LongevityMap variant group

Entry Details

Longevity Association
Non-significant
Population
Korean
Study Design
463 biomarkers in 176 disease associated genes were examined in 137 long lived individuals (>90 y, 59.1% female, 96.73 ± 3.97 y) and 213 young controls (12-14 y, 39.4% female, 12.93 ± 0.80)
Conclusions
Associations between several genes and longevity were detected at a P-value less than 0.01, though most were not significant after correcting for multiple hypothesis testing

Variants (11)

ABCC8

1.
Identifier
rs757110
Cytogenetic Location
11p15.1
UCSC Genome Browser
View 11p15.1 on the UCSC genome browser

Gene details

HGNC symbol
ABCC8
Aliases
HI; SUR; HHF1; MRP8; PHHI; SUR1; ABC36; HRINS; TNDM2; SUR1delta2 
Common name
ATP binding cassette subfamily C member 8 
Description
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]
Other longevity studies of this gene
1
OMIM
600509
Ensembl
ENSG00000006071
UniProt/Swiss-Prot
ABCC8_HUMAN
Entrez Gene
6833
UniGene
54470
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
abcc8
Drosophila melanogaster
Sur
Mus musculus
Abcc8
Rattus norvegicus
Abcc8

ADCY2

1.
Identifier
rs326146
Cytogenetic Location
5p15.31
UCSC Genome Browser
View 5p15.31 on the UCSC genome browser
2.
Identifier
rs326175
Cytogenetic Location
5p15.31
UCSC Genome Browser
View 5p15.31 on the UCSC genome browser

Gene details

HGNC symbol
ADCY2
Aliases
AC2; HBAC2 
Common name
adenylate cyclase 2 
Description
This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008]
Other longevity studies of this gene
1
OMIM
103071
Ensembl
ENSG00000078295
UniProt/Swiss-Prot
ADCY2_HUMAN
Entrez Gene
108
UniGene
481545
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
acy-4
Danio rerio
adcy2b
Mus musculus
Adcy2
Rattus norvegicus
Adcy2

ALDH2

1.
Identifier
rs671
Cytogenetic Location
12q24.12
UCSC Genome Browser
View 12q24.12 on the UCSC genome browser

Gene details

HGNC symbol
ALDH2
Aliases
ALDM; ALDHI; ALDH-E2 
Common name
aldehyde dehydrogenase 2 family (mitochondrial) 
Description
This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016]
OMIM
100650
Ensembl
ENSG00000111275
UniProt/Swiss-Prot
ALDH2_HUMAN
Entrez Gene
217
UniGene
604551
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
aldh2a
Mus musculus
Aldh2
Rattus norvegicus
Aldh2

CDK10

1.
Identifier
rs2075880
Cytogenetic Location
16q24.3
UCSC Genome Browser
View 16q24.3 on the UCSC genome browser

Gene details

HGNC symbol
CDK10
Aliases
PISSLRE 
Common name
cyclin dependent kinase 10 
Description
The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. This kinase has been shown to play a role in cellular proliferation and its function is limited to cell cycle G2-M phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
OMIM
603464
Ensembl
ENSG00000185324
UniProt/Swiss-Prot
B7Z537_HUMAN
Entrez Gene
8558
UniGene
699177
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
cdk10
Drosophila melanogaster
cdc2rk
Mus musculus
Cdk10
Rattus norvegicus
Cdk10

IL12RB2

1.
Identifier
rs2030071
Cytogenetic Location
1p31.3
UCSC Genome Browser
View 1p31.3 on the UCSC genome browser

Gene details

HGNC symbol
IL12RB2
Aliases
 
Common name
interleukin 12 receptor subunit beta 2 
Description
The protein encoded by this gene is a type I transmembrane protein identified as a subunit of the interleukin 12 receptor complex. The coexpression of this and IL12RB1 proteins was shown to lead to the formation of high-affinity IL12 binding sites and reconstitution of IL12 dependent signaling. The expression of this gene is up-regulated by interferon gamma in Th1 cells, and plays a role in Th1 cell differentiation. The up-regulation of this gene is found to be associated with a number of infectious diseases, such as Crohn's disease and leprosy, which is thought to contribute to the inflammatory response and host defense. Several transcript variants encoding different isoforms and non-protein coding transcripts have been found for this gene. [provided by RefSeq, Apr 2012]
OMIM
601642
Ensembl
ENSG00000081985
UniProt/Swiss-Prot
A0A0A0MTN7_HUMAN
Entrez Gene
3595
UniGene
479347
HapMap
View on HapMap

