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 Immune System and GPCR Pathway. GO annotations related to this gene include signal transducer activity 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. There are four major classes; phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.