LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
German
Study Design
Genome-wide association study comparing 664,472 autosomal SNPs in 763 long-lived individuals (mean age: 99.7 years) and 1085 controls (mean age: 60.2 years). Top SNPs from the GWAS were further investigated in an independent German sample comprised of 754 long-lived individuals (mean age: 96.9 years) and 860 controls (mean age: 67.3 years).
Conclusions
Thirty-two SNPs previously associated with longevity were not associated with longevity in this study

Variants (32)

No gene

1.
Identifier
rs1377638
Cytogenetic Location
2.
Identifier
rs579327
Cytogenetic Location
3.
Identifier
rs4393926
Cytogenetic Location
4.
Identifier
rs10069397
Cytogenetic Location
5.
Identifier
rs7717527
Cytogenetic Location
6.
Identifier
rs954295
Cytogenetic Location
7.
Identifier
rs522486
Cytogenetic Location

ANKRD55

1.
Identifier
rs415407
Cytogenetic Location
5q11.2
UCSC Genome Browser
View 5q11.2 on the UCSC genome browser

Gene details

HGNC symbol
ANKRD55
Aliases
 
Common name
ankyrin repeat domain 55 
Description
OMIM
615189
Ensembl
ENSG00000164512
UniProt/Swiss-Prot
ANR55_HUMAN
Entrez Gene
79722
UniGene
436214
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
ankrd55
Mus musculus
Ankrd55
Rattus norvegicus
Ankrd55

CELSR1

1.
Identifier
rs9615362
Cytogenetic Location
22q13.31
UCSC Genome Browser
View 22q13.31 on the UCSC genome browser

Gene details

HGNC symbol
CELSR1
Aliases
ME2; FMI2; CDHF9; HFMI2; ADGRC1 
Common name
cadherin EGF LAG seven-pass G-type receptor 1 
Description
The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. This particular member is a developmentally regulated, neural-specific gene which plays an unspecified role in early embryogenesis. [provided by RefSeq, Jul 2008]
OMIM
604523
Ensembl
ENSG00000075275
UniProt/Swiss-Prot
CELR1_HUMAN
Entrez Gene
9620
UniGene
252387
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
fmi-1
Danio rerio
celsr1a
Mus musculus
Celsr1

CRTAC1

1.
Identifier
rs508001
Cytogenetic Location
10q24.2
UCSC Genome Browser
View 10q24.2 on the UCSC genome browser

Gene details

HGNC symbol
CRTAC1
Aliases
ASPIC; ASPIC1; CEP-68 
Common name
cartilage acidic protein 1 
Description
This gene encodes a glycosylated extracellular matrix protein that is found in the interterritorial matrix of articular deep zone cartilage. This protein is used as a marker to distinguish chondrocytes from osteoblasts and mesenchymal stem cells in culture. The presence of FG-GAP motifs and an RGD integrin-binding motif suggests that this protein may be involved in cell-cell or cell-matrix interactions. Copy number alterations in this gene have been observed in neurofibromatosis type 1-associated glomus tumors. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
OMIM
606276
Ensembl
ENSG00000095713
UniProt/Swiss-Prot
CRAC1_HUMAN
Entrez Gene
55118
UniGene
500736
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
crtac1b
Mus musculus
Crtac1
Rattus norvegicus
Crtac1

CTNNA3

1.
Identifier
rs16922827
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

FAM98B

1.
Identifier
rs11073328
Cytogenetic Location
15q14
UCSC Genome Browser
View 15q14 on the UCSC genome browser

Gene details

HGNC symbol
FAM98B
Aliases
 
Common name
family with sequence similarity 98 member B 
Description
OMIM
616142
Ensembl
ENSG00000171262
UniProt/Swiss-Prot
FA98B_HUMAN
Entrez Gene
283742
UniGene
6799
HapMap
View on HapMap

