome browser
9.
Identifier
rs13167280
Cytogenetic Location
5p15.33
UCSC Genome Browser
View 5p15.33 on the UCSC genome browser
10.
Identifier
rs2736122
Cytogenetic Location
5p15.33
UCSC Genome Browser
View 5p15.33 on the UCSC genome browser
11.
Identifier
rs4246742
Cytogenetic Location
5p15.33
UCSC Genome Browser
View 5p15.33 on the UCSC genome browser

Gene details

HGNC symbol
TERT
Aliases
TP2; TRT; CMM9; EST2; TCS1; hTRT; DKCA2; DKCB4; hEST2; PFBMFT1 
Common name
telomerase reverse transcriptase 
Description
Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
16
OMIM
187270
Ensembl
ENSG00000164362
UniProt/Swiss-Prot
TERT_HUMAN
Entrez Gene
7015
UniGene
492203
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tert
Mus musculus
Tert
Rattus norvegicus
Tert
Saccharomyces cerevisiae
EST2
Schizosaccharomyces pombe
trt1

In other databases

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

TFAM

1.
Identifier
rs16912200
Cytogenetic Location
10q21.1
UCSC Genome Browser
View 10q21.1 on the UCSC genome browser
2.
Identifier
rs3876
Cytogenetic Location
10q21.1
UCSC Genome Browser
View 10q21.1 on the UCSC genome browser
3.
Identifier
rs11006127
Cytogenetic Location
10q21.1
UCSC Genome Browser
View 10q21.1 on the UCSC genome browser
4.
Identifier
rs10826179
Cytogenetic Location
10q21.1
UCSC Genome Browser
View 10q21.1 on the UCSC genome browser
5.
Identifier
rs2279339
Cytogenetic Location
10q21.1
UCSC Genome Browser
View 10q21.1 on the UCSC genome browser
6.
Identifier
rs11006132
Cytogenetic Location
10q21.1
UCSC Genome Browser
View 10q21.1 on the UCSC genome browser

Gene details

HGNC symbol
TFAM
Aliases
TCF6; MTTF1; MTTFA; TCF6L1; TCF6L2; TCF6L3; MTDPS15 
Common name
transcription factor A, mitochondrial 
Description
This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Other longevity studies of this gene
6
OMIM
600438
Ensembl
ENSG00000108064
UniProt/Swiss-Prot
E5KSU5_HUMAN
Entrez Gene
7019
UniGene
594250
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
hmg-5
Danio rerio
tfam
Drosophila melanogaster
TFAM
Mus musculus
Tfam
Rattus norvegicus
Tfam

TMEM230

1.
Identifier
rs3729558
Cytogenetic Location
20p13-p12.3
UCSC Genome Browser
View 20p13-p12.3 on the UCSC genome browser

Gene details

HGNC symbol
TMEM230
Aliases
HSPC274; C20orf30; dJ1116H23.2.1 
Common name
transmembrane protein 230 
Description
This gene encodes a multi-pass transmembrane protein that belongs to the TMEM134/TMEM230 protein family. The encoded protein localizes to secretory and recycling vesicle in the neuron and may be involved in synaptic vesicles trafficking and recycling. Mutations in this gene may be linked to familial Parkinson's disease. [provided by RefSeq, Mar 2017]
OMIM
617019
Ensembl
ENSG00000089063
UniProt/Swiss-Prot
A0A087WTT2_HUMAN
Entrez Gene
29058
UniGene
472024
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
zgc:101123
Mus musculus
Tmem230
Rattus norvegicus
Tmem230

TP53

1.
Identifier
rs9894946
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser
2.
Identifier
rs9903378
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser
3.
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser
4.
Identifier
rs2909430
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser
5.
Identifier
rs17880604
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser
6.
Identifier
rs12951053
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser
7.
Identifier
rs8079544
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser
8.
Identifier
rs2078486
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

