LongevityMap variant group
Entry Details
- Longevity Association
- Non-significant
- Population
- Dutch
- Study Design
- A set of alleles associated with age-related diseases was tested for association with human longevity in 723 nonagenarian siblings and 721 unrelated younger controls plus 979 singleton individuals >85 years of age and 1,167 younger controls
- Conclusions
- No differences were observed in disease risk allele frequency between long-lived individuals and controls. No individual allele was significantly associated with survival to old age after controlling for multiple testing.
Variants (30)
- Gene summary:
- No gene (7)
- CASC8 (2)
- CCAT2 (1)
- CDKAL1 (1)
- CDKN2B-AS1 (1)
- CELSR2 (1)
- FGFR2 (1)
- FTO (1)
- HNF1B (2)
- HYKK (1)
- IGF2BP2 (1)
- KCNJ11 (1)
- LINC02143 (1)
- MTHFD1L (1)
- PPARG (1)
- SLC30A8 (1)
- SMAD7 (1)
- TCF7L2 (1)
- TMEFF2 (1)
- TOX3 (2)
- WFS1 (1)
No gene
CASC8
Gene details
- HGNC symbol
- CASC8
- Aliases
- CARLo-1; LINC00860
- Common name
- cancer susceptibility 8 (non-protein coding)
- Description
- Other longevity studies of this gene
- 1
- OMIM
- Ensembl
- ENSG00000246228
- UniProt/Swiss-Prot
- Entrez Gene
- 727677
- UniGene
- 673248
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
CCAT2
Gene details
- HGNC symbol
- CCAT2
- Aliases
- NCCP1; LINC00873
- Common name
- colon cancer associated transcript 2 (non-protein coding)
- Description
- OMIM
- Ensembl
- ENSG00000280997
- UniProt/Swiss-Prot
- Entrez Gene
- 101805488
- UniGene
- 745578
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
CDKAL1
Gene details
- HGNC symbol
- CDKAL1
- Aliases
- Common name
- CDK5 regulatory subunit associated protein 1 like 1
- Description
- The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]
- OMIM
- 611259
- Ensembl
- ENSG00000145996
- UniProt/Swiss-Prot
- CDKAL_HUMAN
- Entrez Gene
- 54901
- UniGene
- 657604
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- Y92H12BL.1
- Danio rerio
- cdkal1
- Drosophila melanogaster
- CG6550
- Mus musculus
- Cdkal1
CDKN2B-AS1
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
CELSR2
Gene details
- HGNC symbol
- CELSR2
- Aliases
- EGFL2; MEGF3; ADGRC2; CDHF10; Flamingo1
- Common name
- cadherin EGF LAG seven-pass G-type receptor 2
- 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. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]
- OMIM
- 604265
- Ensembl
- ENSG00000143126
- UniProt/Swiss-Prot
- CELR2_HUMAN
- Entrez Gene
- 1952
- UniGene
- 57652
- HapMap
- View on HapMap
Homologs in model organisms
FGFR2
Gene details
- HGNC symbol
- FGFR2
- Aliases
- BEK; JWS; BBDS; CEK3; CFD1; ECT1; KGFR; TK14; TK25; BFR-1; CD332; K-SAM
- Common name
- fibroblast growth factor receptor 2
- Description
- The protein encoded by this gene is a member of the fibroblast growth factor receptor 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 is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
- OMIM
- 176943
- Ensembl
- ENSG00000066468
- UniProt/Swiss-Prot
- A0A141AXF1_HUMAN
- Entrez Gene
- 2263
- UniGene
- 533683
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge
- This gene is present as FGFR2
FTO
Gene details
- HGNC symbol
- FTO
- Aliases
- GDFD; ALKBH9; BMIQ14
- Common name
- FTO, alpha-ketoglutarate dependent dioxygenase
- Description
- This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]
- OMIM
- 610966
- Ensembl
- ENSG00000140718
- UniProt/Swiss-Prot
- A0A1B0GTC5_HUMAN
- Entrez Gene
- 79068
- UniGene
- 528833
- HapMap
- View on HapMap
Homologs in model organisms
HNF1B
Gene details
- HGNC symbol
- HNF1B
- Aliases
