LongevityMap variant group

Entry Details

Longevity Association
Significant
Population
American (Caucasian)
Study Design
Genome-wide association study in 801 centenarians and 914 healthy controls
Conclusions
281 SNPs were found to discriminate between cases and controls

Variants (281)

No gene

1.
Identifier
rs1189843
Cytogenetic Location
2.
Identifier
rs2304965
Cytogenetic Location
3.
Identifier
rs12353067
Cytogenetic Location
4.
Identifier
rs12621193
Cytogenetic Location
5.
Identifier
rs2722222
Cytogenetic Location
6.
Identifier
rs4497194
Cytogenetic Location
7.
Identifier
rs9378384
Cytogenetic Location
8.
Identifier
rs2660342
Cytogenetic Location
9.
Identifier
rs8073559
Cytogenetic Location
10.
Identifier
rs1550765
Cytogenetic Location
11.
Identifier
rs2331101
Cytogenetic Location
12.
Identifier
rs346119
Cytogenetic Location
13.
Identifier
rs6946852
Cytogenetic Location
14.
Identifier
rs2543356
Cytogenetic Location
15.
Identifier
rs1581035
Cytogenetic Location
16.
Identifier
rs12043001
Cytogenetic Location
17.
Identifier
rs11943045
Cytogenetic Location
18.
Identifier
rs13125710
Cytogenetic Location
19.
Identifier
rs1490813
Cytogenetic Location
20.
Identifier
rs8003056
Cytogenetic Location
21.
Identifier
rs7677714
Cytogenetic Location
22.
Identifier
rs2553377
Cytogenetic Location
23.
Identifier
rs9324976
Cytogenetic Location
24.
Identifier
rs10229977
Cytogenetic Location
25.
Identifier
rs1812736
Cytogenetic Location
26.
Identifier
rs7505612
Cytogenetic Location
27.
Identifier
rs2660885
Cytogenetic Location
28.
Identifier
rs1322048
Cytogenetic Location
29.
Identifier
rs8069437
Cytogenetic Location
30.
Identifier
rs1674159
Cytogenetic Location
31.
Identifier
rs11601702
Cytogenetic Location
32.
Identifier
rs2247549
Cytogenetic Location
33.
Identifier
rs975072
Cytogenetic Location
34.
Identifier
rs9899404
Cytogenetic Location
35.
Identifier
rs1340573
Cytogenetic Location
36.
Identifier
rs147295
Cytogenetic Location
37.
Identifier
rs6580511
Cytogenetic Location
38.
Identifier
rs1411552
Cytogenetic Location
39.
Identifier
rs10489436
Cytogenetic Location
40.
Identifier
rs4722094
Cytogenetic Location
41.
Identifier
rs4285687
Cytogenetic Location
42.
Identifier
rs12446827
Cytogenetic Location
43.
Identifier
rs10890985
Cytogenetic Location
44.
Identifier
rs2738173
Cytogenetic Location
45.
Identifier
rs2745252
Cytogenetic Location
46.
Identifier
rs1016013
Cytogenetic Location
47.
Identifier
rs829751
Cytogenetic Location
48.
Identifier
rs2334207
Cytogenetic Location
49.
Identifier
rs1568282
Cytogenetic Location
50.
Identifier
rs4245543
Cytogenetic Location
51.
Identifier
rs9513192
Cytogenetic Location
52.
Identifier
rs7155817
Cytogenetic Location
53.
Identifier
rs899430
Cytogenetic Location
54.
Identifier
rs1505696
Cytogenetic Location
55.
Identifier
rs4461634
Cytogenetic Location
56.
Identifier
rs1002098
Cytogenetic Location
57.
Identifier
rs11063009
Cytogenetic Location
58.
Identifier
rs1834461
Cytogenetic Location
59.
Identifier
rs4933309
Cytogenetic Location
60.
Identifier
rs1470196
Cytogenetic Location
61.
Identifier
rs452707
Cytogenetic Location
62.
Identifier
rs9308765
Cytogenetic Location
63.
Identifier
rs1858897
Cytogenetic Location
64.
Identifier
rs767478
Cytogenetic Location
65.
Identifier
rs828154
Cytogenetic Location
66.
Identifier
rs2866705
Cytogenetic Location
67.
Identifier
rs277432
Cytogenetic Location
68.
Identifier
rs303542
Cytogenetic Location
69.
Identifier
rs8018467
Cytogenetic Location
70.
Identifier
rs2660888
Cytogenetic Location
71.
Identifier
rs4141153
Cytogenetic Location
72.
Identifier
rs2253363
Cytogenetic Location
73.
Identifier
rs514217
Cytogenetic Location
74.
Identifier
rs11687681
Cytogenetic Location
75.
Identifier
rs2880540
Cytogenetic Location
76.
Identifier
rs11610554
Cytogenetic Location
77.
Identifier
rs1368774
Cytogenetic Location
78.
Identifier
rs751481
Cytogenetic Location
79.
Identifier
rs10923673
Cytogenetic Location
80.
Identifier
rs3904864
Cytogenetic Location
81.
Identifier
rs9652250
Cytogenetic Location
82.
Identifier
rs855137
Cytogenetic Location
83.
Identifier
rs10505561
Cytogenetic Location
84.
Identifier
rs1998536
Cytogenetic Location
85.
Identifier
rs8098316
Cytogenetic Location
86.
Identifier
rs1525501
Cytogenetic Location
87.
Identifier
rs2679234
Cytogenetic Location
88.
Identifier
rs2014547
Cytogenetic Location
89.
Identifier
rs401974
Cytogenetic Location
90.
Identifier
rs2927261
Cytogenetic Location
91.
Identifier
rs4771711
Cytogenetic Location
92.
Identifier
rs12129750
Cytogenetic Location
93.
Identifier
rs10863373
Cytogenetic Location
94.
Identifier
rs2604294
Cytogenetic Location
95.
Identifier
rs10263457
Cytogenetic Location
96.
Identifier
rs8080728
Cytogenetic Location
97.
Identifier
rs158807
Cytogenetic Location
98.
Identifier
rs10498342
Cytogenetic Location
99.
Identifier
rs1230155
Cytogenetic Location
100.
Identifier
rs12489296
Cytogenetic Location
101.
Identifier
rs12606250
Cytogenetic Location
102.
Identifier
rs1822590
Cytogenetic Location
103.
Identifier
rs12121466
Cytogenetic Location
104.
Identifier
rs924584
Cytogenetic Location
105.
Identifier
rs567971
Cytogenetic Location
106.
Identifier
rs2901840
Cytogenetic Location
107.
Identifier
rs11189119
Cytogenetic Location

ADAMTSL1

1.
Identifier
rs3780223
Cytogenetic Location
9p22.2-p22.1
UCSC Genome Browser
View 9p22.2-p22.1 on the UCSC genome browser

Gene details

HGNC symbol
ADAMTSL1
Aliases
C9orf94; PUNCTIN; ADAMTSR1; ADAMTSL-1 
Common name
ADAMTS like 1 
Description
This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
OMIM
609198
Ensembl
ENSG00000178031
UniProt/Swiss-Prot
ATL1_HUMAN
Entrez Gene
92949
UniGene
741483
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Adamtsl1
Rattus norvegicus
Adamtsl1

AIF1

1.
Identifier
rs2269475
Cytogenetic Location
6p21.33
UCSC Genome Browser
View 6p21.33 on the UCSC genome browser

Gene details

HGNC symbol
AIF1
Aliases
IBA1; IRT1; AIF-1; IRT-1 
Common name
allograft inflammatory factor 1 
Description
This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]
OMIM
601833
Ensembl
ENSG00000204472
UniProt/Swiss-Prot
AIF1_HUMAN
Entrez Gene
199
UniGene
76364
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Aif1
Rattus norvegicus
Aif1

ANGEL1

1.
Identifier
rs2075773
Cytogenetic Location
14q24.3
UCSC Genome Browser
View 14q24.3 on the UCSC genome browser
2.
Identifier
rs1076584
Cytogenetic Location
14q24.3
UCSC Genome Browser
View 14q24.3 on the UCSC genome browser

Gene details

HGNC symbol
ANGEL1
Aliases
Ccr4e; KIAA0759 
Common name
angel homolog 1 
Description
Other longevity studies of this gene
1
OMIM
Ensembl
ENSG00000013523
UniProt/Swiss-Prot
A0A024R6B2_HUMAN
Entrez Gene
23357
UniGene
497448
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC569547
Drosophila melanogaster
angel
Mus musculus
Angel1
Rattus norvegicus
Angel1

APBB2

1.
Identifier
rs765850
Cytogenetic Location
4p14-p13
UCSC Genome Browser
View 4p14-p13 on the UCSC genome browser

Gene details

HGNC symbol
APBB2
Aliases
FE65L; FE65L1 
Common name
amyloid beta precursor protein binding family B member 2 
Description
The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
OMIM
602710
Ensembl
ENSG00000163697
UniProt/Swiss-Prot
APBB2_HUMAN
Entrez Gene
323
UniGene
479602
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
apbb2b
Mus musculus
Apbb2
Rattus norvegicus
Apbb2

ASIC2

1.
Identifier
rs7207422
Cytogenetic Location
17q11.2-q12
UCSC Genome Browser
View 17q11.2-q12 on the UCSC genome browser

Gene details

HGNC symbol
ASIC2
Aliases
ACCN; BNC1; MDEG; ACCN1; BNaC1; ASIC2a; hBNaC1 
Common name
acid sensing ion channel subunit 2 
Description
This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]
Other longevity studies of this gene
3
OMIM
601784
Ensembl
ENSG00000108684
UniProt/Swiss-Prot
ASIC2_HUMAN
Entrez Gene
40
UniGene
368417
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
asic2
Mus musculus
Asic2
Rattus norvegicus
Asic2

ATXN7L3B

1.
Identifier
rs1389488
Cytogenetic Location
12q21.1
UCSC Genome Browser
View 12q21.1 on the UCSC genome browser

Gene details

HGNC symbol
ATXN7L3B
Aliases
lnc-SCA7 
Common name
ataxin 7 like 3B 
Description
OMIM
615579
Ensembl
ENSG00000253719
UniProt/Swiss-Prot
A7L3B_HUMAN
Entrez Gene
552889
UniGene
744849
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Atxn7l3b
Rattus norvegicus
Atxn7l3b

BABAM2

1.
Identifier
rs6732163
Cytogenetic Location
2p23.2
UCSC Genome Browser
View 2p23.2 on the UCSC genome browser

Gene details

HGNC symbol
BABAM2
Aliases
BRE; BRCC4; BRCC45 
Common name
BRISC and BRCA1 A complex member 2 
Description
This gene encodes an anti-apoptotic, death receptor-associated protein that interacts with tumor necrosis factor-receptor-1. The encoded protein acts as an adapter in several protein complexes, including the BRCA1-A complex and the BRISC complex. The BRCA1-A complex possesses ubiquitinase activity and targets sites of double strand DNA breaks, while the BRISC complex exhibits deubiquitinase activity and is involved in mitotic spindle assembly. This gene is upregulated in several types of cancer. [provided by RefSeq, Jun 2016]
OMIM
610497
Ensembl
ENSG00000158019
UniProt/Swiss-Prot
BRE_HUMAN
Entrez Gene
9577
UniGene
258314
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
bre
Mus musculus
Bre
Rattus norvegicus
Bre

BHLHE41

1.
Identifier
rs7959761
Cytogenetic Location
12p12.1
UCSC Genome Browser
View 12p12.1 on the UCSC genome browser

Gene details

HGNC symbol
BHLHE41
Aliases
DEC2; hDEC2; BHLHB3; SHARP1 
Common name
basic helix-loop-helix family member e41 
Description
This gene encodes a basic helix-loop-helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E-box binding sites in the promoter of PER1 and repress CLOCK/ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation. Defects in this gene are associated with the short sleep phenotype. [provided by RefSeq, Feb 2014]
OMIM
606200
Ensembl
ENSG00000123095
UniProt/Swiss-Prot
A0A024RAV8_HUMAN
Entrez Gene
79365
UniGene
177841
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
bhlhe41
Mus musculus
Bhlhe41
Rattus norvegicus
Bhlhb3

BTBD19

1.
Identifier
rs11211037
Cytogenetic Location
1p34.1
UCSC Genome Browser
View 1p34.1 on the UCSC genome browser

Gene details

HGNC symbol
BTBD19
Aliases
 
Common name
BTB domain containing 19 
Description
OMIM
Ensembl
ENSG00000222009
UniProt/Swiss-Prot
BTBDJ_HUMAN
Entrez Gene
149478
UniGene
632400
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
bath-35
Drosophila melanogaster
CG7102
Rattus norvegicus
LOC100361234

BTG3

1.
Identifier
rs9977638
Cytogenetic Location
21q21.1
UCSC Genome Browser
View 21q21.1 on the UCSC genome browser

Gene details

HGNC symbol
BTG3
Aliases
ANA; TOB5; TOFA; APRO4; TOB55; ANA/BTG3 
Common name
BTG anti-proliferation factor 3 
Description
The protein encoded by this gene is a member of the BTG/Tob family. This family has structurally related proteins that appear to have antiproliferative properties. This encoded protein might play a role in neurogenesis in the central nervous system. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
OMIM
605674
Ensembl
ENSG00000154640
UniProt/Swiss-Prot
BTG3_HUMAN
Entrez Gene
10950
UniGene
473420
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
btg3
Mus musculus
Btg3
Rattus norvegicus
Btg3

In other databases

CellAge
  • This gene is present as BTG3

BTNL2

1.
Identifier
rs3763305
Cytogenetic Location
6p21.32
UCSC Genome Browser
View 6p21.32 on the UCSC genome browser

Gene details

HGNC symbol
BTNL2
Aliases
SS2; BTN7; BTL-II; HSBLMHC1 
Common name
butyrophilin like 2 
Description
OMIM
606000
Ensembl
ENSG00000204290
UniProt/Swiss-Prot
A0PJV4_HUMAN
Entrez Gene
56244
UniGene
534471
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC100332077
Mus musculus
Btnl2
Rattus norvegicus
Btnl2

C2

1.
Identifier
rs1042663
Cytogenetic Location
6p21.33
UCSC Genome Browser
View 6p21.33 on the UCSC genome browser

Gene details

HGNC symbol
C2
Aliases
CO2; ARMD14 
Common name
complement C2 
Description
Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]
OMIM
613927
Ensembl
ENSG00000166278
UniProt/Swiss-Prot
A0A0G2JL69_HUMAN
Entrez Gene
717
UniGene
408903
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
C2

C20orf194

1.
Identifier
rs6115865
Cytogenetic Location
20p13
UCSC Genome Browser
View 20p13 on the UCSC genome browser

Gene details

HGNC symbol
C20orf194
Aliases
 
Common name
chromosome 20 open reading frame 194 
Description
This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]
OMIM
614146
Ensembl
ENSG00000088854
UniProt/Swiss-Prot
CT194_HUMAN
Entrez Gene
25943
UniGene
516853
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
si:ch211-194c3.5
Mus musculus
uncharacterized_Q7TT
Rattus norvegicus
RGD1565616

