Aliases for PLCG2 Gene
External Ids for PLCG2 Gene
Previous GeneCards Identifiers for PLCG2 Gene
The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]
GeneCards Summary for PLCG2 Gene
PLCG2 (Phospholipase C, Gamma 2 (Phosphatidylinositol-Specific)) is a Protein Coding gene. Diseases associated with PLCG2 include familial cold autoinflammatory syndrome 3 and autoinflammation, antibody deficiency, and immune dysregulation syndrome. Among its related pathways are PI-3K cascade and Signaling by FGFR. GO annotations related to this gene include phospholipid binding and phosphatidylinositol phospholipase C activity. An important paralog of this gene is PLCE1.
UniProtKB/Swiss-Prot for PLCG2 Gene
The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. It is a crucial enzyme in transmembrane signaling
Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. PLC is subdivided into beta, gamma, delta, epsilon, zeta and eta subtypes, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) to inositol 1,4,5-trisphosphate (IP3) and 1,2-diacylglycerol (DAG). IP3 and DAG both have important second messenger functions. PLC-beta is primarily activated by Gq/11 proteins and PLC-gamma is activated by phosphorylation in response to a variety of growth factor and immune system signals. Phospholipases are ubiquitously expressed and have diverse biological functions including roles in inflammation, cell growth, signaling and death and maintenance of membrane phospholipids.