LongevityMap variant group
Entry Details
- Longevity Association
- Non-significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study for longevity-related traits in up to 1345 Framingham Study participants from 330 families; 713 participants achieved age 65 years or greater. A total of 79 potential candidate genes and regions associated with longevity were also studied.
- Conclusions
- Although no genome-wide associations were significant, mutiple SNPs and genes had suggestive associations with both age at death and morbidity-free survival at age 65 years
Variants (16)
- Gene summary:
- No gene (8)
- ACSS3 (1)
- ALPK1 (1)
- CNTN5 (1)
- GALNT14 (1)
- LOC105370194 (1)
- MADD (1)
- PPP1R9A (1)
- STARD13 (1)
No gene
ACSS3
Gene details
- HGNC symbol
- ACSS3
- Aliases
- Common name
- acyl-CoA synthetase short-chain family member 3
- Description
- OMIM
- 614356
- Ensembl
- ENSG00000111058
- UniProt/Swiss-Prot
- A0A0B4J1R2_HUMAN
- Entrez Gene
- 79611
- UniGene
- 259559
- HapMap
- View on HapMap
Homologs in model organisms
ALPK1
Gene details
- HGNC symbol
- ALPK1
- Aliases
- LAK; 8430410J10Rik
- Common name
- alpha kinase 1
- Description
- This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
- OMIM
- 607347
- Ensembl
- ENSG00000073331
- UniProt/Swiss-Prot
- ALPK1_HUMAN
- Entrez Gene
- 80216
- UniGene
- 652825
- HapMap
- View on HapMap
Homologs in model organisms
- Danio rerio
- uncharacterized_E7F7
- Mus musculus
- Alpk1
- Rattus norvegicus
- Alpk1
CNTN5
Gene details
- HGNC symbol
- CNTN5
- Aliases
- NB-2; HNB-2s
- Common name
- contactin 5
- Description
- The protein encoded by this gene is a member of the immunoglobulin superfamily, and contactin family, which mediate cell surface interactions during nervous system development. This protein is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
- Other longevity studies of this gene
- 1
- OMIM
- 607219
- Ensembl
- ENSG00000149972
- UniProt/Swiss-Prot
- CNTN5_HUMAN
- Entrez Gene
- 53942
- UniGene
- 656783
- HapMap
- View on HapMap
Homologs in model organisms
GALNT14
Gene details
- HGNC symbol
- GALNT14
- Aliases
- GALNT15; GalNac-T10; GalNac-T14
- Common name
- polypeptide N-acetylgalactosaminyltransferase 14
- Description
- This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]
- OMIM
- 608225
- Ensembl
- ENSG00000158089
- UniProt/Swiss-Prot
- B7Z5C5_HUMAN
- Entrez Gene
- 79623
- UniGene
- 468058
- HapMap
- View on HapMap
Homologs in model organisms
LOC105370194
Gene details
- HGNC symbol
- LOC105370194
- Aliases
- Common name
- uncharacterized LOC105370194
- Description
- OMIM
- Ensembl
- UniProt/Swiss-Prot
- Entrez Gene
- 105370194
- UniGene
- HapMap
- View on HapMap
Homologs in model organisms
No homologs found
MADD
Gene details
- HGNC symbol
- MADD
- Aliases
- DENN; IG20; RAB3GEP
- Common name
- MAP kinase activating death domain
- Description
- Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
- OMIM
- 603584
- Ensembl
- ENSG00000110514
- UniProt/Swiss-Prot
- A0A0A0MRB5_HUMAN
- Entrez Gene
- 8567
- UniGene
- 82548
- HapMap
- View on HapMap
Homologs in model organisms
PPP1R9A
Gene details
- HGNC symbol
- PPP1R9A
- Aliases
- NRB1; NRBI; Neurabin-I
- Common name
- protein phosphatase 1 regulatory subunit 9A
- Description
- This gene is imprinted, and located in a cluster of imprinted genes on chromosome 7q12. This gene is transcribed in both neuronal and multiple embryonic tissues, and it is maternally expressed mainly in embryonic skeletal muscle tissues and biallelically expressed in other embryonic tissues. The protein encoded by this gene includes a PDZ domain and a sterile alpha motif (SAM). It is a regulatory subunit of protein phosphatase I, and controls actin cytoskeleton reorganization. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
- Other longevity studies of this gene
- 5
- OMIM
- 602468
- Ensembl
- ENSG00000158528
- UniProt/Swiss-Prot
- A4D1I0_HUMAN
- Entrez Gene
- 55607
- UniGene
- 21816
- HapMap
- View on HapMap
Homologs in model organisms
STARD13
Gene details
- HGNC symbol
- STARD13
- Aliases
- DLC2; GT650; ARHGAP37; LINC00464
- Common name
- StAR related lipid transfer domain containing 13
- Description
- This gene encodes a protein which contains an N-terminal sterile alpha motif (SAM) for protein-protein interactions, followed by an ATP/GTP-binding motif, a GTPase-activating protein (GAP) domain, and a C-terminal STAR-related lipid transfer (START) domain. It may be involved in regulation of cytoskeletal reorganization, cell proliferation, and cell motility, and acts as a tumor suppressor in hepatoma cells. The gene is located in a region of chromosome 13 that is associated with loss of heterozygosity in hepatocellular carcinomas. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
- OMIM
- 609866
- Ensembl
- ENSG00000133121
- UniProt/Swiss-Prot
- A0A024RDV4_HUMAN
- Entrez Gene
- 90627
- UniGene
- 156551
- HapMap
- View on HapMap