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

Danio rerio
insrb
Mus musculus
Insr
Rattus norvegicus
Insr

In other databases

GenAge model organism genes
  • A homolog of this gene for Mus musculus is present as Insr
GenAge human genes
  • This gene is present as INSR

Studies (2)

Significant/Non-significant: 1/1

Study 1

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
Indentifier
INSR
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
    rs11667110
    Reference