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)
- Gene summary:
- ABCC8 (1)
- ADCY2 (2)
- ALDH2 (1)
- CDK10 (1)
- IL12RB2 (1)
- JAK2 (1)
- MGP (1)
- PIK3C2G (1)
- PPP1R1A (1)
- TNFSF11 (1)
ABCC8
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
ADCY2
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
ALDH2
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
In other databases
- CellAge
- This gene is present as ALDH2
CDK10
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
IL12RB2
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
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
In other databases
MGP
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
In other databases
- GenDR gene expression
- A homolog of this gene for Mus musculus is present as Mgp
PIK3C2G
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
PPP1R1A
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
TNFSF11
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