LongevityMap variant group
Entry Details
- Longevity Association
- Significant
- Population
- Dutch
- Study Design
- Studied genetic variation in the insulin/insulin-like growth factor signaling (IIS) pathway and in the telomere maintenance pathway for associations with longevity in 403 unrelated nonagenarians and 1,670 younger controls
- Conclusions
- SNP sets in both pathways were associated with longevity with the association of the IIS pathway defined by several genes (AKT1, AKT3, FOXO4, IGF2, INS, PIK3CA, SGK, SGK2, and YWHAG), while the telomere maintenance pathway seemed to be mainly determined by POT1 since only these genes showed an association with longevity
Variants (10)
- Gene summary:
- AKT1 (1)
- AKT3 (1)
- FOXO4 (1)
- IGF2 (1)
- INS (1)
- PIK3CA (1)
- POT1 (1)
- SGK1 (1)
- SGK3 (1)
- YWHAG (1)
AKT1
Gene details
- HGNC symbol
- AKT1
- Aliases
- AKT; PKB; RAC; CWS6; PRKBA; PKB-ALPHA; RAC-ALPHA
- Common name
- AKT serine/threonine kinase 1
- Description
- The serine-threonine protein kinase encoded by the AKT1 gene is catalytically inactive in serum-starved primary and immortalized fibroblasts. AKT1 and the related AKT2 are activated by platelet-derived growth factor. The activation is rapid and specific, and it is abrogated by mutations in the pleckstrin homology domain of AKT1. It was shown that the activation occurs through phosphatidylinositol 3-kinase. In the developing nervous system AKT is a critical mediator of growth factor-induced neuronal survival. Survival factors can suppress apoptosis in a transcription-independent manner by activating the serine/threonine kinase AKT1, which then phosphorylates and inactivates components of the apoptotic machinery. Mutations in this gene have been associated with the Proteus syndrome. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2011]
- Other longevity studies of this gene
- 9
- OMIM
- 164730
- Ensembl
- ENSG00000142208
- UniProt/Swiss-Prot
- AKT1_HUMAN
- Entrez Gene
- 207
- UniGene
- 525622
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
AKT3
Gene details
- HGNC symbol
- AKT3
- Aliases
- MPPH; PKBG; MPPH2; PRKBG; STK-2; PKB-GAMMA; RAC-gamma; RAC-PK-gamma
- Common name
- AKT serine/threonine kinase 3
- Description
- The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]
- OMIM
- 611223
- Ensembl
- ENSG00000117020
- UniProt/Swiss-Prot
- AKT3_HUMAN
- Entrez Gene
- 10000
- UniGene
- 498292
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as AKT3
FOXO4
Gene details
- HGNC symbol
- FOXO4
- Aliases
- AFX; AFX1; MLLT7
- Common name
- forkhead box O4
- Description
- This gene encodes a member of the O class of winged helix/forkhead transcription factor family. Proteins encoded by this class are regulated by factors involved in growth and differentiation indicating they play a role in these processes. A translocation involving this gene on chromosome X and the homolog of the Drosophila trithorax gene, encoding a DNA binding protein, located on chromosome 11 is associated with leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
- Other longevity studies of this gene
- 5
- OMIM
- 300033
- Ensembl
- ENSG00000184481
- UniProt/Swiss-Prot
- FOXO4_HUMAN
- Entrez Gene
- 4303
- UniGene
- 584654
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- LOC563719
- Drosophila melanogaster
- foxo
- Mus musculus
- Foxo4
- Rattus norvegicus
- Foxo4
- Saccharomyces cerevisiae
- FHL1
- Schizosaccharomyces pombe
- sep1
In other databases
IGF2
Gene details
- HGNC symbol
- IGF2
- Aliases
- GRDF; IGF-II; PP9974; C11orf43
- Common name
- insulin like growth factor 2
- Description
- This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
- Other longevity studies of this gene
- 6
- OMIM
- 147470
- Ensembl
- ENSG00000167244
- UniProt/Swiss-Prot
- E3UN46_HUMAN
- Entrez Gene
- 3481
- UniGene
- 272259
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as IGF2
INS
Gene details
- HGNC symbol
- INS
- Aliases
- IDDM; ILPR; IRDN; IDDM1; IDDM2; MODY10
- Common name