C20orf78

1.
Identifier
rs6105966
Cytogenetic Location
20p11.23
UCSC Genome Browser
View 20p11.23 on the UCSC genome browser

Gene details

HGNC symbol
C20orf78
Aliases
dJ1068E13.1 
Common name
chromosome 20 open reading frame 78 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
CT078_HUMAN
Entrez Gene
100128496
UniGene
664484
HapMap
View on HapMap

Homologs in model organisms

No homologs found

C9orf3

1.
Identifier
rs1867102
Cytogenetic Location
9q22.32
UCSC Genome Browser
View 9q22.32 on the UCSC genome browser

Gene details

HGNC symbol
C9orf3
Aliases
APO; AP-O; AOPEP; ONPEP; C90RF3 
Common name
chromosome 9 open reading frame 3 
Description
This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
OMIM
Ensembl
ENSG00000148120
UniProt/Swiss-Prot
AMPO_HUMAN
Entrez Gene
84909
UniGene
434253
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
zgc:162939
Mus musculus
Aopep
Rattus norvegicus
Aopep

CADM1

1.
Identifier
rs7127390
Cytogenetic Location
11q23.3
UCSC Genome Browser
View 11q23.3 on the UCSC genome browser

Gene details

HGNC symbol
CADM1
Aliases
BL2; ST17; IGSF4; NECL2; RA175; TSLC1; IGSF4A; Necl-2; SYNCAM; sgIGSF; sTSLC-1; synCAM1 
Common name
cell adhesion molecule 1 
Description
OMIM
605686
Ensembl
ENSG00000182985
UniProt/Swiss-Prot
A0A4Z1_HUMAN
Entrez Gene
23705
UniGene
370510
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
cadm1b
Mus musculus
Cadm1
Rattus norvegicus
Cadm1

CAMTA1

1.
Identifier
rs2032563
Cytogenetic Location
1p36.31-p36.23
UCSC Genome Browser
View 1p36.31-p36.23 on the UCSC genome browser

Gene details

HGNC symbol
CAMTA1
Aliases
CANPMR 
Common name
calmodulin binding transcription activator 1 
Description
The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]
OMIM
611501
Ensembl
ENSG00000171735
UniProt/Swiss-Prot
CMTA1_HUMAN
Entrez Gene
23261
UniGene
397705
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
camta1a
Mus musculus
Camta1
Rattus norvegicus
Camta1

CCDC85A

1.
Identifier
rs1016339
Cytogenetic Location
2p16.1
UCSC Genome Browser
View 2p16.1 on the UCSC genome browser

Gene details

HGNC symbol
CCDC85A
Aliases
 
Common name
coiled-coil domain containing 85A 
Description
OMIM
Ensembl
ENSG00000055813
UniProt/Swiss-Prot
CC85A_HUMAN
Entrez Gene
114800
UniGene
117136
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ccdc85al
Mus musculus
Ccdc85a
Rattus norvegicus
Ccdc85a

CCDC88C

1.
Identifier
rs2277509
Cytogenetic Location
14q32.11-q32.12
UCSC Genome Browser
View 14q32.11-q32.12 on the UCSC genome browser

Gene details

HGNC symbol
CCDC88C
Aliases
DAPLE; HKRP2; SCA40; KIAA1509 
Common name
coiled-coil domain containing 88C 
Description
This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]
OMIM
611204
Ensembl
ENSG00000015133
UniProt/Swiss-Prot
B4DZB8_HUMAN
Entrez Gene
440193
UniGene
525536
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC553231
Drosophila melanogaster
Girdin
Mus musculus
Ccdc88c
Rattus norvegicus
Ccdc88c

CDK14

1.
Identifier
rs7800926
Cytogenetic Location
7q21.13
UCSC Genome Browser
View 7q21.13 on the UCSC genome browser

Gene details

HGNC symbol
CDK14
Aliases
PFTK1; PFTAIRE1 
Common name
cyclin dependent kinase 14 
Description
PFTK1 is a member of the CDC2 (MIM 116940)-related protein kinase family (Yang and Chen, 2001 [PubMed 11313143]).[supplied by OMIM, Mar 2008]
OMIM
610679
Ensembl
ENSG00000058091
UniProt/Swiss-Prot
B4DK59_HUMAN
Entrez Gene
5218
UniGene
258576
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
zgc:172096
Drosophila melanogaster
Eip63E
Mus musculus
Cdk14
Rattus norvegicus
Cdk14

CDK6

1.
Identifier
rs4729049
Cytogenetic Location
7q21.2
UCSC Genome Browser
View 7q21.2 on the UCSC genome browser

Gene details

HGNC symbol
CDK6
Aliases
MCPH12; PLSTIRE 
Common name
cyclin dependent kinase 6 
Description
The protein encoded by this gene is a member of the cyclin-dependent protein kinase (CDK) family. CDK family members are highly similar to the gene products of Saccharomyces cerevisiae cdc28, and Schizosaccharomyces pombe cdc2, and are known to be important regulators of cell cycle progression. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Expression of this gene is up-regulated in some types of cancer. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009]
OMIM
603368
Ensembl
ENSG00000105810
UniProt/Swiss-Prot
CDK6_HUMAN
Entrez Gene
1021
UniGene
119882
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
cdk6
Mus musculus
Cdk6
Rattus norvegicus
Cdk6

In other databases

CellAge
  • This gene is present as CDK6

CDKN2B

1.
Identifier
rs1063192
Cytogenetic Location
9p21.3
UCSC Genome Browser
View 9p21.3 on the UCSC genome browser

Gene details

HGNC symbol
CDKN2B
Aliases
P15; MTS2; TP15; CDK4I; INK4B; p15INK4b 
Common name
cyclin dependent kinase inhibitor 2B 
Description
This gene lies adjacent to the tumor suppressor gene CDKN2A in a region that is frequently mutated and deleted in a wide variety of tumors. This gene encodes a cyclin-dependent kinase inhibitor, which forms a complex with CDK4 or CDK6, and prevents the activation of the CDK kinases, thus the encoded protein functions as a cell growth regulator that controls cell cycle G1 progression. The expression of this gene was found to be dramatically induced by TGF beta, which suggested its role in the TGF beta induced growth inhibition. Two alternatively spliced transcript variants of this gene, which encode distinct proteins, have been reported. [provided by RefSeq, Jul 2008]
OMIM
600431
Ensembl
ENSG00000147883
UniProt/Swiss-Prot
CDN2B_HUMAN
Entrez Gene
1030
UniGene
72901
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC100329528
Mus musculus
Cdkn2b
Rattus norvegicus
Cdkn2b

In other databases

GenAge human genes
  • This gene is present as CDKN2B
CellAge
  • This gene is present as CDKN2B

CDKN2B-AS1

1.
Identifier
rs4977756
Cytogenetic Location
9p21.3
UCSC Genome Browser
View 9p21.3 on the UCSC genome browser
2.
Identifier
rs1412832
Cytogenetic Location
9p21.3
UCSC Genome Browser
View 9p21.3 on the UCSC genome browser

Gene details

HGNC symbol
CDKN2B-AS1
Aliases
ANRIL; p15AS; PCAT12; CDKN2BAS; CDKN2B-AS; NCRNA00089 
Common name
CDKN2B antisense RNA 1 
Description
This gene is located within the CDKN2B-CDKN2A gene cluster at chromosome 9p21. The gene product is a functional RNA molecule that interacts with polycomb repressive complex-1 (PRC1) and -2 (PRC2), leading to epigenetic silencing of other genes in this cluster. This region is a significant genetic susceptibility locus for cardiovascular disease, and has also been linked to a number of other pathologies, including several cancers, intracranial aneurysm, type-2 diabetes, periodontitis, Alzheimer's disease, endometriosis, frailty in the elderly, and glaucoma. Multiple alternatively processed transcript variants have been detected, some of which may take the form of circular RNA molecules (PMID:21151960). [provided by RefSeq, May 2014]
Other longevity studies of this gene
2
OMIM
613149
Ensembl
ENSG00000240498
UniProt/Swiss-Prot
Entrez Gene
100048912
UniGene
493614
HapMap
View on HapMap

Homologs in model organisms

No homologs found

CGNL1

1.
Identifier
rs1280396
Cytogenetic Location
15q21.3
UCSC Genome Browser
View 15q21.3 on the UCSC genome browser

Gene details

HGNC symbol
CGNL1
Aliases
JACOP; PCING 
Common name
cingulin like 1 
Description
This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Nov 2011]
OMIM
607856
Ensembl
ENSG00000128849
UniProt/Swiss-Prot
CGNL1_HUMAN
Entrez Gene
84952
UniGene
148989
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
cgnl1
Mus musculus
Cgnl1
Rattus norvegicus
Cgnl1

CHST11

1.
Identifier
rs1922263
Cytogenetic Location
12q23.3
UCSC Genome Browser
View 12q23.3 on the UCSC genome browser

Gene details

HGNC symbol
CHST11
Aliases
C4ST; C4ST1; C4ST-1; HSA269537 
Common name
carbohydrate sulfotransferase 11 
Description
The protein encoded by this gene belongs to the sulfotransferase 2 family. It is localized to the golgi membrane, and catalyzes the transfer of sulfate to position 4 of the N-acetylgalactosamine (GalNAc) residue of chondroitin. Chondroitin sulfate constitutes the predominant proteoglycan present in cartilage, and is distributed on the surfaces of many cells and extracellular matrices. A chromosomal translocation involving this gene and IgH, t(12;14)(q23;q32), has been reported in a patient with B-cell chronic lymphocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
OMIM
610128
Ensembl
ENSG00000171310
UniProt/Swiss-Prot
A0A024RBL0_HUMAN
Entrez Gene
50515
UniGene
17569
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
chst11
Drosophila melanogaster
CG4826
Mus musculus
Chst11
Rattus norvegicus
Chst11

CLYBL

1.
Identifier
rs9557276
Cytogenetic Location
13q32.3
UCSC Genome Browser
View 13q32.3 on the UCSC genome browser

Gene details

HGNC symbol
CLYBL
Aliases
CLB 
Common name
citrate lyase beta like 
Description
OMIM
609686
Ensembl
ENSG00000125246
UniProt/Swiss-Prot
CLYBL_HUMAN
Entrez Gene
171425
UniGene
655642
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
C01G10.7
Danio rerio
clybl
Mus musculus
Clybl
Rattus norvegicus
Clybl

CMAHP

1.
Identifier
rs303006
Cytogenetic Location
6p22.3
UCSC Genome Browser
View 6p22.3 on the UCSC genome browser

Gene details

HGNC symbol
CMAHP
Aliases
CMAH; CSAH 
Common name
cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene 
Description
Sialic acids are terminal components of the carbohydrate chains of glycoconjugates involved in ligand-receptor, cell-cell, and cell-pathogen interactions. The two most common forms of sialic acid found in mammalian cells are N-acetylneuraminic acid (Neu5Ac) and its hydroxylated derivative, N-glycolylneuraminic acid (Neu5Gc). Studies of sialic acid distribution show that Neu5Gc is not detectable in normal human tissues although it was an abundant sialic acid in other mammals. Neu5Gc is, in actuality, immunogenic in humans. The absense of Neu5Gc in humans is due to a deletion within the human gene CMAH encoding cytidine monophosphate-N-acetylneuraminic acid hydroxylase, an enzyme responsible for Neu5Gc biosynthesis. Sequences encoding the mouse, pig, and chimpanzee hydroxylase enzymes were obtained by cDNA cloning and found to be highly homologous. However, the homologous human cDNA differs from these cDNAs by a 92-bp deletion in the 5' region. This deletion, corresponding to exon 6 of the mouse hydroxylase gene, causes a frameshift mutation and premature termination of the polypeptide chain in human. It seems unlikely that the truncated human hydroxylase mRNA encodes for an active enzyme explaining why Neu5Gc is undetectable in normal human tissues. Human genomic DNA also shows evidence of this deletion which does not occur in the genomes of African great apes. Nonetheless, the CMAH gene maps to 6p21.32 in humans and great apes indicating that mutation of the CMAH gene occurred following human divergence from chimpanzees and bonobos. [provided by RefSeq, Jul 2008]
OMIM
603209
Ensembl
UniProt/Swiss-Prot
Entrez Gene
8418
UniGene
484918
HapMap
View on HapMap

Homologs in model organisms

No homologs found

CSF1R

1.
Identifier
rs216148
Cytogenetic Location
5q32
UCSC Genome Browser
View 5q32 on the UCSC genome browser

Gene details

HGNC symbol
CSF1R
Aliases
FMS; CSFR; FIM2; HDLS; C-FMS; CD115; CSF-1R; M-CSF-R 
Common name
colony stimulating factor 1 receptor 
Description
The protein encoded by this gene is the receptor for colony stimulating factor 1, a cytokine which controls the production, differentiation, and function of macrophages. This receptor mediates most if not all of the biological effects of this cytokine. Ligand binding activates the receptor kinase through a process of oligomerization and transphosphorylation. The encoded protein is a tyrosine kinase transmembrane receptor and member of the CSF1/PDGF receptor family of tyrosine-protein kinases. Mutations in this gene have been associated with a predisposition to myeloid malignancy. The first intron of this gene contains a transcriptionally inactive ribosomal protein L7 processed pseudogene oriented in the opposite direction. Alternative splicing results in multiple transcript variants. Expression of a splice variant from an LTR promoter has been found in Hodgkin lymphoma (HL), HL cell lines and anaplastic large cell lymphoma. [provided by RefSeq, Mar 2017]
OMIM
164770
Ensembl
ENSG00000182578
UniProt/Swiss-Prot
CSF1R_HUMAN
Entrez Gene
1436
UniGene
586219
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
csf1rb
Mus musculus
Csf1r
Rattus norvegicus
Csf1r

CSMD3

1.
Identifier
rs7013313
Cytogenetic Location
8q23.3
UCSC Genome Browser
View 8q23.3 on the UCSC genome browser

Gene details

HGNC symbol
CSMD3
Aliases
 
Common name
CUB and Sushi multiple domains 3 
Description
OMIM
608399
Ensembl
ENSG00000164796
UniProt/Swiss-Prot
CSMD3_HUMAN
Entrez Gene
114788
UniGene
91381
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Csmd3
Rattus norvegicus
Csmd3

CTNNA2

1.
Identifier
rs723525
Cytogenetic Location
2p12
UCSC Genome Browser
View 2p12 on the UCSC genome browser
2.
Identifier
rs4541274
Cytogenetic Location
2p12
UCSC Genome Browser
View 2p12 on the UCSC genome browser

Gene details

HGNC symbol
CTNNA2
Aliases
CAPR; CTNR; CAP-R; CT114 
Common name
catenin alpha 2 
Description
Other longevity studies of this gene
1
OMIM
114025
Ensembl
ENSG00000066032
UniProt/Swiss-Prot
CTNA2_HUMAN
Entrez Gene
1496
UniGene
167368
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
Ctnna2
Mus musculus
Ctnna2
Rattus norvegicus
Ctnna2