Homologs in model organisms

Danio rerio
uncharacterized_E9QH
Mus musculus
Il12rb2
Rattus norvegicus
Il12rb2

JAK2

1.
Identifier
rs2274471
Cytogenetic Location
9p24.1
UCSC Genome Browser
View 9p24.1 on the UCSC genome browser

Gene details

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

Homologs in model organisms

Danio rerio
jak2b
Mus musculus
Jak2
Rattus norvegicus
Jak2

In other databases

GenAge human genes
  • This gene is present as JAK2

MGP

1.
Identifier
rs1800802
Cytogenetic Location
12p12.3
UCSC Genome Browser
View 12p12.3 on the UCSC genome browser

Gene details

HGNC symbol
MGP
Aliases
NTI; GIG36; MGLAP 
Common name
matrix Gla protein 
Description
This gene encodes a member of the osteocalcin/matrix Gla family of proteins. The encoded vitamin K-dependent protein is secreted by chondrocytes and vascular smooth muscle cells, and functions as a physiological inhibitor of ectopic tissue calcification. Carboxylation status of the encoded protein is associated with calcification of the vasculature in human patients with cardiovascular disease and calcification of the synovial membranes in osteoarthritis patients. Mutations in this gene cause Keutel syndrome in human patients, which is characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and facial hypoplasia. [provided by RefSeq, Sep 2016]
OMIM
154870
Ensembl
ENSG00000111341
UniProt/Swiss-Prot
A0A024RAX0_HUMAN
Entrez Gene
4256
UniGene
365706
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Mgp
Rattus norvegicus
Mgp

In other databases

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

PIK3C2G

1.
Identifier
rs4237973
Cytogenetic Location
12p12.3
UCSC Genome Browser
View 12p12.3 on the UCSC genome browser

Gene details

HGNC symbol
PIK3C2G
Aliases
PI3K-C2GAMMA; PI3K-C2-gamma 
Common name
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 gamma 
Description
The protein encoded by this gene belongs to the phosphoinositide 3-kinase (PI3K) family. PI3-kinases play roles in signaling pathways involved in cell proliferation, oncogenic transformation, cell survival, cell migration, and intracellular protein trafficking. This protein contains a lipid kinase catalytic domain as well as a C-terminal C2 domain, a characteristic of class II PI3-kinases. C2 domains act as calcium-dependent phospholipid binding motifs that mediate translocation of proteins to membranes, and may also mediate protein-protein interactions. This gene may play a role in several diseases, including type II diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
OMIM
609001
Ensembl
ENSG00000139144
UniProt/Swiss-Prot
B7ZLY6_HUMAN
Entrez Gene
5288
UniGene
22500
HapMap
View on HapMap

Homologs in model organisms

Caenorhabditis elegans
piki-1
Mus musculus
Pik3c2g
Rattus norvegicus
Pik3c2g

PPP1R1A

1.
Identifier
rs1691595
Cytogenetic Location
12q13.2
UCSC Genome Browser
View 12q13.2 on the UCSC genome browser

Gene details

HGNC symbol
PPP1R1A
Aliases
I1; IPP1 
Common name
protein phosphatase 1 regulatory inhibitor subunit 1A 
Description
OMIM
613246
Ensembl
ENSG00000135447
UniProt/Swiss-Prot
PPR1A_HUMAN
Entrez Gene
5502
UniGene
505662
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Ppp1r1a
Rattus norvegicus
Ppp1r1a

TNFSF11

1.
Identifier
rs1054016
Cytogenetic Location
13q14.11
UCSC Genome Browser
View 13q14.11 on the UCSC genome browser

Gene details

HGNC symbol
TNFSF11
Aliases
ODF; OPGL; sOdf; CD254; OPTB2; RANKL; TNLG6B; TRANCE; hRANKL2 
Common name
TNF superfamily member 11 
Description
This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]
OMIM
602642
Ensembl
ENSG00000120659
UniProt/Swiss-Prot
Q54A98_HUMAN
Entrez Gene
8600
UniGene
333791
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Tnfsf11
Rattus norvegicus
uncharacterized_D3ZX

References

Park et al. (2009)

Other variants which are also part of this study