GNB3 (G protein subunit beta 3)
- symbol:
- GNB3
- locus group:
- protein-coding gene
- location:
- 12p13.31
- gene_family:
- WD repeat domain containing
- alias symbol:
- None
- alias name:
- transducin beta chain 3|Guanine nu…
- entrez id:
- 2784
- ensembl gene id:
- ENSG00000111664
- ucsc gene id:
- uc001qrd.3
- refseq accession:
- NM_002075
- hgnc_id:
- HGNC:4400
- approved reserved:
- 1989-05-30
GNB3基因编码鸟嘌呤核苷酸结合蛋白（G蛋白）的β3亚基，属于G蛋白β亚基家族（GNB家族）。G蛋白是细胞信号转导的关键分子，由α、β和γ三个亚基组成，其中β和γ亚基通常形成稳定的二聚体。GNB家族成员在结构上高度保守，具有7个WD重复序列，负责介导G蛋白与受体、效应分子及其他蛋白的相互作用。GNB3主要在心血管系统、肾脏、脂肪组织和免疫细胞中表达，参与调节多种生理过程，如血压、离子通道活性、细胞增殖和代谢。GNB3最常见的突变是C825T（rs5443），该突变导致剪接变体GNB3-s的产生，其缺失了41个氨基酸但保留功能。研究表明，825T等位基因与增强的G蛋白激活相关，可能通过增加细胞内信号转导效率影响多种生理功能。这种突变与多种疾病相关，包括原发性高血压、肥胖、2型糖尿病、抑郁症和某些癌症风险增加。GNB3过表达可能导致G蛋白信号过度激活，与心血管疾病和代谢综合征的发生有关；而表达降低则可能损害信号转导，影响神经传递和激素反应。在药物反应方面，GNB3多态性影响抗高血压药物和抗抑郁药的疗效。GNB家族成员（如GNB1、GNB2、GNB4）虽然结构相似，但组织分布和功能存在差异，共同参与调控GPCR介导的多种信号通路。GNB3因其在代谢和心血管疾病中的重要作用，成为潜在的药物靶点和个体化医疗的研究重点。
Heterotrimeric guanine nucleotide-binding proteins (G proteins), which integrate signals between receptors and effector proteins, are composed of an alpha, a beta, and a gamma subunit. These subunits are encoded by families of related genes. This gene encodes a beta subunit which belongs to the WD repeat G protein beta family. Beta subunits are important regulators of alpha subunits, as well as of certain signal transduction receptors and effectors. A single-nucleotide polymorphism (C825T) in this gene is associated with essential hypertension and obesity. This polymorphism is also associated with the occurrence of the splice variant GNB3-s, which appears to have increased activity. GNB3-s is an example of alternative splicing caused by a nucleotide change outside of the splice donor and acceptor sites. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]
异三聚体鸟嘌呤核苷酸结合蛋白（G蛋白），其中整合受体和效应蛋白之间的信号，是由α，一个β和一个伽玛亚基。这些亚单位是由相关基因的家族编码。该基因编码属于WD重复的G蛋白β家族一个β亚基。 β亚基是α-亚基的重要调节剂，以及某些信号转导的受体和效应物。单核苷酸多态性（C825T），该基因与原发性高血压和肥胖有关。该多态性也与剪接变体GNB3-s，这似乎具有增加的活性的发生有关。 GNB3-s是所引起的剪接供体和受体位点以外的核苷酸改变剪接的一个例子。选择性剪接结果在多个抄本变形。这种基因的附加可变剪接转录物变体已有描述，但是它们的全长性质是未知的。 [由RefSeq的，2014年7月提供]
基因本体信息
GNB3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
GNB3基因的本体（GO）信息：
| 名称 |
|---|
| 4014 Ras signaling pathway [PATH:hsa04014] |
| 4151 PI3K-Akt signaling pathway [PATH:hsa04151] |
| 4062 Chemokine signaling pathway [PATH:hsa04062] |
| 4724 Glutamatergic synapse [PATH:hsa04724] |
| 4727 GABAergic synapse [PATH:hsa04727] |
| 4725 Cholinergic synapse [PATH:hsa04725] |
| 4728 Dopaminergic synapse [PATH:hsa04728] |
| 4726 Serotonergic synapse [PATH:hsa04726] |
| 4723 Retrograde endocannabinoid signaling [PATH:hsa04723] |
| 4742 Taste transduction [PATH:hsa04742] |
| 4713 Circadian entrainment [PATH:hsa04713] |
| 5200 Pathways in cancer [PATH:hsa05200] |
| 5032 Morphine addiction [PATH:hsa05032] |
| 5034 Alcoholism [PATH:hsa05034] |
| 名称 |
|---|