CTNNA3

1.
Identifier
rs10509271
Cytogenetic Location
10q21.3
UCSC Genome Browser
View 10q21.3 on the UCSC genome browser

Gene details

HGNC symbol
CTNNA3
Aliases
VR22; ARVD13 
Common name
catenin alpha 3 
Description
This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Other longevity studies of this gene
1
OMIM
607667
Ensembl
ENSG00000183230
UniProt/Swiss-Prot
A8K141_HUMAN
Entrez Gene
29119
UniGene
21375
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
hmp-1
Mus musculus
Ctnna3

CTNND2

1.
Identifier
rs1860242
Cytogenetic Location
5p15.2
UCSC Genome Browser
View 5p15.2 on the UCSC genome browser

Gene details

HGNC symbol
CTNND2
Aliases
GT24; NPRAP 
Common name
catenin delta 2 
Description
This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
OMIM
604275
Ensembl
ENSG00000169862
UniProt/Swiss-Prot
B4DJU1_HUMAN
Entrez Gene
1501
UniGene
314543
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ctnnd2a
Mus musculus
Ctnnd2

DCPS

1.
Identifier
rs651922
Cytogenetic Location
11q24.2
UCSC Genome Browser
View 11q24.2 on the UCSC genome browser

Gene details

HGNC symbol
DCPS
Aliases
ARS; DCS1; HSL1; HINT5; HINT-5; HSPC015 
Common name
decapping enzyme, scavenger 
Description
This gene encodes a member of the histidine triad family of pyrophosphatases that removes short mRNA fragments containing the 5′ mRNA cap structure, which appear in the 3′ → 5′ mRNA decay pathway, following deadenylation and exosome-mediated turnover. This enzyme hydrolyzes the triphosphate linkage of the cap structure (7-methylguanosine nucleoside triphosphate) to yield 7-methylguanosine monophosphate and nucleoside diphosphate. It protects the cell from the potentially toxic accumulation of these short, capped mRNA fragments, and regulates the activity of other cap-binding proteins, which are inhibited by their accumulation. It also acts as a transcript-specific modulator of pre-mRNA splicing and microRNA turnover. [provided by RefSeq, Apr 2017]
OMIM
610534
Ensembl
ENSG00000110063
UniProt/Swiss-Prot
DCPS_HUMAN
Entrez Gene
28960
UniGene
504249
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
dcs-1
Danio rerio
dcps
Drosophila melanogaster
CG2091
Mus musculus
Dcps
Rattus norvegicus
Dcps
Saccharomyces cerevisiae
DCS1
Schizosaccharomyces pombe
nhm1

DLGAP5

1.
Identifier
rs8003961
Cytogenetic Location
14q22.3
UCSC Genome Browser
View 14q22.3 on the UCSC genome browser

Gene details

HGNC symbol
DLGAP5
Aliases
DLG7; HURP 
Common name
DLG associated protein 5 
Description
OMIM
Ensembl
ENSG00000126787
UniProt/Swiss-Prot
DLGP5_HUMAN
Entrez Gene
9787
UniGene
77695
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
dlgap5
Mus musculus
Dlgap5
Rattus norvegicus
Dlgap5

DOCK2

1.
Identifier
rs262883
Cytogenetic Location
5q35.1
UCSC Genome Browser
View 5q35.1 on the UCSC genome browser

Gene details

HGNC symbol
DOCK2
Aliases
IMD40 
Common name
dedicator of cytokinesis 2 
Description
The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP. [provided by RefSeq, Oct 2016]
OMIM
603122
Ensembl
ENSG00000134516
UniProt/Swiss-Prot
DOCK2_HUMAN
Entrez Gene
1794
UniGene
586174
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
dock2
Drosophila melanogaster
mbc
Mus musculus
Dock2

DOCK8

1.
Identifier
rs750586
Cytogenetic Location
9p24.3
UCSC Genome Browser
View 9p24.3 on the UCSC genome browser

Gene details

HGNC symbol
DOCK8
Aliases
MRD2; ZIR8; HEL-205 
Common name
dedicator of cytokinesis 8 
Description
This gene encodes a member of the DOCK180 family of guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with Rho GTPases and are components of intracellular signaling networks. Mutations in this gene result in the autosomal recessive form of the hyper-IgE syndrome. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jun 2010]
OMIM
611432
Ensembl
ENSG00000107099
UniProt/Swiss-Prot
DOCK8_HUMAN
Entrez Gene
81704
UniGene
132599
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_F46H5.4
Danio rerio
dock8
Drosophila melanogaster
Zir
Mus musculus
Dock8
Rattus norvegicus
Dock8

DSG1-AS1

1.
Identifier
rs1991289
Cytogenetic Location
18q12.1
UCSC Genome Browser
View 18q12.1 on the UCSC genome browser

Gene details

HGNC symbol
DSG1-AS1
Aliases
 
Common name
DSG1 antisense RNA 1 
Description
OMIM
Ensembl
ENSG00000266729
UniProt/Swiss-Prot
Entrez Gene
101927718
UniGene
625473
HapMap
View on HapMap

Homologs in model organisms

No homologs found

DZIP3

1.
Identifier
rs1377843
Cytogenetic Location
3q13.13
UCSC Genome Browser
View 3q13.13 on the UCSC genome browser

Gene details

HGNC symbol
DZIP3
Aliases
UURF2; PPP1R66; hRUL138 
Common name
DAZ interacting zinc finger protein 3 
Description
OMIM
608672
Ensembl
ENSG00000198919
UniProt/Swiss-Prot
DZIP3_HUMAN
Entrez Gene
9666
UniGene
409210
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ttc3
Mus musculus
Dzip3
Rattus norvegicus
Dzip3

EBF3

1.
Identifier
rs4751140
Cytogenetic Location
10q26.3
UCSC Genome Browser
View 10q26.3 on the UCSC genome browser

Gene details

HGNC symbol
EBF3
Aliases
COE3; OE-2; EBF-3; HADDS; O/E-2 
Common name
early B-cell factor 3 
Description
This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]
OMIM
607407
Ensembl
ENSG00000108001
UniProt/Swiss-Prot
COE3_HUMAN
Entrez Gene
253738
UniGene
591374
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Ebf3
Rattus norvegicus
Ebf3

EIF4E3

1.
Identifier
rs12629971
Cytogenetic Location
3p13
UCSC Genome Browser
View 3p13 on the UCSC genome browser
2.
Identifier
rs6801173
Cytogenetic Location
3p13
UCSC Genome Browser
View 3p13 on the UCSC genome browser

Gene details

HGNC symbol
EIF4E3
Aliases
eIF-4E3; eIF4E-3 
Common name
eukaryotic translation initiation factor 4E family member 3 
Description
EIF4E3 belongs to the EIF4E family of translational initiation factors that interact with the 5-prime cap structure of mRNA and recruit mRNA to the ribosome (Joshi et al., 2004 [PubMed 15153109]).[supplied by OMIM, Mar 2008]
Other longevity studies of this gene
1
OMIM
609896
Ensembl
ENSG00000163412
UniProt/Swiss-Prot
IF4E3_HUMAN
Entrez Gene
317649
UniGene
581355
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
eif4e3
Mus musculus
Eif4e3
Rattus norvegicus
Eif4e3

ENOX1

1.
Identifier
rs7319813
Cytogenetic Location
13q14.11
UCSC Genome Browser
View 13q14.11 on the UCSC genome browser
2.
Identifier
rs7318601
Cytogenetic Location
13q14.11
UCSC Genome Browser
View 13q14.11 on the UCSC genome browser

Gene details

HGNC symbol
ENOX1
Aliases
CNOX; PIG38; cCNOX; bA64J21.1 
Common name
ecto-NOX disulfide-thiol exchanger 1 
Description
The protein encoded by this gene is involved in plasma membrane electron transport pathways. The encoded protein has both a hydroquinone (NADH) oxidase activity and a protein disulfide-thiol interchange activity. The two activities cycle with a periodicity of 24 minutes, with one activity being at its peak when the other is at its lowest. [provided by RefSeq, Dec 2016]
Other longevity studies of this gene
1
OMIM
610914
Ensembl
ENSG00000120658
UniProt/Swiss-Prot
A0A024RDT8_HUMAN
Entrez Gene
55068
UniGene
128258
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
enox1
Drosophila melanogaster
CG10948
Mus musculus
Enox1
Rattus norvegicus
Enox1

EPB41L4B

1.
Identifier
rs10512392
Cytogenetic Location
9q31.3
UCSC Genome Browser
View 9q31.3 on the UCSC genome browser

Gene details

HGNC symbol
EPB41L4B
Aliases
CG1; EHM2 
Common name
erythrocyte membrane protein band 4.1 like 4B 
Description
OMIM
610340
Ensembl
ENSG00000095203
UniProt/Swiss-Prot
E41LB_HUMAN
Entrez Gene
54566
UniGene
591901
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
frm-2
Mus musculus
Epb41l4b
Rattus norvegicus
Epb41l4b

EQTN

1.
Identifier
rs2383722
Cytogenetic Location
9p21.2
UCSC Genome Browser
View 9p21.2 on the UCSC genome browser

Gene details

HGNC symbol
EQTN
Aliases
AFAF; SPACA8; C9orf11 
Common name
equatorin 
Description
OMIM
Ensembl
ENSG00000120160
UniProt/Swiss-Prot
EQTN_HUMAN
Entrez Gene
54586
UniGene
163070
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Eqtn
Rattus norvegicus
Eqtn

ERGIC1

1.
Identifier
rs793017
Cytogenetic Location
5q35.1
UCSC Genome Browser
View 5q35.1 on the UCSC genome browser

Gene details

HGNC symbol
ERGIC1
Aliases
NET24; ERGIC32; ERGIC-32 
Common name
endoplasmic reticulum-golgi intermediate compartment 1 
Description
This gene encodes a cycling membrane protein which is an endoplasmic reticulum-golgi intermediate compartment (ERGIC) protein which interacts with other members of this protein family to increase their turnover. [provided by RefSeq, Jul 2008]
OMIM
Ensembl
ENSG00000113719
UniProt/Swiss-Prot
ERGI1_HUMAN
Entrez Gene
57222
UniGene
509163
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_Y102A11A.6
Danio rerio
ergic1
Mus musculus
Ergic1
Rattus norvegicus
Ergic1

ESRRG

1.
Identifier
rs17044026
Cytogenetic Location
1q41
UCSC Genome Browser
View 1q41 on the UCSC genome browser

Gene details

HGNC symbol
ESRRG
Aliases
ERR3; NR3B3; ERRgamma 
Common name
estrogen related receptor gamma 
Description
This gene encodes a member of the estrogen receptor-related receptor (ESRR) family, which belongs to the nuclear hormone receptor superfamily. All members of the ESRR family share an almost identical DNA binding domain, which is composed of two C4-type zinc finger motifs. The ESRR members are orphan nuclear receptors; they bind to the estrogen response element and steroidogenic factor 1 response element, and activate genes controlled by both response elements in the absence of any ligands. The ESRR family is closely related to the estrogen receptor (ER) family. They share target genes, co-regulators and promoters, and by targeting the same set of genes, the ESRRs seem to interfere with the ER-mediated estrogen response in various ways. It has been reported that the family member encoded by this gene functions as a transcriptional activator of DNA cytosine-5-methyltransferases 1 (Dnmt1) expression by direct binding to its response elements in the DNMT1 promoters, modulates cell proliferation and estrogen signaling in breast cancer, and negatively regulates bone morphogenetic protein 2-induced osteoblast differentiation and bone formation. Multiple alternatively spliced transcript variants have been identified, which mainly differ at the 5' end and some of which encode protein isoforms differing in the N-terminal region. [provided by RefSeq, Aug 2011]
OMIM
602969
Ensembl
ENSG00000196482
UniProt/Swiss-Prot
B7Z5E9_HUMAN
Entrez Gene
2104
UniGene
444225
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
esrrga
Mus musculus
Esrrg
Rattus norvegicus
Esrrg

FAS

1.
Identifier
rs982764
Cytogenetic Location
10q23.31
UCSC Genome Browser
View 10q23.31 on the UCSC genome browser

Gene details

HGNC symbol
FAS
Aliases
APT1; CD95; FAS1; APO-1; FASTM; ALPS1A; TNFRSF6 
Common name
Fas cell surface death receptor 
Description
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]
Other longevity studies of this gene
1
OMIM
134637
Ensembl
ENSG00000026103
UniProt/Swiss-Prot
K9J972_HUMAN
Entrez Gene
355
UniGene
244139
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
fas
Mus musculus
Fas
Rattus norvegicus
Fas

In other databases

GenAge human genes
  • This gene is present as FAS

FGFR1

1.
Identifier
rs7825208
Cytogenetic Location
8p11.23
UCSC Genome Browser
View 8p11.23 on the UCSC genome browser

Gene details

HGNC symbol
FGFR1
Aliases
CEK; FLG; HH2; OGD; ECCL; FLT2; KAL2; BFGFR; CD331; FGFBR; FLT-2; HBGFR; N-SAM; FGFR-1; HRTFDS; bFGF-R-1 
Common name
fibroblast growth factor receptor 1 
Description
The protein encoded by this gene is a member of the fibroblast growth factor receptor (FGFR) family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds both acidic and basic fibroblast growth factors and is involved in limb induction. Mutations in this gene have been associated with Pfeiffer syndrome, Jackson-Weiss syndrome, Antley-Bixler syndrome, osteoglophonic dysplasia, and autosomal dominant Kallmann syndrome 2. Chromosomal aberrations involving this gene are associated with stem cell myeloproliferative disorder and stem cell leukemia lymphoma syndrome. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
OMIM
136350
Ensembl
ENSG00000077782
UniProt/Swiss-Prot
A0A0S2Z3Q6_HUMAN
Entrez Gene
2260
UniGene
264887
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
fgfr1a
Mus musculus
Fgfr1
Rattus norvegicus
Fgfr1

In other databases

GenAge human genes
  • This gene is present as FGFR1

FHIT

1.
Identifier
rs10510828
Cytogenetic Location
3p14.2
UCSC Genome Browser
View 3p14.2 on the UCSC genome browser

Gene details

HGNC symbol
FHIT
Aliases
FRA3B; AP3Aase 
Common name
fragile histidine triad 
Description
This gene, a member of the histidine triad gene family, encodes a diadenosine 5',5'''-P1,P3-triphosphate hydrolase involved in purine metabolism. The gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts of this gene. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
OMIM
601153
Ensembl
ENSG00000189283
UniProt/Swiss-Prot
A0A024R366_HUMAN
Entrez Gene
2272
UniGene
655995
HapMap
View on HapMap

