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
Identifier
INSR
Cytogenetic Location
19p13.2
UCSC Genome Browser
View 19p13.2 on the UCSC genome browser

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]
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

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

References

Kojima et al. (2004)

Other variants which are also part of this study