- insulin
- Description
- After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide. Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at the 5' region and with the IGF2 gene at the 3' region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
- Other longevity studies of this gene
- 5
- OMIM
- 176730
- Ensembl
- ENSG00000254647
- UniProt/Swiss-Prot
- I3WAC9_HUMAN
- Entrez Gene
- 3630
- UniGene
- 272259
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge human genes
- This gene is present as INS
PIK3CA
Gene details
- HGNC symbol
- PIK3CA
- Aliases
- MCM; CWS5; MCAP; PI3K; CLOVE; MCMTC; PI3K-alpha; p110-alpha
- Common name
- phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
- Description
- Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]
- Other longevity studies of this gene
- 3
- OMIM
- 171834
- Ensembl
- ENSG00000121879
- UniProt/Swiss-Prot
- PK3CA_HUMAN
- Entrez Gene
- 5290
- UniGene
- 553498
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- LOC100334726
- Mus musculus
- Pik3ca
- Rattus norvegicus
- Pik3ca
In other databases
POT1
Gene details
- HGNC symbol
- POT1
- Aliases
- GLM9; CMM10; HPOT1
- Common name
- protection of telomeres 1
- Description
- This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance. Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination, catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 5
- OMIM
- 606478
- Ensembl
- ENSG00000128513
- UniProt/Swiss-Prot
- A0A024R739_HUMAN
- Entrez Gene
- 25913
- UniGene
- 31968
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as POT1
SGK1
Gene details
- HGNC symbol
- SGK1
- Aliases
- SGK
- Common name
- serum/glucocorticoid regulated kinase 1
- Description
- This gene encodes a serine/threonine protein kinase that plays an important role in cellular stress response. This kinase activates certain potassium, sodium, and chloride channels, suggesting an involvement in the regulation of processes such as cell survival, neuronal excitability, and renal sodium excretion. High levels of expression of this gene may contribute to conditions such as hypertension and diabetic nephropathy. Several alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
- Other longevity studies of this gene
- 1
- OMIM
- 602958
- Ensembl
- ENSG00000118515
- UniProt/Swiss-Prot
- B7Z325_HUMAN
- Entrez Gene
- 6446
- UniGene
- 510078
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
SGK3
Gene details
- HGNC symbol
- SGK3
- Aliases
- CISK; SGK2; SGKL
- Common name
- serum/glucocorticoid regulated kinase family member 3
- Description
- This gene is a member of the Ser/Thr protein kinase family and encodes a phosphoprotein with a PX (phox homology) domain. The protein phosphorylates several target proteins and has a role in neutral amino acid transport and activation of potassium and chloride channels. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
- OMIM
- 607591
- Ensembl
- ENSG00000104205
- UniProt/Swiss-Prot
- A0A024R807_HUMAN
- Entrez Gene
- 23678
- UniGene
- 613417
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as YPK1
YWHAG
Gene details
- HGNC symbol
- YWHAG
- Aliases
- PPP1R170; 14-3-3GAMMA
- Common name
- tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
- Description
- This gene product belongs to the 14-3-3 family of proteins which mediate signal transduction by binding to phosphoserine-containing proteins. This highly conserved protein family is found in both plants and mammals, and this protein is 100% identical to the rat ortholog. It is induced by growth factors in human vascular smooth muscle cells, and is also highly expressed in skeletal and heart muscles, suggesting an important role for this protein in muscle tissue. It has been shown to interact with RAF1 and protein kinase C, proteins involved in various signal transduction pathways. [provided by RefSeq, Jul 2008]
- OMIM
- 605356
- Ensembl
- ENSG00000170027
- UniProt/Swiss-Prot
- 1433G_HUMAN
- Entrez Gene
- 7532
- UniGene
- 744840
- HapMap
- View on HapMap