Homologs in model organisms

No homologs found

GATA4

1.
Identifier
rs804283
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser

Gene details

HGNC symbol
GATA4
Aliases
TOF; ASD2; VSD1; TACHD 
Common name
GATA binding protein 4 
Description
This gene encodes a member of the GATA family of zinc-finger transcription factors. Members of this family recognize the GATA motif which is present in the promoters of many genes. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function, and is necessary for normal testicular development. Mutations in this gene have been associated with cardiac septal defects. Additionally, alterations in gene expression have been associated with several cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
OMIM
600576
Ensembl
ENSG00000136574
UniProt/Swiss-Prot
B3KUF4_HUMAN
Entrez Gene
2626
UniGene
243987
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
gata4
Mus musculus
Gata4
Rattus norvegicus
Gata4

In other databases

CellAge
  • This gene is present as GATA4

GBA3

1.
Identifier
rs358256
Cytogenetic Location
4p15.2
UCSC Genome Browser
View 4p15.2 on the UCSC genome browser

Gene details

HGNC symbol
GBA3
Aliases
CBG; GLUC; KLRP; CBGL1 
Common name
glucosylceramidase beta 3 (gene/pseudogene) 
Description
The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013]
OMIM
606619
Ensembl
ENSG00000249948
UniProt/Swiss-Prot
A8K9N1_HUMAN
Entrez Gene
57733
UniGene
653107
HapMap
View on HapMap

Homologs in model organisms

Rattus norvegicus
Gba3

GPC6

1.
Identifier
rs17702471
Cytogenetic Location
13q31.3-q32.1
UCSC Genome Browser
View 13q31.3-q32.1 on the UCSC genome browser

Gene details

HGNC symbol
GPC6
Aliases
OMIMD1 
Common name
glypican 6 
Description
The glypicans comprise a family of glycosylphosphatidylinositol-anchored heparan sulfate proteoglycans, and they have been implicated in the control of cell growth and cell division. The glypican encoded by this gene is a putative cell surface coreceptor for growth factors, extracellular matrix proteins, proteases and anti-proteases. Mutations in this gene are associated with omodysplasia 1. [provided by RefSeq, Nov 2016]
OMIM
604404
Ensembl
ENSG00000183098
UniProt/Swiss-Prot
GPC6_HUMAN
Entrez Gene
10082
UniGene
444329
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Gpc6

GSG1L

1.
Identifier
rs933664
Cytogenetic Location
16p12.1
UCSC Genome Browser
View 16p12.1 on the UCSC genome browser

Gene details

HGNC symbol
GSG1L
Aliases
PRO19651 
Common name
GSG1 like 
Description
OMIM
617161
Ensembl
ENSG00000169181
UniProt/Swiss-Prot
B3KY67_HUMAN
Entrez Gene
146395
UniGene
91910
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
gsg1l
Mus musculus
Gsg1l
Rattus norvegicus
Gsg1l

HS3ST3B1

1.
Identifier
rs1005321
Cytogenetic Location
17p12
UCSC Genome Browser
View 17p12 on the UCSC genome browser

Gene details

HGNC symbol
HS3ST3B1
Aliases
3OST3B1; 3-OST-3B; h3-OST-3B 
Common name
heparan sulfate-glucosamine 3-sulfotransferase 3B1 
Description
The protein encoded by this gene is a type II integral membrane protein that belongs to the 3-O-sulfotransferases family. These proteins catalyze the addition of sulfate groups at the 3-OH position of glucosamine in heparan sulfate. The substrate specificity of individual members of the family is based on prior modification of the heparan sulfate chain, thus allowing different members of the family to generate binding sites for different proteins on the same heparan sulfate chain. Following treatment with a histone deacetylase inhibitor, expression of this gene is activated in a pancreatic cell line. The increased expression results in promotion of the epithelial-mesenchymal transition. In addition, the modification catalyzed by this protein allows herpes simplex virus membrane fusion and penetration. A very closely related homolog with an almost identical sulfotransferase domain maps less than 1 Mb away. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
OMIM
604058
Ensembl
ENSG00000125430
UniProt/Swiss-Prot
HS3SB_HUMAN
Entrez Gene
9953
UniGene
48384
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
hs3st3b1b
Mus musculus
Hs3st3b1
Rattus norvegicus
Hs3st3b1

HTR1F

1.
Identifier
rs1503434
Cytogenetic Location
3p11.2-p11.1
UCSC Genome Browser
View 3p11.2-p11.1 on the UCSC genome browser

Gene details

HGNC symbol
HTR1F
Aliases
5HT6; MR77; 5-HT1F; HTR1EL; 5-HT-1F 
Common name
5-hydroxytryptamine receptor 1F 
Description
OMIM
182134
Ensembl
ENSG00000179097
UniProt/Swiss-Prot
5HT1F_HUMAN
Entrez Gene
3355
UniGene
248136
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
htr1fa
Mus musculus
Htr1f
Rattus norvegicus
Htr1f

IL12A

1.
Identifier
rs2243115
Cytogenetic Location
3q25.33
UCSC Genome Browser
View 3q25.33 on the UCSC genome browser

Gene details

HGNC symbol
IL12A
Aliases
P35; CLMF; NFSK; NKSF1; IL-12A 
Common name
interleukin 12A 
Description
This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
161560
Ensembl
ENSG00000168811
UniProt/Swiss-Prot
IL12A_HUMAN
Entrez Gene
3592
UniGene
673
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
il12a
Mus musculus
Il12a
Rattus norvegicus
Il12a

ITGA1

1.
Identifier
rs2432143
Cytogenetic Location
5q11.2
UCSC Genome Browser
View 5q11.2 on the UCSC genome browser

Gene details

HGNC symbol
ITGA1
Aliases
VLA1; CD49a 
Common name
integrin subunit alpha 1 
Description
This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]
OMIM
192968
Ensembl
ENSG00000213949
UniProt/Swiss-Prot
ITA1_HUMAN
Entrez Gene
3672
UniGene
644352
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
itga1
Mus musculus
Itga1
Rattus norvegicus
Itga1

KCTD1

1.
Identifier
rs9304496
Cytogenetic Location
18q11.2
UCSC Genome Browser
View 18q11.2 on the UCSC genome browser

Gene details

HGNC symbol
KCTD1
Aliases
SENS; C18orf5 
Common name
potassium channel tetramerization domain containing 1 
Description
OMIM
613420
Ensembl
ENSG00000134504
UniProt/Swiss-Prot
A0A024RC45_HUMAN
Entrez Gene
284252
UniGene
526630
HapMap
View on HapMap

Homologs in model organisms

Drosophila melanogaster
CG10440
Mus musculus
Kctd1
Rattus norvegicus
Kctd1

KIF13B

1.
Identifier
rs6991271
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser

Gene details

HGNC symbol
KIF13B
Aliases
GAKIN 
Common name
kinesin family member 13B 
Description
OMIM
607350
Ensembl
ENSG00000197892
UniProt/Swiss-Prot
KI13B_HUMAN
Entrez Gene
23303
UniGene
444767
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
klp-4
Danio rerio
kif13ba
Drosophila melanogaster
Khc-73
Mus musculus
Kif13b
Rattus norvegicus
Kif13b

KLRF1

1.
Identifier
rs2232548
Cytogenetic Location
12p13.31
UCSC Genome Browser
View 12p13.31 on the UCSC genome browser

Gene details

HGNC symbol
KLRF1
Aliases
NKp80; CLEC5C 
Common name
killer cell lectin like receptor F1 
Description
KLRF1, an activating homodimeric C-type lectin-like receptor (CTLR), is expressed on nearly all natural killer (NK) cells and stimulates their cytoxicity and cytokine release (Kuttruff et al., 2009 [PubMed 18922855]).[supplied by OMIM, Oct 2009]
OMIM
605029
Ensembl
ENSG00000150045
UniProt/Swiss-Prot
A0A0C4DFN7_HUMAN
Entrez Gene
51348
UniGene
183125
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LARGE1

1.
Identifier
rs5754682
Cytogenetic Location
22q12.3
UCSC Genome Browser
View 22q12.3 on the UCSC genome browser

Gene details

HGNC symbol
LARGE1
Aliases
LARGE; MDC1D; MDDGA6; MDDGB6 
Common name
LARGE xylosyl- and glucuronyltransferase 1 
Description
This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]
OMIM
603590
Ensembl
ENSG00000133424
UniProt/Swiss-Prot
LARG1_HUMAN
Entrez Gene
9215
UniGene
474667
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
large
Mus musculus
Large

LINC00032

1.
Identifier
rs997675
Cytogenetic Location
9p21.2
UCSC Genome Browser
View 9p21.2 on the UCSC genome browser

Gene details

HGNC symbol
LINC00032
Aliases
C9orf14; NCRNA00032 
Common name
long intergenic non-protein coding RNA 32 
Description
OMIM
Ensembl
ENSG00000283945
UniProt/Swiss-Prot
Entrez Gene
158035
UniGene
201554
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LINC01182

1.
Identifier
rs10084768
Cytogenetic Location
4p15.33
UCSC Genome Browser
View 4p15.33 on the UCSC genome browser

Gene details

HGNC symbol
LINC01182
Aliases
 
Common name
long intergenic non-protein coding RNA 1182 
Description
OMIM
Ensembl
ENSG00000250634
UniProt/Swiss-Prot
Entrez Gene
101929071
UniGene
543714
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LINC01234

1.
Identifier
rs336264
Cytogenetic Location
12q24.13
UCSC Genome Browser
View 12q24.13 on the UCSC genome browser

Gene details

HGNC symbol
LINC01234
Aliases
LCAL84; onco-lncRNA-32 
Common name
long intergenic non-protein coding RNA 1234 
Description
OMIM
Ensembl
ENSG00000249550
UniProt/Swiss-Prot
Entrez Gene
100506465
UniGene
211461
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LINC01250

1.
Identifier
rs10210870
Cytogenetic Location
2p25.3
UCSC Genome Browser
View 2p25.3 on the UCSC genome browser

Gene details

HGNC symbol
LINC01250
Aliases
 
Common name
long intergenic non-protein coding RNA 1250 
Description
OMIM
Ensembl
ENSG00000234423
UniProt/Swiss-Prot
Entrez Gene
101927554
UniGene
638446
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LINC01258

1.
Identifier
rs4073968
Cytogenetic Location
4p14
UCSC Genome Browser
View 4p14 on the UCSC genome browser

Gene details

HGNC symbol
LINC01258
Aliases
 
Common name
long intergenic non-protein coding RNA 1258 
Description
OMIM
Ensembl
ENSG00000249534
UniProt/Swiss-Prot
Entrez Gene
101928776
UniGene
586147
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LINC02032

1.
Identifier
rs15606
Cytogenetic Location
3q24
UCSC Genome Browser
View 3q24 on the UCSC genome browser

Gene details

HGNC symbol
LINC02032
Aliases
 
Common name
long intergenic non-protein coding RNA 2032 
Description
OMIM
Ensembl
ENSG00000241131
UniProt/Swiss-Prot
Entrez Gene
100507461
UniGene
112623
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LINC02045

1.
Identifier
rs1456669
Cytogenetic Location
3q24
UCSC Genome Browser
View 3q24 on the UCSC genome browser

Gene details

HGNC symbol
LINC02045
Aliases
 
Common name
long intergenic non-protein coding RNA 2045 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105374146
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LINC02095

1.
Identifier
rs3803833
Cytogenetic Location
17q24.3
UCSC Genome Browser
View 17q24.3 on the UCSC genome browser

Gene details

HGNC symbol
LINC02095
Aliases
 
Common name
long intergenic non-protein coding RNA 2095 
Description
OMIM
Ensembl
ENSG00000228639
UniProt/Swiss-Prot
Entrez Gene
102723505
UniGene
547482
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LINC02391

1.
Identifier
rs337656
Cytogenetic Location
12q22
UCSC Genome Browser
View 12q22 on the UCSC genome browser

Gene details

HGNC symbol
LINC02391
Aliases
 
Common name
long intergenic non-protein coding RNA 2391 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
101930023
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LINC02463

1.
Identifier
rs697887
Cytogenetic Location
12q24.21
UCSC Genome Browser
View 12q24.21 on the UCSC genome browser

Gene details

HGNC symbol
LINC02463
Aliases
 
Common name
long intergenic non-protein coding RNA 2463 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105370004
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LINGO2

1.
Identifier
rs7853840
Cytogenetic Location
9p21.2-p21.1
UCSC Genome Browser
View 9p21.2-p21.1 on the UCSC genome browser

Gene details

HGNC symbol
LINGO2
Aliases
LERN3; LRRN6C 
Common name
leucine rich repeat and Ig domain containing 2 
Description
OMIM
609793
Ensembl
ENSG00000174482
UniProt/Swiss-Prot
LIGO2_HUMAN
Entrez Gene
158038
UniGene
444665
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
sc:d0348
Mus musculus
Lingo2
Rattus norvegicus
Lingo2

LMNA

1.
Identifier
rs915179
In Other Studies (IDs)
549
Cytogenetic Location
1q22
UCSC Genome Browser
View 1q22 on the UCSC genome browser

Gene details

HGNC symbol
LMNA
Aliases
FPL; IDC; LFP; CDDC; EMD2; FPLD; HGPS; LDP1; LMN1; LMNC; MADA; PRO1; CDCD1; CMD1A; FPLD2; LMNL1; CMT2B1; LGMD1B 
Common name
lamin A/C 
Description
The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
Other longevity studies of this gene
12
OMIM
150330
Ensembl
ENSG00000160789
UniProt/Swiss-Prot
LMNA_HUMAN
Entrez Gene
4000
UniGene
594444
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
lmn-1
Danio rerio
lmna
Drosophila melanogaster
LamC
Mus musculus
Lmna
Rattus norvegicus
Lmna

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as lmn-1
  • A homolog of this gene for Mus musculus is present as Lmna
GenAge human genes
  • This gene is present as LMNA

LMX1B

1.
Identifier
rs3906146
Cytogenetic Location
9q33.3
UCSC Genome Browser
View 9q33.3 on the UCSC genome browser

Gene details

HGNC symbol
LMX1B
Aliases
NPS1; LMX1.2 
Common name
LIM homeobox transcription factor 1 beta 
Description
This gene encodes a member of LIM-homeodomain family of proteins containing two N-terminal zinc-binding LIM domains, 1 homeodomain, and a C-terminal glutamine-rich domain. It functions as a transcription factor, and is essential for the normal development of dorsal limb structures, the glomerular basement membrane, the anterior segment of the eye, and dopaminergic and serotonergic neurons. Mutations in this gene are associated with nail-patella syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]
OMIM
602575
Ensembl
ENSG00000136944
UniProt/Swiss-Prot
B7ZLH2_HUMAN
Entrez Gene
4010
UniGene
129133
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
lmx1bb
Drosophila melanogaster
CG4328-RA
Mus musculus
Lmx1b
Rattus norvegicus
Lmx1b