TSC2

1.
Identifier
rs2516739
Cytogenetic Location
16p13.3
UCSC Genome Browser
View 16p13.3 on the UCSC genome browser

Gene details

HGNC symbol
TSC2
Aliases
LAM; TSC4; PPP1R160 
Common name
tuberous sclerosis 2 
Description
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
191092
Ensembl
ENSG00000103197
UniProt/Swiss-Prot
B3KWH7_HUMAN
Entrez Gene
7249
UniGene
90303
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tsc2
Drosophila melanogaster
gig
Mus musculus
Tsc2
Rattus norvegicus
Tsc2
Schizosaccharomyces pombe
tsc2

In other databases

GenAge model organism genes
  • A homolog of this gene for Drosophila melanogaster is present as gig
GenDR gene manipulations
  • A homolog of this gene for Drosophila melanogaster is present as gig

TWNK

1.
Identifier
rs3740487
Cytogenetic Location
10q24.31
UCSC Genome Browser
View 10q24.31 on the UCSC genome browser

Gene details

HGNC symbol
TWNK
Aliases
PEO; PEO1; SCA8; ATXN8; IOSCA; PEOA3; SANDO; TWINL; MTDPS7; PRLTS5; C10orf2 
Common name
twinkle mtDNA helicase 
Description
This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]
OMIM
606075
Ensembl
ENSG00000107815
UniProt/Swiss-Prot
E5KSY5_HUMAN
Entrez Gene
56652
UniGene
22678
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_F46G11.1
Danio rerio
uncharacterized_F1R9
Drosophila melanogaster
mtDNA-helicase
Mus musculus
Peo1
Rattus norvegicus
Peo1

UNG

1.
Identifier
rs2569987
Cytogenetic Location
12q24.11
UCSC Genome Browser
View 12q24.11 on the UCSC genome browser
2.
Identifier
rs759561
Cytogenetic Location
12q24.11
UCSC Genome Browser
View 12q24.11 on the UCSC genome browser
3.
Identifier
rs246079
Cytogenetic Location
12q24.11
UCSC Genome Browser
View 12q24.11 on the UCSC genome browser
4.
Identifier
rs3219243
Cytogenetic Location
12q24.11
UCSC Genome Browser
View 12q24.11 on the UCSC genome browser
5.
Identifier
rs2541886
Cytogenetic Location
12q24.11
UCSC Genome Browser
View 12q24.11 on the UCSC genome browser

Gene details

HGNC symbol
UNG
Aliases
DGU; UDG; UNG1; UNG2; HIGM4; HIGM5; UNG15 
Common name
uracil DNA glycosylase 
Description
This gene encodes one of several uracil-DNA glycosylases. One important function of uracil-DNA glycosylases is to prevent mutagenesis by eliminating uracil from DNA molecules by cleaving the N-glycosylic bond and initiating the base-excision repair (BER) pathway. Uracil bases occur from cytosine deamination or misincorporation of dUMP residues. Alternative promoter usage and splicing of this gene leads to two different isoforms: the mitochondrial UNG1 and the nuclear UNG2. The UNG2 term was used as a previous symbol for the CCNO gene (GeneID 10309), which has been confused with this gene, in the literature and some databases. [provided by RefSeq, Nov 2010]
Other longevity studies of this gene
4
OMIM
191525
Ensembl
ENSG00000076248
UniProt/Swiss-Prot
E5KTA5_HUMAN
Entrez Gene
7374
UniGene
191334
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
ung-1
Danio rerio
unga
Mus musculus
Ung
Rattus norvegicus
Ung
Saccharomyces cerevisiae
UNG1
Schizosaccharomyces pombe
ung1

WRN

1.
Identifier
rs2230009
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
2.
Identifier
rs11574218
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
3.
Identifier
rs4733220
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
4.
Identifier
rs6982948
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
5.
Identifier
rs1882928
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
6.
Identifier
rs1800389
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
7.
Identifier
rs13269094
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
8.
Identifier
rs2113950
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
9.
Identifier
rs1346044
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
10.
Identifier
rs2725344
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
11.
Identifier
rs1800391
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
12.
Identifier
rs11574309
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
13.
Identifier
rs2725351
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
14.
Identifier
rs6982140
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
15.
Identifier
rs11574214
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
16.
Identifier
rs11574304
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
17.
Identifier
rs13251813
In Other Studies (IDs)
266
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser

