Search for a gene
PLCG2 - phospholipase C gamma 2
- Synonym(s) :
- Previous symbols and names : phospholipase C, gamma 2 (phosphatidylinositol-specific)
- Type : gene with protein product
- Chromosomal location : 16q24.1
- OMIM: 600220
- HGNC: 9066
- UniProtKB: P16885
- Genatlas: PLCG2
- GenCC: PLCG2
- Ensembl: ENSG00000197943
- IUPHAR-DB: 1408
- Reactome: P16885
- LOVD: PLCG2
Diseases list
- Disease-causing germline mutation(s) (gain of function) in Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
ORPHA:324530 
- Disease-causing germline mutation(s) (gain of function) in PLCG2-associated antibody deficiency and immune dysregulation
ORPHA:300359
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.