PLCB3 (phospholipase C beta 3)
- symbol:
- PLCB3
- locus group:
- protein-coding gene
- location:
- 11q13.1
- gene_family:
- Phospholipases|C2 domain containing phospholipases
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 5331
- ensembl gene id:
- ENSG00000149782
- ucsc gene id:
- uc009ypi.4
- refseq accession:
- NM_000932
- hgnc_id:
- HGNC:9056
- approved reserved:
- 1994-11-17
PLCB3（磷脂酶Cβ3）属于磷脂酶C（PLC）基因家族，该家族成员通过水解磷脂酰肌醇-4,5-二磷酸（PIP2）生成第二信使肌醇三磷酸（IP3）和二酰基甘油（DAG），参与细胞内信号转导。PLCB3主要在免疫系统、神经系统和心血管系统中表达，其产物通过G蛋白偶联受体（GPCR）激活，调控钙离子释放和蛋白激酶C（PKC）通路，影响细胞增殖、分化和炎症反应。PLCB3的功能异常与多种疾病相关，例如其突变可能导致免疫缺陷或自身免疫性疾病，因为它在B细胞和T细胞信号传导中起关键作用。此外，PLCB3的过表达可能增强GPCR下游信号，导致过度炎症或肿瘤发生，而表达降低则可能削弱免疫应答或神经传导效率。PLCB3与精神分裂症、阿尔茨海默病等神经精神疾病的关联也被研究，部分突变可能破坏神经元信号传导。PLC基因家族的共性在于依赖钙离子和磷脂代谢调控细胞功能，成员间具有保守的催化结构域但组织分布和调控特性不同。PLCB3作为该家族一员，其功能受特定GPCR（如组胺或5-羟色胺受体）激活，且与PLCB1、PLCB2等亚型存在功能冗余，但在特定组织（如脾脏和大脑）中发挥不可替代的作用。研究PLCB3有助于理解免疫失调和神经退行性疾病的机制，并为靶向药物开发提供潜在方向。
This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
该基因编码的磷酸肌醇磷脂酶C测试酶家族催化生产在G蛋白偶联受体介导的信号转导的第二信使二酰基甘油和1,4,5-三磷酸肌醇从磷脂的成员。选择性剪接结果在多个抄本变形。[由RefSeq的，2010年5月提供]
基因本体信息
PLCB3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
PLCB3基因的本体（GO）信息：
| 名称 |
|---|
| 562 Inositol phosphate metabolism [PATH:hsa00562] |
| 4015 Rap1 signaling pathway [PATH:hsa04015] |
| 4310 Wnt signaling pathway [PATH:hsa04310] |
| 4020 Calcium signaling pathway [PATH:hsa04020] |
| 4070 Phosphatidylinositol signaling system [PATH:hsa04070] |
| 4071 Sphingolipid signaling pathway [PATH:hsa04071] |
| 4022 cGMP - PKG signaling pathway [PATH:hsa04022] |
| 4540 Gap junction [PATH:hsa04540] |
| 4611 Platelet activation [PATH:hsa04611] |
| 4062 Chemokine signaling pathway [PATH:hsa04062] |
| 4911 Insulin secretion [PATH:hsa04911] |
| 4922 Glucagon signaling pathway [PATH:hsa04922] |
| 4912 GnRH signaling pathway [PATH:hsa04912] |
| 4915 Estrogen signaling pathway [PATH:hsa04915] |
| 4921 Oxytocin signaling pathway [PATH:hsa04921] |
| 4918 Thyroid hormone synthesis [PATH:hsa04918] |
| 4919 Thyroid hormone signaling pathway [PATH:hsa04919] |
| 4916 Melanogenesis [PATH:hsa04916] |
| 4261 Adrenergic signaling in cardiomyocytes [PATH:hsa04261] |
| 4270 Vascular smooth muscle contraction [PATH:hsa04270] |
| 4970 Salivary secretion [PATH:hsa04970] |
| 4971 Gastric acid secretion [PATH:hsa04971] |
| 4972 Pancreatic secretion [PATH:hsa04972] |
| 4961 Endocrine and other factor-regulated calcium reabsorption [PATH:hsa04961] |
| 4724 Glutamatergic synapse [PATH:hsa04724] |
| 4725 Cholinergic synapse [PATH:hsa04725] |
| 4728 Dopaminergic synapse [PATH:hsa04728] |
| 4726 Serotonergic synapse [PATH:hsa04726] |
| 4720 Long-term potentiation [PATH:hsa04720] |
| 4730 Long-term depression [PATH:hsa04730] |
| 4723 Retrograde endocannabinoid signaling [PATH:hsa04723] |
| 4750 Inflammatory mediator regulation of TRP channels [PATH:hsa04750] |
| 4713 Circadian entrainment [PATH:hsa04713] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5010 Alzheimer's disease [PATH:hsa05010] |
| 5016 Huntington's disease [PATH:hsa05016] |
| 5146 Amoebiasis [PATH:hsa05146] |
| 5142 Chagas disease (American trypanosomiasis) [PATH:hsa05142] |
| 5143 African trypanosomiasis [PATH:hsa05143] |
| 名称 |
|---|
| Acetylcholine regulates insulin secretion |
| Activation of Kainate Receptors upon glutamate binding |
| beta-catenin independent WNT signaling |
| Ca2+ pathway |
| Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion |
| Free fatty acids regulate insulin secretion |
| G alpha (q) signalling events |
| G beta:gamma signalling through PLC beta |
| G-protein beta:gamma signalling |
| G-protein mediated events |
| Gastrin-CREB signalling pathway via PKC and MAPK |
| GPCR downstream signaling |
| Inositol phosphate metabolism |
| Integration of energy metabolism |
| Neuronal System |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell |
| Opioid Signalling |
| PLC beta mediated events |
| Presynaptic function of Kainate receptors |
| Regulation of insulin secretion |
| Signaling by GPCR |
| Signaling by Wnt |
| Synthesis of IP3 and IP4 in the cytosol |
| Transmission across Chemical Synapses |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Diabetes Mellitus, Experimental | 0.08 | 1 | 0 | RGD |
| Myocardial Infarction | 0.08 | 1 | 0 | RGD |
| Inflammation | 0.00272435 | 1 | 0 | LHGDN |
| HIV Infections | 0.002367032 | 1 | 0 | GAD |
| Attention deficit hyperactivity disorder | 0.002367032 | 1 | 1 | GAD |
| Carcinogenesis | 0.001085767 | 4 | 0 | BeFree |
| Multiple Endocrine Neoplasia Type 1 | 0.000542884 | 2 | 0 | BeFree |
| Neuroendocrine Tumors | 0.000542884 | 2 | 0 | BeFree |
| Islet Cell Tumor | 0.000271442 | 1 | 0 | BeFree |
| Eczema | 0.000271442 | 1 | 0 | BeFree |
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