PLCG2

PLCG2 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.

Phospholipase C gamma 2

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.

Activation of store-operated calcium channel activityIEA:Ensembl
Antifungal innate immune responseISS:ARUK-UCL
B cell differentiationISS:UniProtKB
B cell receptor signaling pathwayManual Assertion Based On ExperimentIDA:ARUK-UCL
Calcium-mediated signalingManual Assertion Based On ExperimentIMP:ARUK-UCL
Cell activationISS:ARUK-UCL
Cellular response to calcium ionManual Assertion Based On ExperimentIMP:ARUK-UCL
Cellular response to lectinISS:ARUK-UCL
Cellular response to lipidManual Assertion Based On ExperimentIMP:ARUK-UCL
Fc-epsilon receptor signaling pathwayTAS:Reactome
Follicular B cell differentiationIEA:Ensembl
Inositol trisphosphate biosynthetic processIEA:Ensembl
Intracellular signal transductionManual Assertion Based On ExperimentIDA:ARUK-UCL
Lipopolysaccharide-mediated signaling pathwayManual Assertion Based On ExperimentIMP:ARUK-UCL
Macrophage activation involved in immune responseISS:ARUK-UCL
Negative regulation of programmed cell deathIEA:Ensembl
Phosphatidylinositol biosynthetic processManual Assertion Based On ExperimentIDA:UniProtKB
Phospholipid catabolic processIEA:InterPro
Platelet activationTAS:Reactome
Positive regulation of calcium-mediated signalingISS:ARUK-UCL
Positive regulation of cell cycle G1/S phase transitionISS:ARUK-UCL
Positive regulation of dendritic cell cytokine productionISS:ARUK-UCL
Positive regulation of DNA-binding transcription factor activityISS:ARUK-UCL
Positive regulation of epithelial cell migrationManual Assertion Based On ExperimentIBA:GO_Central
Positive regulation of gene expressionManual Assertion Based On ExperimentIMP:ARUK-UCL
Positive regulation of I-kappaB phosphorylationISS:ARUK-UCL
Positive regulation of interleukin-10 productionISS:ARUK-UCL
Positive regulation of interleukin-12 productionISS:ARUK-UCL
Positive regulation of interleukin-2 productionISS:ARUK-UCL
Positive regulation of interleukin-23 productionISS:ARUK-UCL
Positive regulation of interleukin-6 productionISS:ARUK-UCL
Positive regulation of macrophage cytokine productionISS:ARUK-UCL
Positive regulation of MAPK cascadeISS:ARUK-UCL
Positive regulation of neuroinflammatory responseManual Assertion Based On ExperimentIMP:ARUK-UCL
Positive regulation of NF-kappaB transcription factor activityISS:ARUK-UCL
Positive regulation of NLRP3 inflammasome complex assemblyManual Assertion Based On ExperimentIMP:ARUK-UCL
Positive regulation of peptidyl-tyrosine phosphorylationISS:ARUK-UCL
Positive regulation of phagocytosis, engulfmentManual Assertion Based On ExperimentIMP:ARUK-UCL
Positive regulation of reactive oxygen species biosynthetic processISS:ARUK-UCL
Positive regulation of receptor internalizationIEA:Ensembl
Positive regulation of tumor necrosis factor productionISS:ARUK-UCL
Positive regulation of type I interferon productionIEA:Ensembl
Programmed cell deathIEA:Ensembl
Regulation of calcineurin-NFAT signaling cascadeISS:ARUK-UCL
Regulation of I-kappaB kinase/NF-kappaB signalingISS:ARUK-UCL
Regulation of lipid metabolic processManual Assertion Based On ExperimentIMP:ARUK-UCL
Release of sequestered calcium ion into cytosolManual Assertion Based On ExperimentIDA:UniProtKB
Response to axon injuryManual Assertion Based On ExperimentIMP:ARUK-UCL
Response to yeastISS:ARUK-UCL
Stimulatory C-type lectin receptor signaling pathwayISS:ARUK-UCL
T cell receptor signaling pathwayISS:UniProtKB
Toll-like receptor signaling pathwayISS:ARUK-UCL
Wnt signaling pathwayManual Assertion Based On ExperimentTAS:UniProtKB

cytoplasm
cytosol
extracellular exosome
intracellular vesicle
perinuclear region of cytoplasm
plasma membrane
ruffle membrane

Familial cold autoinflammatory syndrome 3 (FCAS3):
An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B-cells, defective B-cells, increased susceptibility to infection, and increased risk of autoimmune disorders.
Autoinflammation, antibody deficiency, and immune dysregulation (APLAID):
An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies.

Phosphorylated on tyrosine residues by CSF1R (By similarity).
Phosphorylated on tyrosine residues by BTK and SYK; upon ligand-induced activation of a variety of growth factor receptors and immune system receptors. Phosphorylation leads to increased phospholipase activity.