PLCG2 (phospholipase C gamma 2)
- symbol:
- PLCG2
- locus group:
- protein-coding gene
- location:
- 16q24.1
- gene_family:
- Phospholipases|SH2 domain containing|C2 domain containing phospholipases
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 5336
- ensembl gene id:
- ENSG00000197943
- ucsc gene id:
- uc002fgt.4
- refseq accession:
- NM_002661
- hgnc_id:
- HGNC:9066
- approved reserved:
- 1994-05-16
PLCG2（磷脂酶Cγ2）是磷脂酶C（PLC）家族中γ亚型的成员，属于PLC基因家族。该家族负责水解细胞膜上的磷脂酰肌醇-4,5-二磷酸（PIP2），生成第二信使肌醇-1,4,5-三磷酸（IP3）和二酰基甘油（DAG），从而激活下游信号通路，如钙离子释放和蛋白激酶C（PKC）途径。PLCG2主要在免疫细胞（如B细胞、肥大细胞和自然杀伤细胞）中表达，参与B细胞受体（BCR）和Fc受体信号传导，调控免疫应答、细胞增殖和分化。PLCG2具有独特的结构域，包括PH域、EF手结构域、C2域和分裂的催化域，这些结构使其能够被酪氨酸激酶（如Syk和Btk）磷酸化并激活。PLCG2的功能突变与多种免疫疾病相关。功能获得性突变（如R665W和S707Y）会导致过度活跃的PLCγ2，引发自身炎症性疾病如PLAID（PLCγ2相关抗体缺乏和免疫失调）和APLAID（自身炎症和PLCγ2相关抗体缺乏）。这些突变会导致持续的信号激活，引发不受控制的炎症反应。相反，功能缺失性突变可能导致免疫缺陷，如B细胞发育异常或抗体产生减少。PLCG2的过表达会增强免疫细胞的活化和炎症反应，可能加剧自身免疫疾病；而表达降低则可能导致免疫应答减弱，增加感染风险。PLCG2与自身免疫疾病（如类风湿性关节炎）、炎症性疾病和某些B细胞恶性肿瘤密切相关。在基因家族中，PLCγ亚型（包括PLCG1和PLCG2）共享相似的催化机制，但PLCG2具有更严格的免疫细胞特异性调控。PLCG1则更广泛表达，参与生长因子受体信号传导。PLCG2的独特功能使其成为免疫调节和炎症治疗的重要靶点。
The protein encoded by this gene is a transmembrane signaling enzyme that catalyzes the conversion of 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate to 1D-myo-inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) using calcium as a cofactor. IP3 and DAG are second messenger molecules important for transmitting signals from growth factor receptors and immune system receptors across the cell membrane. Mutations in this gene have been found in autoinflammation, antibody deficiency, and immune dysregulation syndrome and familial cold autoinflammatory syndrome 3. [provided by RefSeq, Mar 2014]
由该基因编码的蛋白质是一种催化1-磷脂酰1D-肌醇4,5-二磷酸的至1D-肌醇-1,4,5-三磷酸的转化跨膜信令酶（IP3）和二酰基甘油（DAG），使用钙作为辅助因子。 IP3和DAG是第二信使分子跨细胞膜转递生长因子受体和免疫系统的受体的信号非常重要。在这个基因的突变已在autoinflammation，抗体不足，免疫失调综合征和家族性寒冷自身炎症综合征3.被发现[由RefSeq的，2014年3月提供]
基因本体信息
PLCG2基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
PLCG2基因的本体（GO）信息：
| 名称 |
|---|
| 562 Inositol phosphate metabolism [PATH:hsa00562] |
| 4014 Ras signaling pathway [PATH:hsa04014] |
| 4012 ErbB signaling pathway [PATH:hsa04012] |
| 4370 VEGF signaling pathway [PATH:hsa04370] |
| 4064 NF-kappa B signaling pathway [PATH:hsa04064] |
| 4066 HIF-1 signaling pathway [PATH:hsa04066] |
| 4020 Calcium signaling pathway [PATH:hsa04020] |
| 4070 Phosphatidylinositol signaling system [PATH:hsa04070] |
| 4611 Platelet activation [PATH:hsa04611] |
| 4650 Natural killer cell mediated cytotoxicity [PATH:hsa04650] |
| 4662 B cell receptor signaling pathway [PATH:hsa04662] |
| 4664 Fc epsilon RI signaling pathway [PATH:hsa04664] |
| 4666 Fc gamma R-mediated phagocytosis [PATH:hsa04666] |
| 4670 Leukocyte transendothelial migration [PATH:hsa04670] |
| 4919 Thyroid hormone signaling pathway [PATH:hsa04919] |
| 4722 Neurotrophin signaling pathway [PATH:hsa04722] |
| 4750 Inflammatory mediator regulation of TRP channels [PATH:hsa04750] |
| 4380 Osteoclast differentiation [PATH:hsa04380] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5206 MicroRNAs in cancer [PATH:hsa05206] |
| 5205 Proteoglycans in cancer [PATH:hsa05205] |
| 5214 Glioma [PATH:hsa05214] |
| 5223 Non-small cell lung cancer [PATH:hsa05223] |
| 5110 Vibrio cholerae infection [PATH:hsa05110] |
| 5120 Epithelial cell signaling in Helicobacter pylori infection [PATH:hsa05120] |
| 5169 Epstein-Barr virus infection [PATH:hsa05169] |
| 名称 |
|---|
| Adaptive Immune System |
| Antigen activates B Cell Receptor (BCR) leading to generation of second messengers |
| C-type lectin receptors (CLRs) |
| CLEC7A (Dectin-1) signaling |
| DAP12 interactions |
| DAP12 signaling |
| Dectin-2 family |
| Fc epsilon receptor (FCERI) signaling |
| FCERI mediated Ca+2 mobilization |
| FCERI mediated MAPK activation |
| Fcgamma receptor (FCGR) dependent phagocytosis |
| GPVI-mediated activation cascade |
| Hemostasis |
| Immune System |
| Innate Immune System |
| Inositol phosphate metabolism |
| Platelet activation, signaling and aggregation |
| PLC-mediated hydrolysis of PIP2 |
| Role of phospholipids in phagocytosis |
| Signaling by the B Cell Receptor (BCR) |
| Synthesis of IP3 and IP4 in the cytosol |
| Toll Like Receptor 4 (TLR4) Cascade |
| Toll-Like Receptors Cascades |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | 0.36 | 1 | 1 | CLINVAR_ORPHANET_UNIPROT |
| FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 | 0.24 | 0 | 0 | CLINVAR_ORPHANET |
| Lymphoma | 0.00272435 | 1 | 0 | LHGDN |
| Stomach Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
| Malignant neoplasm of breast | 0.002638474 | 2 | 0 | BeFree_GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| HIV Infections | 0.002367032 | 1 | 0 | GAD |
| Bipolar Disorder | 0.002367032 | 1 | 0 | GAD |
| Chronic Lymphocytic Leukemia | 0.001085767 | 4 | 0 | BeFree |
| Immunologic Deficiency Syndromes | 0.000271442 | 1 | 0 | BeFree |
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