LMPD Database

LMP000965

UniProt Annotations

Entry Information
Gene Namephospholipase C, gamma 2 (phosphatidylinositol-specific)
Protein EntryPLCG2_HUMAN
UniProt IDP16885
SpeciesHuman
Comments
Comment typeDescription
Catalytic Activity1-phosphatidyl-1D-myo-inositol 4,5- bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.
CofactorName=Ca(2+); Xref=ChEBI
DiseaseAutoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM
DiseaseFamilial cold autoinflammatory syndrome 3 (FCAS3) [MIM
FunctionThe 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.
InteractionP10275:AR; NbExp=6; IntAct=EBI-617403, EBI-608057; P00533:EGFR; NbExp=5; IntAct=EBI-617403, EBI-297353; P19235:EPOR; NbExp=3; IntAct=EBI-617403, EBI-617321; P04626:ERBB2; NbExp=3; IntAct=EBI-617403, EBI-641062; Q13480:GAB1; NbExp=15; IntAct=EBI-617403, EBI-517684; P10721:KIT; NbExp=8; IntAct=EBI-617403, EBI-1379503; P27986:PIK3R1; NbExp=2; IntAct=EBI-617403, EBI-79464;
PtmPhosphorylated 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. {ECO
Sequence CautionSequence=AAA60112.1; Type=Frameshift; Positions=1242; Evidence= ; Sequence=AAQ76815.1; Type=Frameshift; Positions=1242; Evidence= ; Sequence=BAD92151.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence= ; Sequence=CAA32194.1; Type=Frameshift; Positions=1242; Evidence= ;
SimilarityContains 1 C2 domain. {ECO
SimilarityContains 1 PH domain. {ECO
SimilarityContains 1 PI-PLC X-box domain. {ECO
SimilarityContains 1 PI-PLC Y-box domain. {ECO
SimilarityContains 1 SH3 domain. {ECO
SimilarityContains 2 SH2 domains. {ECO
SubunitInteracts (via SH2 domain) with CSF1R (tyrosine phosphorylated).