LongevityMap Gene

Gene details

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]
Cytogenetic Location: 19p13.2
UCSC Genome Browser: View 19p13.2 on the UCSC genome browser
OMIM: 147670
Ensembl: ENSG00000171105
UniProt/Swiss-Prot: INSR_HUMAN
Entrez Gene: 3643
UniGene: 465744
1000 Genomes: 1000 Genomes

Homologs in model organisms

Caenorhabditis elegans: daf-2
Danio rerio: insra
Danio rerio: insrb
Drosophila melanogaster: InR
Mus musculus: Insr
Rattus norvegicus: Insr

In other databases

GenAge model organism genes

A homolog of this gene for Caenorhabditis elegans is present as daf-2
A homolog of this gene for Drosophila melanogaster is present as InR
A homolog of this gene for Mus musculus is present as Insr

GenAge human genes

This gene is present as INSR

GenDR gene manipulations

A homolog of this gene for Drosophila melanogaster is present as InR
A homolog of this gene for Caenorhabditis elegans is present as daf-2

Studies (2)

Significant/Non-significant: 1/1

Study 1

Longevity Association

Population

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

Indentifier

Reference

Study 2

Longevity Association: Non-significant
Population: Italian (Southern)
Study Design: A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
Conclusions: After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
Indentifier