Homologs in model organisms

Drosophila melanogaster
CG5913
Mus musculus
Fam98b
Rattus norvegicus
Fam98b

FGD5

1.
Identifier
rs294636
Cytogenetic Location
3p25.1
UCSC Genome Browser
View 3p25.1 on the UCSC genome browser

Gene details

HGNC symbol
FGD5
Aliases
ZFYVE23 
Common name
FYVE, RhoGEF and PH domain containing 5 
Description
OMIM
614788
Ensembl
ENSG00000154783
UniProt/Swiss-Prot
B7ZM68_HUMAN
Entrez Gene
152273
UniGene
412406
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
LOC100151562
Mus musculus
Fgd5
Rattus norvegicus
Fgd5

GORASP2

1.
Identifier
rs4668356
Cytogenetic Location
2q31.1
UCSC Genome Browser
View 2q31.1 on the UCSC genome browser

Gene details

HGNC symbol
GORASP2
Aliases
p59; GRS2; GOLPH6; GRASP55 
Common name
golgi reassembly stacking protein 2 
Description
This gene encodes a member of the Golgi reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation during apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming growth factor alpha and may function as a molecular chaperone. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
OMIM
608693
Ensembl
ENSG00000115806
UniProt/Swiss-Prot
GORS2_HUMAN
Entrez Gene
26003
UniGene
431317
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
CELE_Y42H9AR.1
Danio rerio
gorasp2
Drosophila melanogaster
Grasp65
Mus musculus
Gorasp2
Rattus norvegicus
Gorasp2
Schizosaccharomyces pombe
SPAC1D4.02c

HLA-DPB2

1.
Identifier
rs4713607
Cytogenetic Location
6p21.32
UCSC Genome Browser
View 6p21.32 on the UCSC genome browser

Gene details

HGNC symbol
HLA-DPB2
Aliases
DP2B; DPB2; DPbeta2; HLA-DP2B 
Common name
major histocompatibility complex, class II, DP beta 2 (pseudogene) 
Description
OMIM
Ensembl
ENSG00000224557
UniProt/Swiss-Prot
Entrez Gene
3116
UniGene
665450
HapMap
View on HapMap

Homologs in model organisms

No homologs found

IGF2BP1

1.
Identifier
rs1390154
Cytogenetic Location
17q21.32
UCSC Genome Browser
View 17q21.32 on the UCSC genome browser

Gene details

HGNC symbol
IGF2BP1
Aliases
IMP1; ZBP1; CRDBP; IMP-1; CRD-BP; VICKZ1 
Common name
insulin like growth factor 2 mRNA binding protein 1 
Description
This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
OMIM
608288
Ensembl
ENSG00000159217
UniProt/Swiss-Prot
IF2B1_HUMAN
Entrez Gene
10642
UniGene
144936
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
igf2bp1
Mus musculus
Igf2bp1
Rattus norvegicus
Igf2bp1

IL7

1.
Identifier
rs2717536
Cytogenetic Location
8q21.13
UCSC Genome Browser
View 8q21.13 on the UCSC genome browser

Gene details

HGNC symbol
IL7
Aliases
IL-7 
Common name
interleukin 7 
Description
The protein encoded by this gene is a cytokine important for B and T cell development. This cytokine and the hepatocyte growth factor (HGF) form a heterodimer that functions as a pre-pro-B cell growth-stimulating factor. This cytokine is found to be a cofactor for V(D)J rearrangement of the T cell receptor beta (TCRB) during early T cell development. This cytokine can be produced locally by intestinal epithelial and epithelial goblet cells, and may serve as a regulatory factor for intestinal mucosal lymphocytes. Knockout studies in mice suggested that this cytokine plays an essential role in lymphoid cell survival. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their presence in normal tissues has not been confirmed.[provided by RefSeq, Dec 2010]
OMIM
146660
Ensembl
ENSG00000104432
UniProt/Swiss-Prot
A0A0A0MTG5_HUMAN
Entrez Gene
3574
UniGene
591873
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Il7
Rattus norvegicus
Il7

In other databases

GenAge human genes
  • This gene is present as IL7

KIF26B

1.
Identifier
rs10924270
Cytogenetic Location
1q44
UCSC Genome Browser
View 1q44 on the UCSC genome browser

Gene details

HGNC symbol
KIF26B
Aliases
 
Common name
kinesin family member 26B 
Description
The protein encoded by this gene is an intracellular motor protein thought to transport organelles along microtubules. The encoded protein is required for kidney development. Elevated levels of this protein have been found in some breast and colorectal cancers. [provided by RefSeq, Mar 2017]
OMIM
614026
Ensembl
ENSG00000162849
UniProt/Swiss-Prot
B7WPD9_HUMAN
Entrez Gene
55083
UniGene
143134
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
uncharacterized_E7FD
Mus musculus
Kif26b
Rattus norvegicus
Kif26b