LOC101927668

1.
Identifier
rs2158860
Cytogenetic Location
7p21.1
UCSC Genome Browser
View 7p21.1 on the UCSC genome browser

Gene details

HGNC symbol
LOC101927668
Aliases
 
Common name
uncharacterized LOC101927668 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
101927668
UniGene
715900
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC102723654

1.
Identifier
rs2312243
Cytogenetic Location
5q23.3
UCSC Genome Browser
View 5q23.3 on the UCSC genome browser

Gene details

HGNC symbol
LOC102723654
Aliases
 
Common name
uncharacterized LOC102723654 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
102723654
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC102723834

1.
Identifier
rs12044217
Cytogenetic Location
1q42.12
UCSC Genome Browser
View 1q42.12 on the UCSC genome browser

Gene details

HGNC symbol
LOC102723834
Aliases
 
Common name
uncharacterized LOC102723834 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
102723834
UniGene
634554
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC105370031

1.
Identifier
rs1796412
Cytogenetic Location
12q24.31
UCSC Genome Browser
View 12q24.31 on the UCSC genome browser

Gene details

HGNC symbol
LOC105370031
Aliases
 
Common name
uncharacterized LOC105370031 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105370031
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC105370656

1.
Identifier
rs7149754
Cytogenetic Location
14q32.2
UCSC Genome Browser
View 14q32.2 on the UCSC genome browser

Gene details

HGNC symbol
LOC105370656
Aliases
 
Common name
uncharacterized LOC105370656 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105370656
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC105372161

1.
Identifier
rs2061450
Cytogenetic Location
18q21.33
UCSC Genome Browser
View 18q21.33 on the UCSC genome browser

Gene details

HGNC symbol
LOC105372161
Aliases
 
Common name
uncharacterized LOC105372161 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105372161
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC105373215

1.
Identifier
rs6657655
Cytogenetic Location
1q42.3
UCSC Genome Browser
View 1q42.3 on the UCSC genome browser

Gene details

HGNC symbol
LOC105373215
Aliases
 
Common name
uncharacterized LOC105373215 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105373215
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC105373220

1.
Identifier
rs12737127
Cytogenetic Location
1q43
UCSC Genome Browser
View 1q43 on the UCSC genome browser

Gene details

HGNC symbol
LOC105373220
Aliases
 
Common name
uncharacterized LOC105373220 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105373220
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC105373714

1.
Identifier
rs4363980
Cytogenetic Location
2q24.1
UCSC Genome Browser
View 2q24.1 on the UCSC genome browser

Gene details

HGNC symbol
LOC105373714
Aliases
 
Common name
uncharacterized LOC105373714 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105373714
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC105375731

1.
Identifier
rs10505391
Cytogenetic Location
8q24.12
UCSC Genome Browser
View 8q24.12 on the UCSC genome browser

Gene details

HGNC symbol
LOC105375731
Aliases
 
Common name
uncharacterized LOC105375731 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105375731
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC105377739

1.
Identifier
rs923520
Cytogenetic Location
5q35.2
UCSC Genome Browser
View 5q35.2 on the UCSC genome browser

Gene details

HGNC symbol
LOC105377739
Aliases
 
Common name
uncharacterized LOC105377739 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105377739
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC105377865

1.
Identifier
rs1395451
Cytogenetic Location
6q14.1
UCSC Genome Browser
View 6q14.1 on the UCSC genome browser

Gene details

HGNC symbol
LOC105377865
Aliases
 
Common name
uncharacterized LOC105377865 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105377865
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC105378178

1.
Identifier
rs10140519
Cytogenetic Location
14q21.3
UCSC Genome Browser
View 14q21.3 on the UCSC genome browser

Gene details

HGNC symbol
LOC105378178
Aliases
 
Common name
uncharacterized LOC105378178 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105378178
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC105378852

1.
Identifier
rs954472
Cytogenetic Location
1p22.2
UCSC Genome Browser
View 1p22.2 on the UCSC genome browser

Gene details

HGNC symbol
LOC105378852
Aliases
 
Common name
uncharacterized LOC105378852 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105378852
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC107984303

1.
Identifier
rs4237774
Cytogenetic Location
11p15.4
UCSC Genome Browser
View 11p15.4 on the UCSC genome browser

Gene details

HGNC symbol
LOC107984303
Aliases
 
Common name
uncharacterized LOC107984303 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
107984303
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC107985305

1.
Identifier
rs4802234
Cytogenetic Location
19q13.31-q13.32
UCSC Genome Browser
View 19q13.31-q13.32 on the UCSC genome browser

Gene details

HGNC symbol
LOC107985305
Aliases
 
Common name
uncharacterized LOC107985305 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
107985305
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC107985988

1.
Identifier
rs1463990
Cytogenetic Location
2q36.1
UCSC Genome Browser
View 2q36.1 on the UCSC genome browser

Gene details

HGNC symbol
LOC107985988
Aliases
 
Common name
uncharacterized LOC107985988 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
107985988
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC107986178

1.
Identifier
rs2201186
Cytogenetic Location
4p15.33
UCSC Genome Browser
View 4p15.33 on the UCSC genome browser
2.
Identifier
rs3886917
Cytogenetic Location
4p15.33
UCSC Genome Browser
View 4p15.33 on the UCSC genome browser

Gene details

HGNC symbol
LOC107986178
Aliases
 
Common name
uncharacterized LOC107986178 
Description
Other longevity studies of this gene
1
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
107986178
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC341056

1.
Identifier
rs11218921
Cytogenetic Location
11q24.1
UCSC Genome Browser
View 11q24.1 on the UCSC genome browser

Gene details

HGNC symbol
LOC341056
Aliases
 
Common name
SUMO1 activating enzyme subunit 1 pseudogene 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
341056
UniGene
620309
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC387770

1.
Identifier
rs4570560
Cytogenetic Location
11p11.12
UCSC Genome Browser
View 11p11.12 on the UCSC genome browser

Gene details

HGNC symbol
LOC387770
Aliases
 
Common name
tripartite motif containing 49D1 pseudogene 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
387770
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC400655

1.
Identifier
rs12960908
Cytogenetic Location
18q22.3
UCSC Genome Browser
View 18q22.3 on the UCSC genome browser

Gene details

HGNC symbol
LOC400655
Aliases
 
Common name
uncharacterized LOC400655 
Description
OMIM
Ensembl
ENSG00000263711
UniProt/Swiss-Prot
Entrez Gene
400655
UniGene
579378
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LRP1B

1.
Identifier
rs1898422
Cytogenetic Location
2q22.1-q22.2
UCSC Genome Browser
View 2q22.1-q22.2 on the UCSC genome browser

Gene details

HGNC symbol
LRP1B
Aliases
LRP-1B; LRPDIT; LRP-DIT 
Common name
LDL receptor related protein 1B 
Description
This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016]
Other longevity studies of this gene
1
OMIM
608766
Ensembl
ENSG00000168702
UniProt/Swiss-Prot
LRP1B_HUMAN
Entrez Gene
53353
UniGene
656461
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
lrp1ba
Drosophila melanogaster
LRP1
Mus musculus
Lrp1b

LY6G6F

1.
Identifier
rs2242653
Cytogenetic Location
6p21.33
UCSC Genome Browser
View 6p21.33 on the UCSC genome browser

Gene details

HGNC symbol
LY6G6F
Aliases
G6f; NG32; LY6G6; LY6G6D; C6orf21 
Common name
lymphocyte antigen 6 family member G6F 
Description
The human G6f protein is a type I transmembrane protein belonging to the immunoglobin (Ig) superfamily, which is comprised of cell-surface proteins involved in the immune system and cellular recognition (de Vet et al., 2003 [PubMed 12852788]).[supplied by OMIM, Mar 2008]
OMIM
611404
Ensembl
ENSG00000204424
UniProt/Swiss-Prot
A0A1L6Z9Z3_HUMAN
Entrez Gene
259215
UniGene
591794
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Ly6g6f
Rattus norvegicus
Ly6g6f

LY86

1.
Identifier
rs3804474
Cytogenetic Location
6p25.1
UCSC Genome Browser
View 6p25.1 on the UCSC genome browser

Gene details

HGNC symbol
LY86
Aliases
MD1; MD-1; MMD-1; dJ80N2.1 
Common name
lymphocyte antigen 86 
Description
OMIM
605241
Ensembl
ENSG00000112799
UniProt/Swiss-Prot
LY86_HUMAN
Entrez Gene
9450
UniGene
653138
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
uncharacterized_E7F6
Mus musculus
Ly86
Rattus norvegicus
Ly86

LYPLAL1

1.
Identifier
rs7524519
Cytogenetic Location
1q41
UCSC Genome Browser
View 1q41 on the UCSC genome browser

Gene details

HGNC symbol
LYPLAL1
Aliases
Q96AV0 
Common name
lysophospholipase like 1 
Description
OMIM
616548
Ensembl
ENSG00000143353
UniProt/Swiss-Prot
LYPL1_HUMAN
Entrez Gene
127018
UniGene
657617
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
zgc:110848
Drosophila melanogaster
CG6567
Mus musculus
Lyplal1
Rattus norvegicus
Lyplal1

MIR4500HG

1.
Identifier
rs9554632
Cytogenetic Location
13q31.2
UCSC Genome Browser
View 13q31.2 on the UCSC genome browser

Gene details

HGNC symbol
MIR4500HG
Aliases
 
Common name
MIR4500 host gene 
Description
OMIM
Ensembl
ENSG00000228824
UniProt/Swiss-Prot
Entrez Gene
642345
UniGene
508337
HapMap
View on HapMap

Homologs in model organisms

No homologs found

MKL1

1.
Identifier
rs5758008
Cytogenetic Location
22q13.1-q13.2
UCSC Genome Browser
View 22q13.1-q13.2 on the UCSC genome browser

Gene details

HGNC symbol
MKL1
Aliases
MAL; BSAC; MRTF-A 
Common name
megakaryoblastic leukemia (translocation) 1 
Description
The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
OMIM
606078
Ensembl
ENSG00000196588
UniProt/Swiss-Prot
A4FUJ8_HUMAN
Entrez Gene
57591
UniGene
654688
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
mkl1b
Mus musculus
Mkl1
Rattus norvegicus
Mkl1

MYO9B

1.
Identifier
rs7246865
Cytogenetic Location
19p13.11
UCSC Genome Browser
View 19p13.11 on the UCSC genome browser

Gene details

HGNC symbol
MYO9B
Aliases
MYR5; CELIAC4 
Common name
myosin IXB 
Description
This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
OMIM
602129
Ensembl
ENSG00000099331
UniProt/Swiss-Prot
B0I1T6_HUMAN
Entrez Gene
4650
UniGene
123198
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
hum-7
Danio rerio
LOC100332329
Mus musculus
Myo9b
Rattus norvegicus
Myo9b

MYT1L

1.
Identifier
rs10190125
Cytogenetic Location
2p25.3
UCSC Genome Browser
View 2p25.3 on the UCSC genome browser

Gene details

HGNC symbol
MYT1L
Aliases
NZF1; MRD39; myT1-L; ZC2H2C2; ZC2HC4B 
Common name
myelin transcription factor 1 like 
Description
This gene encodes a member of the zinc finger superfamily of transcription factors. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with autosomal mental retardation-39 and autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Aug 2016]
OMIM
613084
Ensembl
ENSG00000186487
UniProt/Swiss-Prot
MYT1L_HUMAN
Entrez Gene
23040
UniGene
434418
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
myt1la
Mus musculus
Myt1l
Rattus norvegicus
Myt1l

NAV2

1.
Identifier
rs894558
Cytogenetic Location
11p15.1
UCSC Genome Browser
View 11p15.1 on the UCSC genome browser

Gene details

HGNC symbol
NAV2
Aliases
HELAD1; RAINB1; POMFIL2; UNC53H2; STEERIN2 
Common name
neuron navigator 2 
Description
This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
OMIM
607026
Ensembl
ENSG00000166833
UniProt/Swiss-Prot
A7E2D6_HUMAN
Entrez Gene
89797
UniGene
64341
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
nav2
Mus musculus
Nav2
Rattus norvegicus
Nav2

NBEA

1.
Identifier
rs9530108
Cytogenetic Location
13q13.3
UCSC Genome Browser
View 13q13.3 on the UCSC genome browser

Gene details

HGNC symbol
NBEA
Aliases
BCL8B; LYST2 
Common name
neurobeachin 
Description
This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]
OMIM
604889
Ensembl
ENSG00000172915
UniProt/Swiss-Prot
B3KXQ8_HUMAN
Entrez Gene
26960
UniGene
491172
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
nbeaa
Mus musculus
Nbea

NFKB1

1.
Identifier
rs4647992
Cytogenetic Location
4q24
UCSC Genome Browser
View 4q24 on the UCSC genome browser

Gene details

HGNC symbol
NFKB1
Aliases
p50; KBF1; p105; EBP-1; CVID12; NF-kB1; NFKB-p50; NFkappaB; NF-kappaB; NFKB-p105; NF-kappa-B 
Common name
nuclear factor kappa B subunit 1 
Description
This gene encodes a 105 kD protein which can undergo cotranslational processing by the 26S proteasome to produce a 50 kD protein. The 105 kD protein is a Rel protein-specific transcription inhibitor and the 50 kD protein is a DNA binding subunit of the NF-kappa-B (NFKB) protein complex. NFKB is a transcription regulator that is activated by various intra- and extra-cellular stimuli such as cytokines, oxidant-free radicals, ultraviolet irradiation, and bacterial or viral products. Activated NFKB translocates into the nucleus and stimulates the expression of genes involved in a wide variety of biological functions. Inappropriate activation of NFKB has been associated with a number of inflammatory diseases while persistent inhibition of NFKB leads to inappropriate immune cell development or delayed cell growth. Alternative splicing results in multiple transcript variants encoding different isoforms, at least one of which is proteolytically processed. [provided by RefSeq, Feb 2016]
Other longevity studies of this gene
1
OMIM
164011
Ensembl
ENSG00000109320
UniProt/Swiss-Prot
A0A024RDJ4_HUMAN
Entrez Gene
4790
UniGene
618430
HapMap
View on HapMap

Homologs in model organisms

Drosophila melanogaster
Rel
Mus musculus
Nfkb1
Rattus norvegicus
Nfkb1

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Nfkb1
GenAge human genes
  • This gene is present as NFKB1

NR2F2-AS1

1.
Identifier
rs2252024
Cytogenetic Location
15q26.2
UCSC Genome Browser
View 15q26.2 on the UCSC genome browser

Gene details

HGNC symbol
NR2F2-AS1
Aliases
 
Common name
NR2F2 antisense RNA 1 
Description
OMIM
Ensembl
ENSG00000247809
UniProt/Swiss-Prot
Entrez Gene
644192
UniGene
58690
HapMap
View on HapMap

