PLCG2编码蛋白是磷脂酶Cγ2，是一种钙依赖酶，参与跨膜信号传导。它可以将磷脂（磷脂酰肌醇4,5-二磷酸（PIP2））裂解成甘油二酯（DAG）和肌醇1,4,5-三磷酸（IP3）。它通过C-末端SH2结构域被自身抑制，并被通过磷酸化激活。它主要在B细胞和自然杀伤细胞中表达，其作用是转导来自免疫球蛋白受体家族的信号。它也参与破骨细胞发育的调节。PLCG2基因突变是CLL患者服用伊布替尼治疗的耐药机制。这些激活突变产生来源于B细胞受体的Btk非依赖性的信号转导。PLCG2的多态性与癌症发展风险相关。

PLCG2 encodes an enzyme involved in transmembrane signaling. Mutations of PLCG2 are associated with autoimmunity and immune dysregulation and resistance to Ibrutinib therapy in patients with CLL. PLCG2 encodes for the gene phospholipase C gamma 2, a calcium dependent enzyme that cleaves phospholipids (phosphatidylinositol 4, 5-bisphosphate (PIP2)) into diacylglycerol (DAG) and inositol 1, 4, 5-triphosphate (IP3). The enzyme is autoinhibited by a C-terminal SH2 domain and activated by phosphorylation. It is expressed mainly in B-cells and Natural Killer cells where it acts to transduce signals from the immunglobulin family of receptors. It is also involved in regulating osteoclast development. Mutations and deletions have been associated with autoimmunity and immune dysregulation. Mutations in PLCG2 are found as resistance mechanisms to Ibruitinib therapy in CLL patients. These activating mutations result in Btk independent signaling from the B-cell receptor. Polymorphisms in PLCG2 have also been associated with cancer development risk.

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