| Primary Identifier | MGI:97616 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 234779 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatidylinositol phospholipase C activity and phosphorylation-dependent protein binding activity. Involved in several processes, including immune response-activating signaling pathway; positive regulation of cytokine production; and positive regulation of protein phosphorylation. Acts upstream of or within several processes, including activation of store-operated calcium channel activity; follicular B cell differentiation; and regulation of calcium-mediated signaling. Located in cytosol and membrane raft. Is expressed in several structures, including alimentary system; bone; cardiovascular system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. Orthologous to human PLCG2 (phospholipase C gamma 2). PHENOTYPE: Homozygotes for some null alleles show decreased B cell and impaired NK cell function. Other homozygous null alleles show aberrant separation of blood and lymphatic vessels. A point mutation associated with Alzheimer's disease protective effect leads to enhanced intracellular Ca2+ release in response to various stimuli in microglia and reduced phagocytosis and enhanced endocytosis in microglia and macrophages. [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
