KCNJ4 (potassium inwardly rectifying channel subfamily J member 4)
- symbol:
- KCNJ4
- locus group:
- protein-coding gene
- location:
- 22q13.1
- gene_family:
- Potassium channels, inwardly rectifying subfamily J
- alias symbol:
- Kir2.3|HIR|HRK1|hIRK2|IRK3
- alias name:
- None
- entrez id:
- 3761
- ensembl gene id:
- ENSG00000168135
- ucsc gene id:
- uc003avt.3
- refseq accession:
- NM_004981
- hgnc_id:
- HGNC:6265
- approved reserved:
- 1995-04-13
KCNJ4（钾电压门控通道亚家族J成员4）属于内向整流钾通道（Kir）基因家族，该家族以允许钾离子选择性内流并调控细胞膜电位为共同特征。KCNJ4编码Kir2.3蛋白，主要在心脏、大脑和骨骼肌中表达，其核心功能是通过维持静息膜电位参与动作电位复极化和电信号传导。在心脏中，Kir2.3与Kir2.1等家族成员形成异源四聚体，共同稳定心肌细胞静息电位并防止异常兴奋；在大脑则通过调节神经元兴奋性影响突触传递。该基因突变可能导致通道功能丧失或获得性异常，例如错义突变E145K会削弱内向整流特性，与心房颤动、短QT综合征等心律失常相关，还可能引发神经功能障碍如癫痫发作。KCNJ4过表达会增强钾电流导致细胞超极化，可能引起心动过缓或神经抑制，而表达降低则可能诱发膜电位去极化，增加心律失常或神经元过度兴奋风险。值得注意的是，KCNJ4与KCNJ2/KCNJ12等家族成员具有高度保守的P环和选择性过滤器结构域，但Kir2.3特有的酸性残基使其对胞内多胺阻滞更敏感。此外，该基因表达受SP1转录因子调控，并与ANK2编码的锚蛋白B存在蛋白互作，这种相互作用缺陷可导致离子通道定位异常。在疾病关联方面，KCNJ4表达失调已被报道与精神分裂症和抑郁症相关，可能通过影响前额叶皮层神经元活动导致认知功能障碍。
Several different potassium channels are known to be involved with electrical signaling in the nervous system. One class is activated by depolarization whereas a second class is not. The latter are referred to as inwardly rectifying K+ channels, and they have a greater tendency to allow potassium to flow into the cell rather than out of it. This asymmetry in potassium ion conductance plays a key role in the excitability of muscle cells and neurons. The protein encoded by this gene is an integral membrane protein and member of the inward rectifier potassium channel family. The encoded protein has a small unitary conductance compared to other members of this protein family. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
几种不同的钾离子通道已知与神经系统电信号传导有关。一类是由去极化激活而第二类是没有的。后者被称为向内整流K +通道，它们具有更大的倾向，以允许钾流入细胞而不是在它外面。这种不对称在钾离子传导在肌肉细胞和神经元的兴奋性的关键作用。由该基因编码的蛋白质是内向整流钾离子通道家族的一个完整的膜蛋白和构件。相比该蛋白质家族的其它成员编码的蛋白质具有小的单一电导。已发现了该基因编码的蛋白质相同的两个转录变异体。 [由RefSeq的，2008年7月提供]
基因本体信息
KCNJ4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
KCNJ4基因的本体（GO）信息：
| 名称 |
|---|
| 4921 Oxytocin signaling pathway [PATH:hsa04921] |
| 4725 Cholinergic synapse [PATH:hsa04725] |
| 名称 |
|---|
| Activation of G protein gated Potassium channels |
| Activation of GABAB receptors |
| Classical Kir channels |
| G protein gated Potassium channels |
| GABA B receptor activation |
| GABA receptor activation |
| Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits |
| Inwardly rectifying K+ channels |
| Neuronal System |
| Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell |
| Potassium Channels |
| Transmission across Chemical Synapses |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Parkinson Disease | 0.12 | 1 | 0 | CTD_human |
| Nerve Degeneration | 0.12 | 1 | 0 | CTD_human |
| Conotruncal heart defects | 0.12 | 1 | 1 | GWASCAT |
| Hyperparathyroidism, Secondary | 0.002367032 | 1 | 0 | GAD |
| Diabetes Mellitus, Non-Insulin-Dependent | 0.001085767 | 4 | 0 | BeFree |
| Prediabetes syndrome | 0.000271442 | 1 | 0 | BeFree |
| Hyperinsulinism | 0.000271442 | 1 | 0 | BeFree |
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