LongevityMap variant

Entry Details

Longevity Association: Significant
Population: Japanese
Study Design: 5 intronic and 1 exonic polymorphisms were examined in 122 semisupercentenarians (older than 105, 107 female, 15 male, mean age 106.8 years) and 122 healthy younger controls (105 female, 17 male, mean age 33.33)
Conclusions: One haplotype, which was comprised of 2 intronic SNPs in linkage disequilibrium, was more frequent in semisupercentenarians than in younger controls

HGNC symbol: INSR
Aliases: HHF5; CD220
Common name: insulin receptor
Description: This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
Other longevity studies of this gene: 4
OMIM: 147670
Ensembl: ENSG00000171105
UniProt/Swiss-Prot: INSR_HUMAN
Entrez Gene: 3643
UniGene: 465744
HapMap: View on HapMap

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GenDR gene manipulations

Kojima et al. (2004)