Homologs in model organisms

No homologs found

NR3C1

1.
Identifier
rs2963154
Cytogenetic Location
5q31.3
UCSC Genome Browser
View 5q31.3 on the UCSC genome browser

Gene details

HGNC symbol
NR3C1
Aliases
GR; GCR; GRL; GCCR; GCRST 
Common name
nuclear receptor subfamily 3 group C member 1 
Description
This gene encodes glucocorticoid receptor, which can function both as a transcription factor that binds to glucocorticoid response elements in the promoters of glucocorticoid responsive genes to activate their transcription, and as a regulator of other transcription factors. This receptor is typically found in the cytoplasm, but upon ligand binding, is transported into the nucleus. It is involved in inflammatory responses, cellular proliferation, and differentiation in target tissues. Mutations in this gene are associated with generalized glucocorticoid resistance. Alternative splicing of this gene results in transcript variants encoding either the same or different isoforms. Additional isoforms resulting from the use of alternate in-frame translation initiation sites have also been described, and shown to be functional, displaying diverse cytoplasm-to-nucleus trafficking patterns and distinct transcriptional activities (PMID:15866175). [provided by RefSeq, Feb 2011]
Other longevity studies of this gene
4
OMIM
138040
Ensembl
ENSG00000113580
UniProt/Swiss-Prot
B7Z7I2_HUMAN
Entrez Gene
2908
UniGene
122926
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
nr3c1
Mus musculus
Nr3c1
Rattus norvegicus
Nr3c1

In other databases

GenAge human genes
  • This gene is present as NR3C1

NT5DC1

1.
Identifier
rs11153598
Cytogenetic Location
6q22.1
UCSC Genome Browser
View 6q22.1 on the UCSC genome browser

Gene details

HGNC symbol
NT5DC1
Aliases
LP2642; NT5C2L1; C6orf200 
Common name
5'-nucleotidase domain containing 1 
Description
While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010]
OMIM
Ensembl
ENSG00000178425
UniProt/Swiss-Prot
NT5D1_HUMAN
Entrez Gene
221294
UniGene
520341
HapMap
View on HapMap

Homologs in model organisms

No homologs found

OGDH

1.
Identifier
rs12155014
Cytogenetic Location
7p13
UCSC Genome Browser
View 7p13 on the UCSC genome browser

Gene details

HGNC symbol
OGDH
Aliases
E1k; OGDC; AKGDH 
Common name
oxoglutarate dehydrogenase 
Description
This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]
OMIM
613022
Ensembl
ENSG00000105953
UniProt/Swiss-Prot
A0A140VJQ5_HUMAN
Entrez Gene
4967
UniGene
488181
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ogdhb
Mus musculus
Ogdh
Rattus norvegicus
Ogdh

PAPD5

1.
Identifier
rs4785393
Cytogenetic Location
16q12.1
UCSC Genome Browser
View 16q12.1 on the UCSC genome browser

Gene details

HGNC symbol
PAPD5
Aliases
TRF4-2 
Common name
poly(A) RNA polymerase D5, non-canonical 
Description
OMIM
605540
Ensembl
ENSG00000121274
UniProt/Swiss-Prot
A0A024R6Q7_HUMAN
Entrez Gene
64282
UniGene
514342
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC568678
Mus musculus
Papd5
Rattus norvegicus
Papd5

PCNX2

1.
Identifier
rs701176
Cytogenetic Location
1q42.2
UCSC Genome Browser
View 1q42.2 on the UCSC genome browser

Gene details

HGNC symbol
PCNX2
Aliases
PCNXL2 
Common name
pecanex homolog 2 (Drosophila) 
Description
This gene contains coding mononucleotide repeats that are associated with tumors of high mcrosatellite instability (MSI-H). Defects in this gene are involved in the tumorigenesis of MSI-H colorectal carcinomas. [provided by RefSeq, Jun 2016]
OMIM
Ensembl
ENSG00000135749
UniProt/Swiss-Prot
B3KNZ5_HUMAN
Entrez Gene
80003
UniGene
370605
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
B0511.12
Danio rerio
pcnxl2
Mus musculus
Pcnxl2
Rattus norvegicus
Pcnxl2

PGPEP1

1.
Identifier
rs11086106
Cytogenetic Location
19p13.11
UCSC Genome Browser
View 19p13.11 on the UCSC genome browser

Gene details

HGNC symbol
PGPEP1
Aliases
PGI; PGP; Pcp; PGPI; PAP-I; PGP-I 
Common name
pyroglutamyl-peptidase I 
Description
The gene encodes a cysteine protease and member of the peptidase C15 family of proteins. The encoded protein cleaves amino terminal pyroglutamate residues from protein substrates including thyrotropin-releasing hormone and other neuropeptides. Expression of this gene may be downregulated in colorectal cancer, while activity of the encoded protein may be negatively correlated with cancer progression in colorectal cancer patients. Activity of the encoded protease may also be altered in other disease states including in liver cirrhosis, which is associated with reduced protease activity, and in necrozoospermia, which is associated with elevated protease activity. [provided by RefSeq, Jul 2016]
OMIM
610694
Ensembl
ENSG00000130517
UniProt/Swiss-Prot
PGPI_HUMAN
Entrez Gene
54858
UniGene
131776
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
pgpep1
Mus musculus
Pgpep1
Rattus norvegicus
Pgpep1

PHYHIP

1.
Identifier
rs4871976
Cytogenetic Location
8p21.3
UCSC Genome Browser
View 8p21.3 on the UCSC genome browser

Gene details

HGNC symbol
PHYHIP
Aliases
PAHX-AP; PAHXAP1; DYRK1AP3 
Common name
phytanoyl-CoA 2-hydroxylase interacting protein 
Description
OMIM
608511
Ensembl
ENSG00000168490
UniProt/Swiss-Prot
PHYIP_HUMAN
Entrez Gene
9796
UniGene
334688
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_M01B2.13
Mus musculus
Phyhip
Rattus norvegicus
Phyhip

PITPNM3

1.
Identifier
rs9916344
Cytogenetic Location
17p13.2-p13.1
UCSC Genome Browser
View 17p13.2-p13.1 on the UCSC genome browser

Gene details

HGNC symbol
PITPNM3
Aliases
NIR1; ACKR6; CORD5; RDGBA3 
Common name
PITPNM family member 3 
Description
This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
OMIM
608921
Ensembl
ENSG00000091622
UniProt/Swiss-Prot
A1A5C9_HUMAN
Entrez Gene
83394
UniGene
183983
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
pitp-1
Danio rerio
BX571984.2
Mus musculus
Pitpnm3
Rattus norvegicus
Pitpnm3

PKNOX2

1.
Identifier
rs590211
Cytogenetic Location
11q24.2
UCSC Genome Browser
View 11q24.2 on the UCSC genome browser

Gene details

HGNC symbol
PKNOX2
Aliases
PREP2 
Common name
PBX/knotted 1 homeobox 2 
Description
Homeodomain proteins are sequence-specific transcription factors that share a highly conserved DNA-binding domain and play fundamental roles in cell proliferation, differentiation, and death. PKNOX2 belongs to the TALE (3-amino acid loop extension) class of homeodomain proteins characterized by a 3-amino acid extension between alpha helices 1 and 2 within the homeodomain (Imoto et al., 2001 [PubMed 11549286]).[supplied by OMIM, Oct 2009]
OMIM
613066
Ensembl
ENSG00000165495
UniProt/Swiss-Prot
B7ZAF3_HUMAN
Entrez Gene
63876
UniGene
278564
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
pknox2
Mus musculus
Pknox2
Rattus norvegicus
LOC100364346

PLEKHA7

1.
Identifier
rs216493
Cytogenetic Location
11p15.2-p15.1
UCSC Genome Browser
View 11p15.2-p15.1 on the UCSC genome browser

Gene details

HGNC symbol
PLEKHA7
Aliases
 
Common name
pleckstrin homology domain containing A7 
Description
OMIM
612686
Ensembl
ENSG00000166689
UniProt/Swiss-Prot
E9PKC0_HUMAN
Entrez Gene
144100
UniGene
12332
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
plekha7b
Drosophila melanogaster
CG14365
Mus musculus
Plekha7

PLXNA4

1.
Identifier
rs1868778
Cytogenetic Location
7q32.3
UCSC Genome Browser
View 7q32.3 on the UCSC genome browser

Gene details

HGNC symbol
PLXNA4
Aliases
PLEXA4; PLXNA4A; PLXNA4B; FAYV2820; PRO34003 
Common name
plexin A4 
Description
OMIM
604280
Ensembl
ENSG00000221866
UniProt/Swiss-Prot
A0A024R7A6_HUMAN
Entrez Gene
91584
UniGene
511454
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
plxna4
Mus musculus
Plxna4
Rattus norvegicus
Plxna4a

PPP2R2B

1.
Identifier
rs249904
Cytogenetic Location
5q32
UCSC Genome Browser
View 5q32 on the UCSC genome browser

Gene details

HGNC symbol
PPP2R2B
Aliases
PR52B; SCA12; B55BETA; PR55BETA; PP2ABBETA; PP2APR55B; PR2ABBETA; PR55-BETA; PP2AB55BETA; PR2AB55BETA; PP2APR55BETA; PR2APR55BETA 
Common name
protein phosphatase 2 regulatory subunit Bbeta 
Description
The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]
OMIM
604325
Ensembl
ENSG00000156475
UniProt/Swiss-Prot
2ABB_HUMAN
Entrez Gene
5521
UniGene
627618
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ppp2r2bb
Mus musculus
Ppp2r2b
Rattus norvegicus
Ppp2r2b

PREX1

1.
Identifier
rs4596036
Cytogenetic Location
20q13.13
UCSC Genome Browser
View 20q13.13 on the UCSC genome browser

Gene details

HGNC symbol
PREX1
Aliases
P-REX1 
Common name
phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 
Description
The protein encoded by this gene acts as a guanine nucleotide exchange factor for the RHO family of small GTP-binding proteins (RACs). It has been shown to bind to and activate RAC1 by exchanging bound GDP for free GTP. The encoded protein, which is found mainly in the cytoplasm, is activated by phosphatidylinositol-3,4,5-trisphosphate and the beta-gamma subunits of heterotrimeric G proteins. [provided by RefSeq, Jul 2008]
OMIM
606905
Ensembl
ENSG00000124126
UniProt/Swiss-Prot
PREX1_HUMAN
Entrez Gene
57580
UniGene
153310
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
prex1
Mus musculus
Prex1
Rattus norvegicus
Prex1

PRKN

1.
Identifier
rs3019435
Cytogenetic Location
6q26
UCSC Genome Browser
View 6q26 on the UCSC genome browser

Gene details

HGNC symbol
PRKN
Aliases
PDJ; AR-JP; LPRS2; PARK2 
Common name
parkin RBR E3 ubiquitin protein ligase 
Description
The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
15
OMIM
602544
Ensembl
ENSG00000185345
UniProt/Swiss-Prot
PRKN2_HUMAN
Entrez Gene
5071
UniGene
132954
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
pdr-1
Drosophila melanogaster
park
Mus musculus
Park2
Rattus norvegicus
Park2

In other databases

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

PROM1

1.
Identifier
rs1517598
Cytogenetic Location
4p15.32
UCSC Genome Browser
View 4p15.32 on the UCSC genome browser

Gene details

HGNC symbol
PROM1
Aliases
RP41; AC133; CD133; MCDR2; STGD4; CORD12; PROML1; MSTP061 
Common name
prominin 1 
Description
This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
OMIM
604365
Ensembl
ENSG00000007062
UniProt/Swiss-Prot
A0A0A0N0M1_HUMAN
Entrez Gene
8842
UniGene
614734
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
prom1b
Drosophila melanogaster
CG7740
Mus musculus
Prom1
Rattus norvegicus
Prom1

PTAR1

1.
Identifier
rs7857137
Cytogenetic Location
9q21.12
UCSC Genome Browser
View 9q21.12 on the UCSC genome browser

Gene details

HGNC symbol
PTAR1
Aliases
 
Common name
protein prenyltransferase alpha subunit repeat containing 1 
Description
OMIM
Ensembl
ENSG00000188647
UniProt/Swiss-Prot
PTAR1_HUMAN
Entrez Gene
375743
UniGene
744192
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ptar1
Drosophila melanogaster
l(1)G0144
Mus musculus
Ptar1
Rattus norvegicus
Ptar1

RAD51B

1.
Identifier
rs1033686
Cytogenetic Location
14q24.1
UCSC Genome Browser
View 14q24.1 on the UCSC genome browser
2.
Identifier
rs4902538
Cytogenetic Location
14q24.1
UCSC Genome Browser
View 14q24.1 on the UCSC genome browser

Gene details

HGNC symbol
RAD51B
Aliases
REC2; R51H2; RAD51L1 
Common name
RAD51 paralog B 
Description
The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016]
Other longevity studies of this gene
1
OMIM
602948
Ensembl
ENSG00000182185
UniProt/Swiss-Prot
A0A024R656_HUMAN
Entrez Gene
5890
UniGene
172587
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
rad51b
Mus musculus
Rad51b
Rattus norvegicus
LOC100912736

RAD51D

1.
Identifier
rs3816754
Cytogenetic Location
17q12
UCSC Genome Browser
View 17q12 on the UCSC genome browser

Gene details

HGNC symbol
RAD51D
Aliases
TRAD; R51H3; BROVCA4; RAD51L3 
Common name
RAD51 paralog D 
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, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream ring finger and FYVE-like domain containing 1 (RFFL) gene. [provided by RefSeq, Jan 2011]
OMIM
602954
Ensembl
ENSG00000185379
UniProt/Swiss-Prot
RA51D_HUMAN
Entrez Gene
5892
UniGene
631757
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
rad51d
Drosophila melanogaster
Rad51C
Mus musculus
Rad51d
Rattus norvegicus
Rad51d

RARB

1.
Identifier
rs922943
Cytogenetic Location
3p24.2
UCSC Genome Browser
View 3p24.2 on the UCSC genome browser

Gene details

HGNC symbol
RARB
Aliases
HAP; RRB2; NR1B2; MCOPS12; RARbeta1 
Common name
retinoic acid receptor beta 
Description
This gene encodes retinoic acid receptor beta, a member of the thyroid-steroid hormone receptor superfamily of nuclear transcriptional regulators. This receptor localizes to the cytoplasm and to subnuclear compartments. It binds retinoic acid, the biologically active form of vitamin A which mediates cellular signalling in embryonic morphogenesis, cell growth and differentiation. It is thought that this protein limits growth of many cell types by regulating gene expression. The gene was first identified in a hepatocellular carcinoma where it flanks a hepatitis B virus integration site. Alternate promoter usage and differential splicing result in multiple transcript variants. [provided by RefSeq, Mar 2014]
OMIM
180220
Ensembl
ENSG00000077092
UniProt/Swiss-Prot
F1D8S6_HUMAN
Entrez Gene
5915
UniGene
543218
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Rarb
Rattus norvegicus
Rarb

