IRS2 Chromosome 13
Insulin receptor substrate 2
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What This Gene Does
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]
Gene Info
Gene Group
Pleckstrin homology domain containing
Locus Type
gene with protein product
Location
13q34
Ensembl
ENSG00000185950
Associated Conditions (2)
IRS2-related disorder
Type 2 diabetes mellitus
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1805097 | Health Risk | Benign; risk factor | IRS2-related disorder, Type 2 diabetes mellitus, IRS2-related disorder |
| RS137852740 | Health Risk | risk factor | Type 2 diabetes mellitus, Type 2 diabetes mellitus |