IRS2 Chromosome 13

Insulin receptor substrate 2
2 variants 2 Health Risk

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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
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