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PLCG2

phospholipase C gamma 2
2 disorders 1 causative 1 susceptibility 16q24.1 gene with protein product
HGNC:9066MonarchNCBI Gene 5336ENSG00000197943UniProt P16885OMIM 600220
Normal function · from ai-gene-review (P16885, commit 79fe13b38970) · AI-generated, not KB evidence

PLCG2 encodes phospholipase C-gamma 2, a multidomain phosphoinositide-specific phospholipase C enriched in hematopoietic cells and microglia. After recruitment to activated receptor signaling complexes through SH2/phosphotyrosine and adaptor interactions, PLCG2 hydrolyzes phosphatidylinositol 4,5-bisphosphate at plasma-membrane and membrane-raft signaling sites to generate inositol 1,4,5-trisphosphate and diacylglycerol, coupling B-cell, Fc receptor, C-type lectin, platelet, TREM2, Toll-like receptor, and related immune pathways to calcium mobilization, lipid signaling, transcriptional responses, phagocytosis, inflammatory signaling, and other hematopoietic or myeloid cell outcomes.

Receptor-activated phosphatidylinositol 4,5-bisphosphate phospholipase C activity that generates IP3 and DAG, coupling immune and growth-factor receptor inputs to calcium and lipid second-messenger signaling.
molecular function: phosphatidylinositol-4,5-bisphosphate phospholipase C activity · directly involved in: phosphatidylinositol-mediated signaling; release of sequestered calcium ion into cytosol; calcium-mediated signaling · locations: cytosol; plasma membrane; membrane raft; ruffle membrane
Phosphorylation-dependent recruitment and activation in immune-receptor signaling complexes through SH2/phosphotyrosine, kinase, scaffold, and small GTPase-linked interactions.
molecular function: phosphotyrosine residue binding · directly involved in: B cell receptor signaling pathway; antigen receptor-mediated signaling pathway; stimulatory C-type lectin receptor signaling pathway · locations: cytosol; plasma membrane; membrane raft
In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Familial Cold Autoinflammatory Syndrome causative germline
mechanism: PLCG2 cold-dependent gain of function
subtype: FCAS3
scoped to subtype: FCAS3
Pediatric Acute-onset Neuropsychiatric Syndrome susceptibility germline

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.