Gene details

HGNC symbol
WRN
Aliases
RECQ3; RECQL2; RECQL3 
Common name
Werner syndrome RecQ like helicase 
Description
This gene encodes a member of the RecQ subfamily and the DEAH (Asp-Glu-Ala-His) subfamily of DNA and RNA helicases. DNA helicases are involved in many aspects of DNA metabolism, including transcription, replication, recombination, and repair. This protein contains a nuclear localization signal in the C-terminus and shows a predominant nucleolar localization. It possesses an intrinsic 3' to 5' DNA helicase activity, and is also a 3' to 5' exonuclease. Based on interactions between this protein and Ku70/80 heterodimer in DNA end processing, this protein may be involved in the repair of double strand DNA breaks. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by premature aging. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
25
OMIM
604611
Ensembl
ENSG00000165392
UniProt/Swiss-Prot
Q59F09_HUMAN
Entrez Gene
7486
UniGene
632050
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
wrn-1
Danio rerio
wrn
Mus musculus
Wrn
Rattus norvegicus
Wrn
Saccharomyces cerevisiae
SGS1

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as SGS1
GenAge human genes
  • This gene is present as WRN
CellAge
  • This gene is present as WRN

XPA

1.
Identifier
rs2808667
Cytogenetic Location
9q22.33
UCSC Genome Browser
View 9q22.33 on the UCSC genome browser
2.
Identifier
rs3176658
Cytogenetic Location
9q22.33
UCSC Genome Browser
View 9q22.33 on the UCSC genome browser
3.
Identifier
rs2808668
Cytogenetic Location
9q22.33
UCSC Genome Browser
View 9q22.33 on the UCSC genome browser
4.
Identifier
rs3176689
Cytogenetic Location
9q22.33
UCSC Genome Browser
View 9q22.33 on the UCSC genome browser
5.
Identifier
rs3176683
Cytogenetic Location
9q22.33
UCSC Genome Browser
View 9q22.33 on the UCSC genome browser
6.
Identifier
rs3176757
Cytogenetic Location
9q22.33
UCSC Genome Browser
View 9q22.33 on the UCSC genome browser
7.
Identifier
rs2805835
Cytogenetic Location
9q22.33
UCSC Genome Browser
View 9q22.33 on the UCSC genome browser
8.
Identifier
rs3176748
Cytogenetic Location
9q22.33
UCSC Genome Browser
View 9q22.33 on the UCSC genome browser

Gene details

HGNC symbol
XPA
Aliases
XP1; XPAC 
Common name
XPA, DNA damage recognition and repair factor 
Description
This gene encodes a zinc finger protein involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
Other longevity studies of this gene
7
OMIM
611153
Ensembl
ENSG00000136936
UniProt/Swiss-Prot
XPA_HUMAN
Entrez Gene
7507
UniGene
654364
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
xpa-1
Drosophila melanogaster
Xpac
Mus musculus
Xpa
Rattus norvegicus
Xpa
Saccharomyces cerevisiae
RAD14
Schizosaccharomyces pombe
rhp14

In other databases

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

XPC

1.
Identifier
rs3731108
Cytogenetic Location
3p25.1
UCSC Genome Browser
View 3p25.1 on the UCSC genome browser
2.
Identifier
rs2733534
Cytogenetic Location
3p25.1
UCSC Genome Browser
View 3p25.1 on the UCSC genome browser
3.
Identifier
rs2228000
Cytogenetic Location
3p25.1
UCSC Genome Browser
View 3p25.1 on the UCSC genome browser
4.
Identifier
rs3731143
Cytogenetic Location
3p25.1
UCSC Genome Browser
View 3p25.1 on the UCSC genome browser
5.
Identifier
rs2733537
Cytogenetic Location
3p25.1
UCSC Genome Browser
View 3p25.1 on the UCSC genome browser
6.
Identifier
rs9653966
Cytogenetic Location
3p25.1
UCSC Genome Browser
View 3p25.1 on the UCSC genome browser
7.
Identifier
rs13099160
Cytogenetic Location
3p25.1
UCSC Genome Browser
View 3p25.1 on the UCSC genome browser
8.
Identifier
rs2228001
Cytogenetic Location
3p25.1
UCSC Genome Browser
View 3p25.1 on the UCSC genome browser