RNF145

1.
Identifier
rs2043270
Cytogenetic Location
5q33.3
UCSC Genome Browser
View 5q33.3 on the UCSC genome browser

Gene details

HGNC symbol
RNF145
Aliases
 
Common name
ring finger protein 145 
Description
OMIM
Ensembl
ENSG00000145860
UniProt/Swiss-Prot
A8K9Y9_HUMAN
Entrez Gene
153830
UniGene
349306
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_Y119C1B.5
Danio rerio
rnf145
Mus musculus
Rnf145
Rattus norvegicus
Rnf145

RNF219-AS1

1.
Identifier
rs12585627
Cytogenetic Location
13q22.3-q31.1
UCSC Genome Browser
View 13q22.3-q31.1 on the UCSC genome browser

Gene details

HGNC symbol
RNF219-AS1
Aliases
POU4F1-AS1 
Common name
RNF219 antisense RNA 1 
Description
OMIM
Ensembl
ENSG00000234377
UniProt/Swiss-Prot
Entrez Gene
100874222
UniGene
493062
HapMap
View on HapMap

Homologs in model organisms

No homologs found

RYR3

1.
Identifier
rs2596230
Cytogenetic Location
15q13.3-q14
UCSC Genome Browser
View 15q13.3-q14 on the UCSC genome browser

Gene details

HGNC symbol
RYR3
Aliases
RYR-3 
Common name
ryanodine receptor 3 
Description
The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
OMIM
180903
Ensembl
ENSG00000198838
UniProt/Swiss-Prot
A0A0U1RRH1_HUMAN
Entrez Gene
6263
UniGene
709373
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ryr3
Mus musculus
Ryr3

SEMA6A

1.
Identifier
rs10055012
Cytogenetic Location
5q23.1
UCSC Genome Browser
View 5q23.1 on the UCSC genome browser

Gene details

HGNC symbol
SEMA6A
Aliases
VIA; SEMA; HT018; SEMAQ; SEMA6A1 
Common name
semaphorin 6A 
Description
The transmembrane semaphorin SEMA6A is expressed in developing neural tissue and is required for proper development of the thalamocortical projection (Leighton et al., 2001 [PubMed 11242070]).[supplied by OMIM, Feb 2011]
OMIM
605885
Ensembl
ENSG00000092421
UniProt/Swiss-Prot
A0A0A0MQU6_HUMAN
Entrez Gene
57556
UniGene
156967
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
sema6a
Mus musculus
Sema6a
Rattus norvegicus
Sema6a

SGSH

1.
Identifier
rs9894254
Cytogenetic Location
17q25.3
UCSC Genome Browser
View 17q25.3 on the UCSC genome browser

Gene details

HGNC symbol
SGSH
Aliases
HSS; SFMD; MPS3A 
Common name
N-sulfoglucosamine sulfohydrolase 
Description
This gene encodes one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with Sanfilippo syndrome A, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
OMIM
605270
Ensembl
ENSG00000181523
UniProt/Swiss-Prot
SPHM_HUMAN
Entrez Gene
6448
UniGene
31074
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
sgsh
Drosophila melanogaster
CG14291
Mus musculus
Sgsh
Rattus norvegicus
LOC688293

SH2D4A

1.
Identifier
rs6997589
Cytogenetic Location
8p21.3
UCSC Genome Browser
View 8p21.3 on the UCSC genome browser

Gene details

HGNC symbol
SH2D4A
Aliases
SH2A; PPP1R38 
Common name
SH2 domain containing 4A 
Description
OMIM
614968
Ensembl
ENSG00000104611
UniProt/Swiss-Prot
SH24A_HUMAN
Entrez Gene
63898
UniGene
303208
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_F13B12.6
Danio rerio
zgc:56186
Mus musculus
Sh2d4a
Rattus norvegicus
Sh2d4a

SLC25A21

1.
Identifier
rs1429842
Cytogenetic Location
14q13.3
UCSC Genome Browser
View 14q13.3 on the UCSC genome browser

Gene details

HGNC symbol
SLC25A21
Aliases
ODC; ODC1 
Common name
solute carrier family 25 member 21 
Description
SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004]
OMIM
607571
Ensembl
ENSG00000183032
UniProt/Swiss-Prot
ODC_HUMAN
Entrez Gene
89874
UniGene
730857
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_R11.1
Danio rerio
slc25a21
Drosophila melanogaster
EG:BACR19J1.2
Mus musculus
Slc25a21
Rattus norvegicus
Slc25a21
Saccharomyces cerevisiae
ODC1
Schizosaccharomyces pombe
SPAC328.09

SLC4A4

1.
Identifier
rs7656234
Cytogenetic Location
4q13.3
UCSC Genome Browser
View 4q13.3 on the UCSC genome browser

Gene details

HGNC symbol
SLC4A4
Aliases
KNBC; NBC1; NBC2; pNBC; HNBC1; hhNMC; kNBC1; SLC4A5; NBCe1-A 
Common name
solute carrier family 4 member 4 
Description
This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
OMIM
603345
Ensembl
ENSG00000080493
UniProt/Swiss-Prot
A0A024RD97_HUMAN
Entrez Gene
8671
UniGene
5462
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
slc4a4a
Mus musculus
Slc4a4
Rattus norvegicus
Slc4a4

SLC6A7

1.
Identifier
rs11954180
Cytogenetic Location
5q32
UCSC Genome Browser
View 5q32 on the UCSC genome browser

Gene details

HGNC symbol
SLC6A7
Aliases
PROT 
Common name
solute carrier family 6 member 7 
Description
This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs from other sodium-dependent plasma membrane carriers by its pharmacological specificity, kinetic properties, and ionic requirements. [provided by RefSeq, Jul 2008]
OMIM
606205
Ensembl
ENSG00000011083
UniProt/Swiss-Prot
SC6A7_HUMAN
Entrez Gene
6534
UniGene
241597
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Slc6a7
Rattus norvegicus
Slc6a7

SNAP25-AS1

1.
Identifier
rs6104550
Cytogenetic Location
20p12.2
UCSC Genome Browser
View 20p12.2 on the UCSC genome browser

Gene details

HGNC symbol
SNAP25-AS1
Aliases
 
Common name
SNAP25 antisense RNA 1 
Description
OMIM
Ensembl
ENSG00000227906
UniProt/Swiss-Prot
Entrez Gene
100131208
UniGene
658178
HapMap
View on HapMap

Homologs in model organisms

No homologs found

SOCS2

1.
Identifier
rs3782415
Cytogenetic Location
12q22
UCSC Genome Browser
View 12q22 on the UCSC genome browser

Gene details

HGNC symbol
SOCS2
Aliases
CIS2; SSI2; Cish2; SSI-2; SOCS-2; STATI2 
Common name
suppressor of cytokine signaling 2 
Description
This gene encodes a member of the suppressor of cytokine signaling (SOCS) family. SOCS family members are cytokine-inducible negative regulators of cytokine receptor signaling via the Janus kinase/signal transducer and activation of transcription pathway (the JAK/STAT pathway). SOCS family proteins interact with major molecules of signaling complexes to block further signal transduction, in part, by proteasomal depletion of receptors or signal-transducing proteins via ubiquitination. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10, interferon (IFN)-gamma and by cytokine receptors such as growth horomone receptor. The protein encoded by this gene interacts with the cytoplasmic domain of insulin-like growth factor-1 receptor (IGF1R) and is thought to be involved in the regulation of IGF1R mediated cell signaling. This gene has pseudogenes on chromosomes 20 and 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
OMIM
605117
Ensembl
ENSG00000120833
UniProt/Swiss-Prot
A0A024RBD2_HUMAN
Entrez Gene
8835
UniGene
485572
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
socs2
Mus musculus
Gm9847
Rattus norvegicus
Socs2

In other databases

GenAge human genes
  • This gene is present as SOCS2

SOD2

1.
Identifier
rs2758331
In Other Studies (IDs)
2168 2644
Cytogenetic Location
6q25.3
UCSC Genome Browser
View 6q25.3 on the UCSC genome browser

Gene details

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

Homologs in model organisms

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

In other databases

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

SORCS1

1.
Identifier
rs4918255
Cytogenetic Location
10q25.1
UCSC Genome Browser
View 10q25.1 on the UCSC genome browser

Gene details

HGNC symbol
SORCS1
Aliases
hSorCS 
Common name
sortilin related VPS10 domain containing receptor 1 
Description
This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. Two of the five family members (sortilin and sortilin-related receptor) are synthesized as preproproteins; it is not yet known if this encoded protein is also a preproprotein. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
606283
Ensembl
ENSG00000108018
UniProt/Swiss-Prot
A8K182_HUMAN
Entrez Gene
114815
UniGene
591915
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
CABZ01076351.1
Mus musculus
Sorcs1
Rattus norvegicus
Sorcs1

SORCS2

1.
Identifier
rs6812745
Cytogenetic Location
4p16.1
UCSC Genome Browser
View 4p16.1 on the UCSC genome browser

Gene details

HGNC symbol
SORCS2
Aliases
 
Common name
sortilin related VPS10 domain containing receptor 2 
Description
This gene encodes one family member of vacuolar protein sorting 10 (VPS10) domain-containing receptor proteins. The VPS10 domain name comes from the yeast carboxypeptidase Y sorting receptor Vps10 protein. Members of this gene family are large with many exons but the CDS lengths are usually less than 3700 nt. Very large introns typically separate the exons encoding the VPS10 domain; the remaining exons are separated by much smaller-sized introns. These genes are strongly expressed in the central nervous system. [provided by RefSeq, Jul 2008]
OMIM
606284
Ensembl
ENSG00000184985
UniProt/Swiss-Prot
SORC2_HUMAN
Entrez Gene
57537
UniGene
479099
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
sorcs2
Mus musculus
Sorcs2
Rattus norvegicus
Sorcs2

SUMF1

1.
Identifier
rs12634249
Cytogenetic Location
3p26.1
UCSC Genome Browser
View 3p26.1 on the UCSC genome browser

Gene details

HGNC symbol
SUMF1
Aliases
FGE; UNQ3037; AAPA3037 
Common name
sulfatase modifying factor 1 
Description
This gene encodes an enzyme that catalyzes the hydrolysis of sulfate esters by oxidizing a cysteine residue in the substrate sulfatase to an active site 3-oxoalanine residue, which is also known as C-alpha-formylglycine. Mutations in this gene cause multiple sulfatase deficiency, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Other longevity studies of this gene
2
OMIM
607939
Ensembl
ENSG00000144455
UniProt/Swiss-Prot
SUMF1_HUMAN
Entrez Gene
285362
UniGene
350475
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
sumf1
Drosophila melanogaster
CG7049
Mus musculus
Sumf1
Rattus norvegicus
Sumf1

SYNE1

1.
Identifier
rs9397084
Cytogenetic Location
6q25.2
UCSC Genome Browser
View 6q25.2 on the UCSC genome browser

Gene details

HGNC symbol
SYNE1
Aliases
8B; CPG2; ARCA1; EDMD4; KASH1; MYNE1; Nesp1; SCAR8; C6orf98; dJ45H2.2 
Common name
spectrin repeat containing nuclear envelope protein 1 
Description
This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
OMIM
608441
Ensembl
ENSG00000131018
UniProt/Swiss-Prot
A0A0C4DG40_HUMAN
Entrez Gene
23345
UniGene
12967
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
syne1b
Mus musculus
Syne1

SYT13

1.
Identifier
rs4755936
Cytogenetic Location
11p11.2
UCSC Genome Browser
View 11p11.2 on the UCSC genome browser

Gene details

HGNC symbol
SYT13
Aliases
 
Common name
synaptotagmin 13 
Description
This gene encodes a member of the large synaptotagmin protein family. Family members have an extracellular N-terminal transmembrane domain and a cytoplasmic C terminus with two tandem C2 domains (C2A and C2B). Synaptotogmin family members can form homo- and heteromeric complexes with each other. They also have different biochemical properties and developmental profiles, and patterns of tissue distribution. Synaptotagmins function as membrane traffickers in multicellular organisms. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
OMIM
607716
Ensembl
ENSG00000019505
UniProt/Swiss-Prot
SYT13_HUMAN
Entrez Gene
57586
UniGene
436643
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
syt13
Mus musculus
Syt13
Rattus norvegicus
Syt13

TBL1XR1

1.
Identifier
rs6443429
Cytogenetic Location
3q26.32
UCSC Genome Browser
View 3q26.32 on the UCSC genome browser

Gene details

HGNC symbol
TBL1XR1
Aliases
C21; DC42; IRA1; MRD41; TBLR1 
Common name
transducin beta like 1 X-linked receptor 1 
Description
This gene is a member of the WD40 repeat-containing gene family and shares sequence similarity with transducin (beta)-like 1X-linked (TBL1X). The protein encoded by this gene is thought to be a component of both nuclear receptor corepressor (N-CoR) and histone deacetylase 3 (HDAC 3) complexes, and is required for transcriptional activation by a variety of transcription factors. Mutations in these gene have been associated with some autism spectrum disorders, and one finding suggests that haploinsufficiency of this gene may be a cause of intellectual disability with dysmorphism. Mutations in this gene as well as recurrent translocations involving this gene have also been observed in some tumors. [provided by RefSeq, Mar 2016]
OMIM
608628
Ensembl
ENSG00000177565
UniProt/Swiss-Prot
TBL1R_HUMAN
Entrez Gene
79718
UniGene
714201
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
zgc:110312
Drosophila melanogaster
ebi
Mus musculus
Tbl1xr1
Rattus norvegicus
Tbl1xr1
Schizosaccharomyces pombe
hif2

TBXAS1

1.
Identifier
rs1557967
Cytogenetic Location
7q34
UCSC Genome Browser
View 7q34 on the UCSC genome browser

Gene details

HGNC symbol
TBXAS1
Aliases
TS; TXS; CYP5; THAS; TXAS; CYP5A1; GHOSAL; BDPLT14 
Common name
thromboxane A synthase 1 
Description
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. However, this protein is considered a member of the cytochrome P450 superfamily on the basis of sequence similarity rather than functional similarity. This endoplasmic reticulum membrane protein catalyzes the conversion of prostglandin H2 to thromboxane A2, a potent vasoconstrictor and inducer of platelet aggregation. The enzyme plays a role in several pathophysiological processes including hemostasis, cardiovascular disease, and stroke. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
OMIM
274180
Ensembl
ENSG00000059377
UniProt/Swiss-Prot
A0A0A0MSK3_HUMAN
Entrez Gene
6916
UniGene
520757
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tbxas1
Drosophila melanogaster
Cyp9c1
Mus musculus
Tbxas1
Rattus norvegicus
Tbxas1

TENM4

1.
Identifier
rs563384
Cytogenetic Location
11q14.1
UCSC Genome Browser
View 11q14.1 on the UCSC genome browser

Gene details

HGNC symbol
TENM4
Aliases
Doc4; ETM5; ODZ4; TNM4; ten-4; Ten-M4 
Common name
teneurin transmembrane protein 4 
Description
The protein encoded by this gene plays a role in establishing proper neuronal connectivity during development. Defects in this gene have been associated with hereditary essential tremor-5. [provided by RefSeq, Oct 2016]
Other longevity studies of this gene
3
OMIM
610084
Ensembl
ENSG00000149256
UniProt/Swiss-Prot
TEN4_HUMAN
Entrez Gene
26011
UniGene
213087
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tenm4
Mus musculus
Tenm4
Rattus norvegicus
Odz4

