IRS2

Chr 13AD

insulin receptor substrate 2

Also known as: IRS-2

NCBI Gene: 8660 ENSG00000185950 UniProt: Q9Y4H2 OMIM: 600797

The insulin receptor substrate 2 protein functions as a cytoplasmic signaling adapter that mediates insulin and insulin-like growth factor 1 signaling by connecting receptor tyrosine kinases to downstream effectors in pathways controlling glucose homeostasis, lipid metabolism, and cell growth. Mutations cause autosomal dominant noninsulin-dependent diabetes mellitus. This gene is highly constrained against loss-of-function variants (pLI 0.99), indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Diabetes mellitus, noninsulin-dependent}MIM #125853

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

101

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.29

LOEUF· LoF intol.

LOF

Mechanism· predicted