LINC01088

1.
Identifier
rs1455311
Cytogenetic Location
4q21.21
UCSC Genome Browser
View 4q21.21 on the UCSC genome browser

Gene details

HGNC symbol
LINC01088
Aliases
 
Common name
long intergenic non-protein coding RNA 1088 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
100505875
UniGene
480055
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC101928226

1.
Identifier
rs4916176
Cytogenetic Location
1q44
UCSC Genome Browser
View 1q44 on the UCSC genome browser

Gene details

HGNC symbol
LOC101928226
Aliases
 
Common name
uncharacterized LOC101928226 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
101928226
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC105372507

1.
Identifier
rs1810636
Cytogenetic Location
20p13
UCSC Genome Browser
View 20p13 on the UCSC genome browser

Gene details

HGNC symbol
LOC105372507
Aliases
 
Common name
uncharacterized LOC105372507 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105372507
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC105373938

1.
Identifier
rs2042831
Cytogenetic Location
2q37.2
UCSC Genome Browser
View 2q37.2 on the UCSC genome browser

Gene details

HGNC symbol
LOC105373938
Aliases
 
Common name
uncharacterized LOC105373938 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105373938
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

LOC105375856

1.
Identifier
rs1436013
Cytogenetic Location
8q12.1
UCSC Genome Browser
View 8q12.1 on the UCSC genome browser

Gene details

HGNC symbol
LOC105375856
Aliases
 
Common name
uncharacterized LOC105375856 
Description
OMIM
Ensembl
UniProt/Swiss-Prot
Entrez Gene
105375856
UniGene
HapMap
View on HapMap

Homologs in model organisms

No homologs found

MAVS

1.
Identifier
rs4815617
Cytogenetic Location
20p13
UCSC Genome Browser
View 20p13 on the UCSC genome browser

Gene details

HGNC symbol
MAVS
Aliases
IPS1; VISA; IPS-1; CARDIF 
Common name
mitochondrial antiviral signaling protein 
Description
This gene encodes an intermediary protein necessary in the virus-triggered beta interferon signaling pathways. It is required for activation of transcription factors which regulate expression of beta interferon and contributes to antiviral immunity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
OMIM
609676
Ensembl
ENSG00000088888
UniProt/Swiss-Prot
MAVS_HUMAN
Entrez Gene
57506
UniGene
570362
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
mavs
Mus musculus
Mavs
Rattus norvegicus
Mavs

MS4A15

1.
Identifier
rs7930940
Cytogenetic Location
11q12.2
UCSC Genome Browser
View 11q12.2 on the UCSC genome browser

Gene details

HGNC symbol
MS4A15
Aliases
 
Common name
membrane spanning 4-domains A15 
Description
OMIM
Ensembl
ENSG00000166961
UniProt/Swiss-Prot
B4DTI9_HUMAN
Entrez Gene
219995
UniGene
207465
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Ms4a15
Rattus norvegicus
Ms4a15

MSI2

1.
Identifier
rs792376
Cytogenetic Location
17q22
UCSC Genome Browser
View 17q22 on the UCSC genome browser

Gene details

HGNC symbol
MSI2
Aliases
MSI2H 
Common name
musashi RNA binding protein 2 
Description
This gene encodes an RNA-binding protein that is a member of the Musashi protein family. The encoded protein is transcriptional regulator that targets genes involved in development and cell cycle regulation. Mutations in this gene are associated with poor prognosis in certain types of cancers. This gene has also been shown to be rearranged in certain cancer cells. [provided by RefSeq, Apr 2016]
OMIM
607897
Ensembl
ENSG00000153944
UniProt/Swiss-Prot
B4DHE8_HUMAN
Entrez Gene
124540
UniGene
658922
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
msi2b
Mus musculus
Msi2
Rattus norvegicus
Msi2

