MGP Database

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MGP002318

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:CHEBI:29108;
DiseaseAutoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM:614878]: 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. {ECO:0000269|PubMed:23000145}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseFamilial cold autoinflammatory syndrome 3 (FCAS3) [MIM:614468]: 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. {ECO:0000269|PubMed:22236196}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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:0000250, ECO:0000269|PubMed:11606584, ECO:0000269|PubMed:12181444, ECO:0000269|PubMed:15144186, ECO:0000269|PubMed:19690332}.
Sequence CautionSequence=AAA60112.1; Type=Frameshift; Positions=1242; Evidence={ECO:0000305}; Sequence=AAQ76815.1; Type=Frameshift; Positions=1242; Evidence={ECO:0000305}; Sequence=BAD92151.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA32194.1; Type=Frameshift; Positions=1242; Evidence={ECO:0000305};
SimilarityContains 1 C2 domain. {ECO:0000255|PROSITE- ProRule:PRU00041}.
SimilarityContains 1 PH domain. {ECO:0000255|PROSITE- ProRule:PRU00145}.
SimilarityContains 1 PI-PLC X-box domain. {ECO:0000255|PROSITE- ProRule:PRU00270}.
SimilarityContains 1 PI-PLC Y-box domain. {ECO:0000255|PROSITE- ProRule:PRU00271}.
SimilarityContains 1 SH3 domain. {ECO:0000255|PROSITE- ProRule:PRU00192}.
SimilarityContains 2 SH2 domains. {ECO:0000255|PROSITE- ProRule:PRU00191}.
SubunitInteracts (via SH2 domain) with CSF1R (tyrosine phosphorylated). {ECO:0000250}.
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