Gene details

HGNC symbol
XPC
Aliases
XP3; RAD4; XPCC; p125 
Common name
XPC complex subunit, DNA damage recognition and repair factor 
Description
This gene encodes a component of the nucleotide excision repair (NER) pathway. There are multiple components involved in the NER pathway, including Xeroderma pigmentosum (XP) A-G and V, Cockayne syndrome (CS) A and B, and trichothiodystrophy (TTD) group A, etc. This component, XPC, plays an important role in the early steps of global genome NER, especially in damage recognition, open complex formation, and repair protein complex formation. Mutations in this gene or some other NER components result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
Other longevity studies of this gene
7
OMIM
613208
Ensembl
ENSG00000154767
UniProt/Swiss-Prot
X5DRB1_HUMAN
Entrez Gene
7508
UniGene
475538
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
xpc
Mus musculus
Xpc
Rattus norvegicus
Xpc
Saccharomyces cerevisiae
RAD4

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as RAD4

XRCC1

1.
Identifier
rs25487
Cytogenetic Location
19q13.31
UCSC Genome Browser
View 19q13.31 on the UCSC genome browser
2.
Identifier
rs1001581
Cytogenetic Location
19q13.31
UCSC Genome Browser
View 19q13.31 on the UCSC genome browser
3.
Identifier
rs2854508
Cytogenetic Location
19q13.31
UCSC Genome Browser
View 19q13.31 on the UCSC genome browser
4.
Identifier
rs2854501
Cytogenetic Location
19q13.31
UCSC Genome Browser
View 19q13.31 on the UCSC genome browser
5.
Identifier
rs3213282
Cytogenetic Location
19q13.31
UCSC Genome Browser
View 19q13.31 on the UCSC genome browser
6.
Identifier
rs2854510
Cytogenetic Location
19q13.31
UCSC Genome Browser
View 19q13.31 on the UCSC genome browser
7.
Identifier
rs1799782
Cytogenetic Location
19q13.31
UCSC Genome Browser
View 19q13.31 on the UCSC genome browser
8.
Identifier
rs3213403
Cytogenetic Location
19q13.31
UCSC Genome Browser
View 19q13.31 on the UCSC genome browser
9.
Identifier
rs3213266
Cytogenetic Location
19q13.31
UCSC Genome Browser
View 19q13.31 on the UCSC genome browser
10.
Identifier
rs2023614
Cytogenetic Location
19q13.31
UCSC Genome Browser
View 19q13.31 on the UCSC genome browser

Gene details

HGNC symbol
XRCC1
Aliases
RCC 
Common name
X-ray repair cross complementing 1 
Description
The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
11
OMIM
194360
Ensembl
ENSG00000073050
UniProt/Swiss-Prot
B2RCY5_HUMAN
Entrez Gene
7515
UniGene
98493
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
xrcc1
Mus musculus
Xrcc1
Rattus norvegicus
Xrcc1

XRCC4

1.
Identifier
rs177297
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
2.
Identifier
rs301287
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
3.
Identifier
rs301275
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
4.
Identifier
rs13178127
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
5.
Identifier
rs6452524
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
6.
Identifier
rs1056503
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
7.
Identifier
rs7711825
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
8.
Identifier
rs2731852
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
9.
Identifier
rs7720588
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
10.
Identifier
rs1193695
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
11.
Identifier
rs2075685
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
12.
Identifier
rs1478483
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
13.
Identifier
rs1478486
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
14.
Identifier
rs10474079
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
15.
Identifier
rs7735781
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
16.
Identifier
rs1011980
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser
17.
Identifier
rs16900340
Cytogenetic Location
5q14.2
UCSC Genome Browser
View 5q14.2 on the UCSC genome browser

Gene details

HGNC symbol
XRCC4
Aliases
SSMED 
Common name
X-ray repair cross complementing 4 
Description
The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternative splicing generates several transcript variants. [provided by RefSeq, Dec 2015]
Other longevity studies of this gene
17
OMIM
194363
Ensembl
ENSG00000152422
UniProt/Swiss-Prot
A0A024RAL0_HUMAN
Entrez Gene
7518
UniGene
567359
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
xrcc4
Mus musculus
Xrcc4
Rattus norvegicus
Xrcc4