PLCB3

1.
Identifier
rs2244621
Cytogenetic Location
11q13.1
UCSC Genome Browser
View 11q13.1 on the UCSC genome browser

Gene details

HGNC symbol
PLCB3
Aliases
 
Common name
phospholipase C beta 3 
Description
This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
OMIM
600230
Ensembl
ENSG00000149782
UniProt/Swiss-Prot
PLCB3_HUMAN
Entrez Gene
5331
UniGene
523761
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
plcb3
Mus musculus
Plcb3
Rattus norvegicus
Plcb3

RAPGEF4

1.
Identifier
rs6433379
Cytogenetic Location
2q31.1
UCSC Genome Browser
View 2q31.1 on the UCSC genome browser

Gene details

HGNC symbol
RAPGEF4
Aliases
EPAC; CGEF2; EPAC2; EPAC; 2; Nbla00496; CAMP-GEFII 
Common name
Rap guanine nucleotide exchange factor 4 
Description
OMIM
606058
Ensembl
ENSG00000091428
UniProt/Swiss-Prot
B7Z278_HUMAN
Entrez Gene
11069
UniGene
470646
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
rapgef4
Drosophila melanogaster
Epac
Mus musculus
Rapgef4

STX8

1.
Identifier
rs10521157
Cytogenetic Location
17p13.1
UCSC Genome Browser
View 17p13.1 on the UCSC genome browser

Gene details

HGNC symbol
STX8
Aliases
CARB 
Common name
syntaxin 8 
Description
The gene is a member of the syntaxin family. The encoded protein is involved in protein trafficking from early to late endosomes via vesicle fusion and exocytosis. A related pseudogene has been identified on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
OMIM
604203
Ensembl
ENSG00000170310
UniProt/Swiss-Prot
STX8_HUMAN
Entrez Gene
9482
UniGene
431109
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
stx8
Drosophila melanogaster
Syx8
Mus musculus
Stx8
Rattus norvegicus
Stx8

SYBU

1.
Identifier
rs3133926
Cytogenetic Location
8q23.2
UCSC Genome Browser
View 8q23.2 on the UCSC genome browser

Gene details

HGNC symbol
SYBU
Aliases
OCSYN; SNPHL; GOLSYN 
Common name
syntabulin 
Description
Syntabulin/GOLSYN is part of a kinesin motor-adaptor complex that is critical for the anterograde axonal transport of active zone components and contributes to activity-dependent presynaptic assembly during neuronal development (Cai et al., 2007 [PubMed 17611281]).[supplied by OMIM, Mar 2008]
OMIM
611568
Ensembl
ENSG00000147642
UniProt/Swiss-Prot
B7Z4D2_HUMAN
Entrez Gene
55638
UniGene
390738
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
sybu
Mus musculus
Sybu
Rattus norvegicus
Sybu

TCF19

1.
Identifier
rs2073724
Cytogenetic Location
6p21.33
UCSC Genome Browser
View 6p21.33 on the UCSC genome browser

Gene details

HGNC symbol
TCF19
Aliases
SC1; TCF-19 
Common name
transcription factor 19 
Description
This gene encodes a protein that contains a PHD-type zinc finger domain and likely functions as a transcription factor. The encoded protein plays a role proliferation and apoptosis of pancreatic beta cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
OMIM
600912
Ensembl
ENSG00000137310
UniProt/Swiss-Prot
TCF19_HUMAN
Entrez Gene
6941
UniGene
584807
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
tcf19l
Mus musculus
Tcf19

ZFAT

1.
Identifier
rs1036819
Cytogenetic Location
8q24.22
UCSC Genome Browser
View 8q24.22 on the UCSC genome browser

Gene details

HGNC symbol
ZFAT
Aliases
AITD3; ZFAT1; ZNF406 
Common name
zinc finger and AT-hook domain containing 
Description
This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Nov 2009]
OMIM
610931
Ensembl
ENSG00000066827
UniProt/Swiss-Prot
B7Z6H1_HUMAN
Entrez Gene
57623
UniGene
446172
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
mep-1
Danio rerio
zfat
Mus musculus
Zfat
Rattus norvegicus
Zfat

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as mep-1

References

Nebel et al. (2011)

Other variants which are also part of this study