| Activation of G protein gated Potassium channels |
| Activation of GABAB receptors |
| Activation of Kainate Receptors upon glutamate binding |
| ADP signalling through P2Y purinoceptor 1 |
| ADP signalling through P2Y purinoceptor 12 |
| Adrenaline,noradrenaline inhibits insulin secretion |
| Aquaporin-mediated transport |
| beta-catenin independent WNT signaling |
| Ca2+ pathway |
| Class B/2 (Secretin family receptors) |
| G alpha (12/13) signalling events |
| G alpha (i) signalling events |
| G alpha (q) signalling events |
| G alpha (s) signalling events |
| G alpha (z) signalling events |
| G beta:gamma signalling through PI3Kgamma |
| G beta:gamma signalling through PLC beta |
| G protein gated Potassium channels |
| G-protein activation |
| G-protein beta:gamma signalling |
| GABA B receptor activation |
| GABA receptor activation |
| Gastrin-CREB signalling pathway via PKC and MAPK |
| Glucagon signaling in metabolic regulation |
| Glucagon-like Peptide-1 (GLP1) regulates insulin secretion |
| Glucagon-type ligand receptors |
| GPCR downstream signaling |
| GPCR ligand binding |
| Hemostasis |
| Incretin synthesis, secretion, and inactivation |
| Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits |
| Integration of energy metabolism |
| Inwardly rectifying K+ channels |
| Metabolism |
| Metabolism of proteins |
| Neuronal System |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell |
| Opioid Signalling |
| Peptide hormone metabolism |
| Platelet activation, signaling and aggregation |
| Platelet homeostasis |
| Potassium Channels |
| Presynaptic function of Kainate receptors |
| Prostacyclin signalling through prostacyclin receptor |
| Regulation of insulin secretion |
| Signal amplification |
| Signal Transduction |
| Signaling by GPCR |
| Signaling by Wnt |
| Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) |
| Thrombin signalling through proteinase activated receptors (PARs) |
| Thromboxane signalling through TP receptor |
| Transmembrane transport of small molecules |
| Transmission across Chemical Synapses |
| Vasopressin regulates renal water homeostasis via Aquaporins |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Hypertensive disease | 0.239177013 | 98 | 8 | BeFree_CTD_human_GAD_LHGDN |
| Obesity | 0.173388306 | 45 | 1 | BeFree_CTD_human_GAD |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.148294763 | 14 | 1 | BeFree_CTD_human_GAD_LHGDN |
| Coronary Artery Disease | 0.133635564 | 7 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Weight Gain | 0.129468128 | 4 | 0 | CTD_human_GAD |
| Essential Hypertension | 0.127600372 | 28 | 1 | BeFree_CTD_human |
| Seizures | 0.12 | 1 | 0 | CTD_human |
| Schizophrenia | 0.019922334 | 7 | 1 | BeFree_GAD_LHGDN |
| Myocardial Infarction | 0.019369519 | 11 | 3 | BeFree_GAD_LHGDN |
| Cardiovascular Diseases | 0.018555193 | 10 | 1 | BeFree_GAD_LHGDN |
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