THSD7B

1.
Identifier
rs2116538
Cytogenetic Location
2q22.1
UCSC Genome Browser
View 2q22.1 on the UCSC genome browser

Gene details

HGNC symbol
THSD7B
Aliases
 
Common name
thrombospondin type 1 domain containing 7B 
Description
OMIM
Ensembl
ENSG00000144229
UniProt/Swiss-Prot
E7EM75_HUMAN
Entrez Gene
80731
UniGene
68533
HapMap
View on HapMap

Homologs in model organisms

No homologs found

TMEM151B

1.
Identifier
rs524533
Cytogenetic Location
6p21.1
UCSC Genome Browser
View 6p21.1 on the UCSC genome browser

Gene details

HGNC symbol
TMEM151B
Aliases
TMEM193; C6orf137; bA444E17.5 
Common name
transmembrane protein 151B 
Description
OMIM
Ensembl
ENSG00000178233
UniProt/Swiss-Prot
T151B_HUMAN
Entrez Gene
441151
UniGene
632851
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC100333401
Mus musculus
Tmem151b
Rattus norvegicus
Tmem151b

TMEM2

1.
Identifier
rs12341685
Cytogenetic Location
9q21.13
UCSC Genome Browser
View 9q21.13 on the UCSC genome browser

Gene details

HGNC symbol
TMEM2
Aliases
 
Common name
transmembrane protein 2 
Description
This gene encodes a type II transmembrane protein that belongs to the interferon-induced transmembrane (IFITM) protein superfamily. The encoded protein functions as a cell surface hyaluronidase that cleaves extracellular high molecular weight hyaluronan into intermediate size fragments before internalization and degradation in the lysosome. It also has an interferon-mediated antiviral function in humans through activation of the JAK STAT signaling pathway. The activation of this gene by transcription factor SOX4 in breast cancer cells has been shown to mediate the pathological effects of SOX4 on cancer progression. Naturally occurring mutations in this gene are associated with autosomal recessive non-syndromic hearing loss. [provided by RefSeq, Mar 2017]
OMIM
605835
Ensembl
ENSG00000135048
UniProt/Swiss-Prot
A0A024R229_HUMAN
Entrez Gene
23670
UniGene
494146
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tmem2
Mus musculus
Tmem2
Rattus norvegicus
Tmem2

TNFRSF11A

1.
Identifier
rs8083511
Cytogenetic Location
18q21.33
UCSC Genome Browser
View 18q21.33 on the UCSC genome browser

Gene details

HGNC symbol
TNFRSF11A
Aliases
FEO; OFE; ODFR; OSTS; PDB2; RANK; CD265; OPTB7; TRANCER; LOH18CR1 
Common name
TNF receptor superfamily member 11a 
Description
The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]
OMIM
603499
Ensembl
ENSG00000141655
UniProt/Swiss-Prot
TNR11_HUMAN
Entrez Gene
8792
UniGene
204044
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
CT573348.1
Mus musculus
Tnfrsf11a
Rattus norvegicus
Tnfrsf11a

TNFSF8

1.
Identifier
rs3181360
Cytogenetic Location
9q32-q33.1
UCSC Genome Browser
View 9q32-q33.1 on the UCSC genome browser

Gene details

HGNC symbol
TNFSF8
Aliases
CD153; CD30L; CD30LG; TNLG3A 
Common name
TNF superfamily member 8 
Description
The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for TNFRSF8/CD30, which is a cell surface antigen and a marker for Hodgkin lymphoma and related hematologic malignancies. The engagement of this cytokine expressed on B cell surface plays an inhibitory role in modulating Ig class switch. This cytokine was shown to enhance cell proliferation of some lymphoma cell lines, while to induce cell death and reduce cell proliferation of other lymphoma cell lines. The pleiotropic biologic activities of this cytokine on different CD30+ lymphoma cell lines may play a pathophysiologic role in Hodgkin's and some non-Hodgkin's lymphomas. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
OMIM
603875
Ensembl
ENSG00000106952
UniProt/Swiss-Prot
A0A087X228_HUMAN
Entrez Gene
944
UniGene
494901
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Tnfsf8
Rattus norvegicus
Tnfsf8

TOMM40

1.
Identifier
rs2075650
In Other Studies (IDs)
282 355 360 723 899
Cytogenetic Location
19q13.32
UCSC Genome Browser
View 19q13.32 on the UCSC genome browser

Gene details

HGNC symbol
TOMM40
Aliases
TOM40; PEREC1; C19orf1; PER-EC1; D19S1177E 
Common name
translocase of outer mitochondrial membrane 40 
Description
The protein encoded by this gene is localized in the outer membrane of the mitochondria. It is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for import of protein precursors into mitochondria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2015]
Other longevity studies of this gene
6
OMIM
608061
Ensembl
ENSG00000130204
UniProt/Swiss-Prot
TOM40_HUMAN
Entrez Gene
10452
UniGene
655909
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tomm40l
Mus musculus
Tomm40
Rattus norvegicus
Tomm40

TOX

1.
Identifier
rs10957071
Cytogenetic Location
8q12.1
UCSC Genome Browser
View 8q12.1 on the UCSC genome browser

Gene details

HGNC symbol
TOX
Aliases
TOX1 
Common name
thymocyte selection associated high mobility group box 
Description
The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009]
OMIM
606863
Ensembl
ENSG00000198846
UniProt/Swiss-Prot
TOX_HUMAN
Entrez Gene
9760
UniGene
491805
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tox
Mus musculus
Tox
Rattus norvegicus
Tox

TRIM25

1.
Identifier
rs205499
Cytogenetic Location
17q22
UCSC Genome Browser
View 17q22 on the UCSC genome browser

Gene details

HGNC symbol
TRIM25
Aliases
EFP; Z147; RNF147; ZNF147 
Common name
tripartite motif containing 25 
Description
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. The presence of potential DNA-binding and dimerization-transactivation domains suggests that this protein may act as a transcription factor, similar to several other members of the TRIM family. Expression of the gene is upregulated in response to estrogen, and it is thought to mediate estrogen actions in breast cancer as a primary response gene. [provided by RefSeq, Jul 2008]
OMIM
600453
Ensembl
ENSG00000121060
UniProt/Swiss-Prot
TRI25_HUMAN
Entrez Gene
7706
UniGene
528952
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
trim25
Mus musculus
Trim25
Rattus norvegicus
Trim25

TTC27

1.
Identifier
rs3769583
Cytogenetic Location
2p22.3
UCSC Genome Browser
View 2p22.3 on the UCSC genome browser

Gene details

HGNC symbol
TTC27
Aliases
 
Common name
tetratricopeptide repeat domain 27 
Description
OMIM
Ensembl
ENSG00000018699
UniProt/Swiss-Prot
B4DRC7_HUMAN
Entrez Gene
55622
UniGene
468125
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
T20B12.1
Danio rerio
ttc27
Drosophila melanogaster
CG5290-RA
Mus musculus
Ttc27
Rattus norvegicus
Ttc27
Saccharomyces cerevisiae
EMW1
Schizosaccharomyces pombe
SPAC19B12.01

TTC6

1.
Identifier
rs10483493
Cytogenetic Location
14q21.1
UCSC Genome Browser
View 14q21.1 on the UCSC genome browser

Gene details

HGNC symbol
TTC6
Aliases
C14orf25; NCRNA00291 
Common name
tetratricopeptide repeat domain 6 
Description
OMIM
Ensembl
ENSG00000139865
UniProt/Swiss-Prot
Entrez Gene
319089
UniGene
659936
HapMap
View on HapMap

Homologs in model organisms

No homologs found

TUSC3

1.
Identifier
rs882696
Cytogenetic Location
8p22
UCSC Genome Browser
View 8p22 on the UCSC genome browser

Gene details

HGNC symbol
TUSC3
Aliases
M33; N33; MRT7; MRT22; OST3A; D8S1992 
Common name
tumor suppressor candidate 3 
Description
This gene is a candidate tumor suppressor gene. It is located within a homozygously deleted region of a metastatic prostate cancer. The gene is expressed in most nonlymphoid human tissues including prostate, lung, liver, and colon. Expression was also detected in many epithelial tumor cell lines. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
OMIM
601385
Ensembl
ENSG00000104723
UniProt/Swiss-Prot
TUSC3_HUMAN
Entrez Gene
7991
UniGene
426324
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Tusc3
Rattus norvegicus
Tusc3
Saccharomyces cerevisiae
OST3

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as OST3

UBE2H

1.
Identifier
rs3817530
Cytogenetic Location
7q32.2
UCSC Genome Browser
View 7q32.2 on the UCSC genome browser

Gene details

HGNC symbol
UBE2H
Aliases
GID3; UBC8; UBCH; UBCH2; E2-20K 
Common name
ubiquitin conjugating enzyme E2 H 
Description
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein sequence is 100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Three alternatively spliced transcript variants have been found for this gene and they encode distinct isoforms. [provided by RefSeq, Feb 2011]
OMIM
601082
Ensembl
ENSG00000186591
UniProt/Swiss-Prot
A4D1L5_HUMAN
Entrez Gene
7328
UniGene
643548
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
ubc-8
Danio rerio
ube2h
Drosophila melanogaster
Ubc-E2H
Mus musculus
Ube2h
Rattus norvegicus
Ube2h
Saccharomyces cerevisiae
UBC8
Schizosaccharomyces pombe
ubc8

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as UBC8

WDR72

1.
Identifier
rs10518725
Cytogenetic Location
15q21.3
UCSC Genome Browser
View 15q21.3 on the UCSC genome browser

Gene details

HGNC symbol
WDR72
Aliases
AI2A3 
Common name
WD repeat domain 72 
Description
This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
OMIM
613214
Ensembl
ENSG00000166415
UniProt/Swiss-Prot
A0A087WTC3_HUMAN
Entrez Gene
256764
UniGene
122125
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Wdr72
Rattus norvegicus
Wdr72

WRN

1.
Identifier
rs1800392
Cytogenetic Location
8p12
UCSC Genome Browser
View 8p12 on the UCSC genome browser
2.
Identifier
rs3024239
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

WWOX

1.
Identifier
rs2738679
Cytogenetic Location
16q23.1-q23.2
UCSC Genome Browser
View 16q23.1-q23.2 on the UCSC genome browser

Gene details

HGNC symbol
WWOX
Aliases
FOR; WOX1; EIEE28; FRA16D; SCAR12; HHCMA56; PRO0128; SDR41C1; D16S432E 
Common name
WW domain containing oxidoreductase 
Description
This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) protein family. This gene spans the FRA16D common chromosomal fragile site and appears to function as a tumor suppressor gene. Expression of the encoded protein is able to induce apoptosis, while defects in this gene are associated with multiple types of cancer. Disruption of this gene is also associated with autosomal recessive spinocerebellar ataxia 12. Disruption of a similar gene in mouse results in impaired steroidogenesis, additionally suggesting a metabolic function for the protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
OMIM
605131
Ensembl
ENSG00000186153
UniProt/Swiss-Prot
WWOX_HUMAN
Entrez Gene
51741
UniGene
461453
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_F32A5.8
Danio rerio
wwox
Drosophila melanogaster
Wwox
Mus musculus
Wwox
Rattus norvegicus
Wwox

XDH

1.
Identifier
rs4952085
Cytogenetic Location
2p23.1
UCSC Genome Browser
View 2p23.1 on the UCSC genome browser

Gene details

HGNC symbol
XDH
Aliases
XO; XOR; XAN1 
Common name
xanthine dehydrogenase 
Description
Xanthine dehydrogenase belongs to the group of molybdenum-containing hydroxylases involved in the oxidative metabolism of purines. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Xanthine dehydrogenase can be converted to xanthine oxidase by reversible sulfhydryl oxidation or by irreversible proteolytic modification. Defects in xanthine dehydrogenase cause xanthinuria, may contribute to adult respiratory stress syndrome, and may potentiate influenza infection through an oxygen metabolite-dependent mechanism. [provided by RefSeq, Jan 2014]
Other longevity studies of this gene
23
OMIM
607633
Ensembl
ENSG00000158125
UniProt/Swiss-Prot
XDH_HUMAN
Entrez Gene
7498
UniGene
250
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
xdh
Drosophila melanogaster
ry
Mus musculus
Xdh
Rattus norvegicus
Xdh

In other databases

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

XKR6

1.
Identifier
rs4240673
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser
2.
Identifier
rs6984496
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser
3.
Identifier
rs11783247
Cytogenetic Location
8p23.1
UCSC Genome Browser
View 8p23.1 on the UCSC genome browser

Gene details

HGNC symbol
XKR6
Aliases
XRG6; C8orf5; C8orf7; C8orf21 
Common name
XK related 6 
Description
Other longevity studies of this gene
2
OMIM
Ensembl
ENSG00000171044
UniProt/Swiss-Prot
Q96KT3_HUMAN
Entrez Gene
286046
UniGene
657083
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC100538317
Drosophila melanogaster
CG18635
Mus musculus
Xkr6
Rattus norvegicus
Xkr6

ZBTB20

1.
Identifier
rs10511330
Cytogenetic Location
3q13.31
UCSC Genome Browser
View 3q13.31 on the UCSC genome browser

Gene details

HGNC symbol
ZBTB20
Aliases
HOF; DPZF; PRIMS; ODA-8S; ZNF288 
Common name
zinc finger and BTB domain containing 20 
Description
This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
OMIM
606025
Ensembl
ENSG00000181722
UniProt/Swiss-Prot
B2RCW4_HUMAN
Entrez Gene
26137
UniGene
202577
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
zbtb20
Drosophila melanogaster
lola
Mus musculus
Zbtb20
Rattus norvegicus
Zbtb20

ZWINT

1.
Identifier
rs11005328
Cytogenetic Location
10q21.1
UCSC Genome Browser
View 10q21.1 on the UCSC genome browser

Gene details

HGNC symbol
ZWINT
Aliases
SIP30; ZWINT1; KNTC2AP; HZwint-1 
Common name
ZW10 interacting kinetochore protein 
Description
This gene encodes a protein that is clearly involved in kinetochore function although an exact role is not known. It interacts with ZW10, another kinetochore protein, possibly regulating the association between ZW10 and kinetochores. The encoded protein localizes to prophase kinetochores before ZW10 does and it remains detectable on the kinetochore until late anaphase. It has a uniform distribution in the cytoplasm of interphase cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
OMIM
609177
Ensembl
ENSG00000122952
UniProt/Swiss-Prot
ZWINT_HUMAN
Entrez Gene
11130
UniGene
591363
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Zwint
Rattus norvegicus
Zwint

References

Sebastiani et al. (2012)

Other variants which are also part of this study