Primary Identifier | MGI:109334 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 384783 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatidylinositol 3-kinase activator activity; phosphatidylinositol 3-kinase binding activity; and transmembrane receptor protein tyrosine kinase adaptor activity. Involved in several processes, including insulin receptor signaling pathway; positive regulation of B cell proliferation; and positive regulation of cell communication. Acts upstream of or within several processes, including cellular response to insulin stimulus; positive regulation of cell population proliferation; and positive regulation of epithelial cell migration. Located in cytosol and plasma membrane. Is expressed in several structures, including brain ventricular layer; hindlimb digit skin; jaw; metanephros; and thymus primordium. Used to study type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in type 2 diabetes mellitus. Orthologous to human IRS2 (insulin receptor substrate 2). PHENOTYPE: Homozygous disruption of this gene results in type 2 diabetes due to insulin resistance and pancreatic beta cell dysfunction, causes defects in leptin action, energy balance, lipid homeostasis and vascular wound healing, and leads to female infertility due to hypothalamic and ovarian dysfunction. [provided by MGI curators] |