| Primary Identifier | MGI:1098211 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 18707 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable 1-phosphatidylinositol-3-kinase activity and 1-phosphatidylinositol-4-phosphate 3-kinase activity. Involved in phosphatidylinositol 3-kinase/protein kinase B signal transduction and positive regulation of angiogenesis. Acts upstream of or within several processes, including B cell activation; B cell homeostasis; and defense response to fungus. Predicted to be located in cytosol. Predicted to be part of phosphatidylinositol 3-kinase complex, class IA. Predicted to be active in cytoplasm and plasma membrane. Is expressed in early embryo; hemolymphoid system; nervous system; sensory organ; and testis. Human ortholog(s) of this gene implicated in colorectal cancer; endometrial cancer; immunodeficiency 14; and schizophrenia. Orthologous to human PIK3CD (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta). PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired B and T cell antigen receptor signaling, reduced or ablated immune responses and decreased immunoglobulin levels. Mutants also develop inflammatory bowel disease. [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