- FJHN; HNF2; LFB3; TCF2; HPC11; LF-B3; MODY5; TCF-2; VHNF1; HNF-1B; HNF1beta; HNF-1-beta
- Common name
- HNF1 homeobox B
- Description
- This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
- Other longevity studies of this gene
- 1
- OMIM
- 189907
- Ensembl
- ENSG00000275410
- UniProt/Swiss-Prot
- A0A087WZC2_HUMAN
- Entrez Gene
- 6928
- UniGene
- 191144
- HapMap
- View on HapMap
Homologs in model organisms
HYKK
Gene details
- HGNC symbol
- HYKK
- Aliases
- AGPHD1
- Common name
- hydroxylysine kinase
- Description
- OMIM
- 614681
- Ensembl
- ENSG00000188266
- UniProt/Swiss-Prot
- HYKK_HUMAN
- Entrez Gene
- 123688
- UniGene
- 307962
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- LOC559635
- Drosophila melanogaster
- CG31751-RA
- Mus musculus
- Agphd1
- Rattus norvegicus
- Agphd1
IGF2BP2
Gene details
- HGNC symbol
- IGF2BP2
- Aliases
- IMP2; IMP-2; VICKZ2
- Common name
- insulin like growth factor 2 mRNA binding protein 2
- Description
- This gene encodes a protein that binds the 5' UTR of insulin-like growth factor 2 (IGF2) mRNA and regulates its translation. It plays an important role in metabolism and variation in this gene is associated with susceptibility to diabetes. Alternative splicing and promoter usage results in multiple transcript variants. Related pseudogenes are found on several chromosomes. [provided by RefSeq, Sep 2016]
- OMIM
- 608289
- Ensembl
- ENSG00000073792
- UniProt/Swiss-Prot
- B3FTN5_HUMAN
- Entrez Gene
- 10644
- UniGene
- 35354
- HapMap
- View on HapMap
Homologs in model organisms
KCNJ11
Gene details
- HGNC symbol
- KCNJ11
- Aliases
- BIR; HHF2; PHHI; IKATP; TNDM3; KIR6.2; MODY13
- Common name
- potassium voltage-gated channel subfamily J member 11
- Description
- Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI), an autosomal recessive disorder characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM), transient neonatal diabetes mellitus type 3 (TNDM3), and permanent neonatal diabetes mellitus (PNDM). Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
- OMIM
- 600937
- Ensembl
- ENSG00000187486
- UniProt/Swiss-Prot
- B2RC52_HUMAN
- Entrez Gene
- 3767
- UniGene
- 248141
- HapMap
- View on HapMap
Homologs in model organisms
LINC02143
Gene details
- HGNC symbol
- LINC02143
- Aliases
- Common name
- long intergenic non-protein coding RNA 2143
- Description
- OMIM
- Ensembl
- ENSG00000253236
- UniProt/Swiss-Prot
- Entrez Gene
- 101927835
- UniGene
- 735171
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
MTHFD1L
Gene details
- HGNC symbol
- MTHFD1L
- Aliases
- FTHFSDC1; MTC1THFS; dJ292B18.2
- Common name
- methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
- Description
- The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
- OMIM
- 611427
- Ensembl
- ENSG00000120254
- UniProt/Swiss-Prot
- A0A087WVM4_HUMAN
- Entrez Gene
- 25902
- UniGene
- 591343
- HapMap
- View on HapMap
Homologs in model organisms
- Caenorhabditis elegans
- CELE_K07E3.4
- Danio rerio
- mthfd1l
- Mus musculus
- Mthfd1l
- Rattus norvegicus
- Mthfd1l
- Saccharomyces cerevisiae
- MIS1
- Schizosaccharomyces pombe
- ade9
In other databases
- GenAge model organism genes
- A homolog of this gene for Saccharomyces cerevisiae is present as MIS1
PPARG
Gene details
- HGNC symbol
- PPARG
- Aliases
- GLM1; CIMT1; NR1C3; PPARG1; PPARG2; PPARgamma
- Common name
- peroxisome proliferator activated receptor gamma
- Description
- This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 3
- OMIM
- 601487
- Ensembl
- ENSG00000132170
- UniProt/Swiss-Prot
- D2KUA6_HUMAN
- Entrez Gene
- 5468
- UniGene
- 162646
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
