| Primary Identifier | MGI:96575 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 16337 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables insulin receptor activity. Involved in several processes, including adrenal gland development; insulin receptor signaling pathway; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Acts upstream of with a positive effect on receptor internalization. Acts upstream of or within several processes, including exocrine pancreas development; peptidyl-tyrosine autophosphorylation; and positive regulation of mitotic nuclear division. Located in caveola. Is active in plasma membrane. Is expressed in several structures, including brain; connective tissue; enteric nervous system; female reproductive system; and heart. Used to study diabetic retinopathy and polycystic ovary syndrome. Human ortholog(s) of this gene implicated in Donohue syndrome; glucose metabolism disease (multiple); hepatocellular carcinoma; and reproductive organ cancer (multiple). Orthologous to human INSR (insulin receptor). PHENOTYPE: Null mutants grow slowly and die by 7 days of age with ketoacidosis, high serum insulin and triglycerides, low glycogen stores and fatty livers. Tissue specific knockouts show milder lipid metabolism anomalies. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
