LongevityMap variant group
Entry Details
- Longevity Association
- Significant
- Population
- Italian
- Study Design
- 722 unrelated subjects (401 women and 321 men, mean age, 62.83±25.30 years; 514 subjects aged <85y, mean age = 49 ± 16 year, and 208 individuals aged from 86 y to 104 y, mean age=96 ± 4) were analyzed to assess the impact of specific IRS-2, IGF1R and UCP2 gene variants with longevity
- Conclusions
- A IGF1R/Asp-IRS2/Val-UCP2 allele combination was associated with an increased probability to reach extreme old age (OD = 3.185 95% CI, 1.63–6.19; p < 0.0006)
Variants (4)
IGF1R
Gene details
- HGNC symbol
- IGF1R
- Aliases
- IGFR; CD221; IGFIR; JTK13
- Common name
- insulin like growth factor 1 receptor
- Description
- This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
- Other longevity studies of this gene
- 10
- OMIM
- 147370
- Ensembl
- ENSG00000140443
- UniProt/Swiss-Prot
- C9J5X1_HUMAN
- Entrez Gene
- 3480
- UniGene
- 643120
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
IRS2
Gene details
- HGNC symbol
- IRS2
- Aliases
- IRS-2
- Common name
- insulin receptor substrate 2
- Description
- This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 1
- OMIM
- 600797
- Ensembl
- ENSG00000185950
- UniProt/Swiss-Prot
- IRS2_HUMAN
- Entrez Gene
- 8660
- UniGene
- 442344
- HapMap
- View on HapMap
Homologs in model organisms
In other databases
UCP2
Gene details
- HGNC symbol
- UCP2
- Aliases
- UCPH; BMIQ4; SLC25A8
- Common name
- uncoupling protein 2
- Description
- Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. [provided by RefSeq, Jul 2008]
- Other longevity studies of this gene
- 7
- OMIM
- 601693
- Ensembl
- ENSG00000175567
- UniProt/Swiss-Prot
- A0A024R5N5_HUMAN
- Entrez Gene
- 7351
- UniGene
- 80658
- HapMap
- View on HapMap