SLC30A8
Gene details
- HGNC symbol
- SLC30A8
- Aliases
- ZNT8; ZnT-8
- Common name
- solute carrier family 30 member 8
- Description
- The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
- OMIM
- 611145
- Ensembl
- ENSG00000164756
- UniProt/Swiss-Prot
- ZNT8_HUMAN
- Entrez Gene
- 169026
- UniGene
- 532270
- HapMap
- View on HapMap
Homologs in model organisms
SMAD7
Gene details
- HGNC symbol
- SMAD7
- Aliases
- CRCS3; MADH7; MADH8
- Common name
- SMAD family member 7
- Description
- The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
- OMIM
- 602932
- Ensembl
- ENSG00000101665
- UniProt/Swiss-Prot
- B3KYA8_HUMAN
- Entrez Gene
- 4092
- UniGene
- 465087
- HapMap
- View on HapMap
Homologs in model organisms
TCF7L2
Gene details
- HGNC symbol
- TCF7L2
- Aliases
- TCF4; TCF-4
- Common name
- transcription factor 7 like 2
- Description
- This gene encodes a high mobility group (HMG) box-containing transcription factor that plays a key role in the Wnt signaling pathway. The protein has been implicated in blood glucose homeostasis. Genetic variants of this gene are associated with increased risk of type 2 diabetes. Several transcript variants encoding multiple different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
- OMIM
- 602228
- Ensembl
- ENSG00000148737
- UniProt/Swiss-Prot
- A0A0A0MTL7_HUMAN
- Entrez Gene
- 6934
- UniGene
- 593995
- HapMap
- View on HapMap
Homologs in model organisms
TMEFF2
Gene details
- HGNC symbol
- TMEFF2
- Aliases
- TR; HPP1; TPEF; TR-2; TENB2; CT120.2
- Common name
- transmembrane protein with EGF like and two follistatin like domains 2
- Description
- This gene encodes a member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene and a tumor suppressor depending on the cellular context and may regulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identified that arise from both an alternative splice variant and ectodomain shedding. Additionally, this gene has been found to be hypermethylated in multiple cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
- OMIM
- 605734
- Ensembl
- ENSG00000144339
- UniProt/Swiss-Prot
- TEFF2_HUMAN
- Entrez Gene
- 23671
- UniGene
- 144513
- HapMap
- View on HapMap
Homologs in model organisms
TOX3
Gene details
- HGNC symbol
- TOX3
- Aliases
- CAGF9; TNRC9
- Common name
- TOX high mobility group box family member 3
- Description
- The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]
- Other longevity studies of this gene
- 1
- OMIM
- 611416
- Ensembl
- ENSG00000103460
- UniProt/Swiss-Prot
- TOX3_HUMAN
- Entrez Gene
- 27324
- UniGene
- 132574
- HapMap
- View on HapMap
Homologs in model organisms
WFS1
Gene details
- HGNC symbol
- WFS1
- Aliases
- WFS; WFRS; WFSL; CTRCT41
- Common name
- wolframin ER transmembrane glycoprotein
- Description
- This gene encodes a transmembrane protein, which is located primarily in the endoplasmic reticulum and ubiquitously expressed with highest levels in brain, pancreas, heart, and insulinoma beta-cell lines. Mutations in this gene are associated with Wolfram syndrome, also called DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), an autosomal recessive disorder. The disease affects the brain and central nervous system. Mutations in this gene can also cause autosomal dominant deafness 6 (DFNA6), also known as DFNA14 or DFNA38. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]
- OMIM
- 606201
- Ensembl
- ENSG00000109501
- UniProt/Swiss-Prot
- A0A0S2Z4V6_HUMAN
- Entrez Gene
- 7466
- UniGene
- 518602
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
- CellAge gene expression
- This gene is present as WFS1