| Primary Identifier | MGI:97583 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 18708 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Enables several functions, including insulin receptor substrate binding activity; kinase regulator activity; and phosphatidylinositol 3-kinase regulatory subunit binding activity. Involved in several processes, including cell surface receptor protein tyrosine kinase signaling pathway; negative regulation of stress fiber assembly; and positive regulation of cellular component organization. Acts upstream of or within several processes, including apoptotic signaling pathway; negative regulation of osteoclast differentiation; and positive regulation of tumor necrosis factor production. Located in several cellular components, including cell-cell junction; cis-Golgi network; and perinuclear endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; brain; eye; genitourinary system; and integumental system. Used to study SHORT syndrome and X-linked agammaglobulinemia. Human ortholog(s) of this gene implicated in several diseases, including SHORT syndrome; agammaglobulinemia 7; astroblastoma; endometrial cancer (multiple); and immunodeficiency 36. Orthologous to human PIK3R1 (phosphoinositide-3-kinase regulatory subunit 1). PHENOTYPE: Homozygotes for a targeted null mutation exhibit perinatal lethality associated with hepatic necrosis, chylous ascites, enlarged muscle fibers, calcification of cardiac tissue, and hypoglycemia. Mutants lacking only the major isoform are immunodeficient. [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