XRCC5

1.
Identifier
rs3834
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
2.
Identifier
rs668844
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
3.
Identifier
rs16855458
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
4.
Identifier
rs3770500
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
5.
Identifier
rs207924
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
6.
Identifier
rs13006837
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
7.
Identifier
rs4674066
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
8.
Identifier
rs207943
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
9.
Identifier
rs2303400
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
10.
Identifier
rs207929
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
11.
Identifier
rs3821107
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
12.
Identifier
rs16855489
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
13.
Identifier
rs828910
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
14.
Identifier
rs705649
In Other Studies (IDs)
275
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
15.
Identifier
rs1364726
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
16.
Identifier
rs10166817
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
17.
Identifier
rs828704
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
18.
Identifier
rs207910
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
19.
Identifier
rs207905
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser
20.
Identifier
rs11685387
Cytogenetic Location
2q35
UCSC Genome Browser
View 2q35 on the UCSC genome browser

Gene details

HGNC symbol
XRCC5
Aliases
KU80; KUB2; Ku86; NFIV; KARP1; KARP-1 
Common name
X-ray repair cross complementing 5 
Description
The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events. This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
21
OMIM
194364
Ensembl
ENSG00000079246
UniProt/Swiss-Prot
XRCC5_HUMAN
Entrez Gene
7520
UniGene
388739
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
cku-80
Danio rerio
xrcc5
Drosophila melanogaster
Ku80
Mus musculus
Xrcc5
Rattus norvegicus
Xrcc5
Schizosaccharomyces pombe
pku80

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Xrcc5
GenAge human genes
  • This gene is present as XRCC5

YBX1

1.
Identifier
rs11210696
Cytogenetic Location
1p34.2
UCSC Genome Browser
View 1p34.2 on the UCSC genome browser
2.
Identifier
rs6659400
Cytogenetic Location
1p34.2
UCSC Genome Browser
View 1p34.2 on the UCSC genome browser
3.
Identifier
rs12030724
Cytogenetic Location
1p34.2
UCSC Genome Browser
View 1p34.2 on the UCSC genome browser
4.
Identifier
rs10493113
Cytogenetic Location
1p34.2
UCSC Genome Browser
View 1p34.2 on the UCSC genome browser
5.
Identifier
rs11210698
Cytogenetic Location
1p34.2
UCSC Genome Browser
View 1p34.2 on the UCSC genome browser
6.
Identifier
rs3895305
Cytogenetic Location
1p34.2
UCSC Genome Browser
View 1p34.2 on the UCSC genome browser
7.
Identifier
rs10493112
Cytogenetic Location
1p34.2
UCSC Genome Browser
View 1p34.2 on the UCSC genome browser

Gene details

HGNC symbol
YBX1
Aliases
YB1; BP-8; CSDB; DBPB; YB-1; CBF-A; CSDA2; EFI-A; NSEP1; NSEP-1; MDR-NF1 
Common name
Y-box binding protein 1 
Description
This gene encodes a highly conserved cold shock domain protein that has broad nucleic acid binding properties. The encoded protein functions as both a DNA and RNA binding protein and has been implicated in numerous cellular processes including regulation of transcription and translation, pre-mRNA splicing, DNA reparation and mRNA packaging. This protein is also a component of messenger ribonucleoprotein (mRNP) complexes and may have a role in microRNA processing. This protein can be secreted through non-classical pathways and functions as an extracellular mitogen. Aberrant expression of the gene is associated with cancer proliferation in numerous tissues. This gene may be a prognostic marker for poor outcome and drug resistance in certain cancers. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Sep 2015]
Other longevity studies of this gene
6
OMIM
154030
Ensembl
ENSG00000065978
UniProt/Swiss-Prot
YBOX1_HUMAN
Entrez Gene
4904
UniGene
473583
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ybx1
Mus musculus
Ybx1
Rattus norvegicus
LOC100912427

References

Debrabant et al. (2014)

Other variants which are also part of this study