GNG4 (G protein subunit gamma 4)
- symbol:
- GNG4
- locus group:
- protein-coding gene
- location:
- 1q42.3
- gene_family:
- alias symbol:
- None
- alias name:
- None
- entrez id:
- 2786
- ensembl gene id:
- ENSG00000168243
- ucsc gene id:
- uc009xfz.4
- refseq accession:
- NM_004485
- hgnc_id:
- HGNC:4407
- approved reserved:
- 1995-11-21
GNG4（鸟嘌呤核苷酸结合蛋白γ亚基4）属于G蛋白γ亚基家族，是异源三聚体G蛋白的重要组成部分。G蛋白由α、β和γ亚基组成，在细胞信号转导中起核心作用，参与调控多种生理过程，如神经传递、激素分泌和细胞增殖。GNG4作为γ亚基之一，与Gβ亚基紧密结合形成Gβγ二聚体，共同参与G蛋白偶联受体（GPCR）介导的信号通路。当GPCR被配体激活时，Gα亚基释放GDP并结合GTP，导致Gβγ二聚体解离并自由调控下游效应分子，如离子通道、腺苷酸环化酶和磷脂酶C。GNG4主要在神经系统、心脏和胰腺中表达，对神经元发育和突触可塑性有重要影响。GNG4突变可能导致信号转导异常，与神经系统疾病、心血管疾病和某些癌症相关。例如，GNG4表达异常与神经母细胞瘤、胶质瘤和胰腺癌的发生发展有关。过表达GNG4可能增强Gβγ信号，导致细胞增殖和迁移异常，促进肿瘤进展；而降低表达可能削弱GPCR信号传导，影响神经功能和心脏节律。GNG4属于Gγ家族，该家族共有12个成员（GNG1-GNG12），它们具有高度保守的结构，均含有异戊二烯化修饰位点（CAAX盒），这是膜定位和功能发挥的关键。家族成员通过与不同Gβ亚基组合，产生多样的Gβγ二聚体，从而特异性调控不同GPCR通路。GNG4与Gβ1、Gβ2和Gβ4亚基有较高亲和力，形成的二聚体主要参与抑制腺苷酸环化酶和激活MAPK通路。研究表明，GNG4在神经突触中富集，可能通过调节钙通道影响神经递质释放，其缺失可能导致认知功能障碍。此外，GNG4在胰岛素分泌细胞中表达，可能参与血糖调控，其异常表达可能与糖尿病相关。总体而言，GNG4作为G蛋白信号系统的关键组分，其表达水平和功能状态对维持正常生理活动和疾病发生具有重要作用。
None
无
基因本体信息
GNG4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
GNG4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] |
| 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 |
| Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits |
| Integration of energy metabolism |
| Inwardly rectifying K+ channels |
| Metabolism |
| Neuronal System |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell |
| Opioid Signalling |
| 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 |
| 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 |
| Menopause present (finding) | 0.002367032 | 1 | 1 | GAD |
| Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
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