| Primary Identifier | MGI:1206581 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 18706 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables 1-phosphatidylinositol-3-kinase activity; insulin receptor substrate binding activity; and protein kinase activator activity. Involved in several processes, including cell surface receptor protein tyrosine kinase signaling pathway; cellular response to hydrostatic pressure; and phosphatidylinositol 3-kinase/protein kinase B signal transduction. Acts upstream of with a negative effect on autosome genomic imprinting. Acts upstream of or within several processes, including cellular response to glucose stimulus; negative regulation of apoptotic process; and regulation of macromolecule metabolic process. Located in intercalated disc and lamellipodium. Part of phosphatidylinositol 3-kinase complex. Is expressed in several structures, including early embryo; eye; and nervous system. Used to study CLOVES syndrome and breast cancer. Human ortholog(s) of this gene implicated in several diseases, including CLOVES syndrome; Cowden syndrome 5; breast cancer (multiple); cutaneous Paget's disease; and gastrointestinal system cancer (multiple). Orthologous to human PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha). PHENOTYPE: Homozygous null or knock-in mutations of this gene lead to embryonic death associated with growth retardation, vascular defects and hemorrhage. Surviving mice homozygous for a knock-in allele show impaired lymphangiogenesis, ascites, reduced weight, and resistance to Ras-driven skin tumorigenesis. [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
