KCNJ4 - potassium inwardly rectifying channel subfamily J member 4 Gene

中文名称：钾内向整流通道亚家族 J 成员 4

种属: Homo sapiens

同用名: HIR; HRK1; IRK3; HIRK2; IRK-3; Kir2.3

基因 ID: 3761 | 基因类型: protein coding

关于 KCNJ4

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:38,426,327-38,455,199 (from NCBI)

This gene has 1 transcript (splice variant), 253 orthologues and 15 paralogues. Biased expression in brain (RPKM 14.9) and heart (RPKM 6.3).

功能概要

已知几种不同的钾通道与神经系统中的电信号有关。一类是由去极化激活的，而第二类则不是。后者被称为内向整流 K+ 通道，它们更倾向于让钾流入细胞而不是流出细胞。钾离子电导的这种不对称性在肌肉细胞和神经元的兴奋性中起着关键作用。由该基因编码的蛋白质是一种完整的膜蛋白，是内向整流钾通道家族的成员。与该蛋白质家族的其他成员相比，所编码的蛋白质具有较小的单一电导。已发现该基因编码相同蛋白质的两个转录变体。[RefSeq 提供，2008 年 7 月]

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]

KCNJ4 基因产物(2)

mRNA	Protein	Name
NM_004981.2	NP_004972.1	inward rectifier potassium channel 4
NM_152868.3	NP_690607.1	inward rectifier potassium channel 4

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables PDZ domain binding	IPI IPI: 通过物理相互作用推断	16855024	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16855024	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in basolateral plasma membrane	IDA IDA: 通过直接分析推断	16855024	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

KCNJ4 蛋白结构

IRK

0
100
200
300
400
445 a.a.

蛋白主名

其他名称

inward rectifier potassium channel 4

hippocampal inward rectifier potassium channel

关联疾病

疾病名称

别名

Andersen Cardiodysrhythmic Periodic Paralysis

Andersen Syndrome	Andersen-Tawil Syndrome
LQT7	Long Qt Syndrome 7
Ats	Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type
Long Qt Syndrome Type 7	Andersen Tawil Syndrome
Potassium-Sensitive Cardiodysrhythmic Type	Lqts Type 7
Long Qt Syndrome-7

Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance

Sesame Syndrome	East Syndrome
SESAMES	Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance	Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome
Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome	Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance	Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome
Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome	Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance
Epilepsy Ataxia Sensorineural Deafness And Tubulopathy	Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome

Myasthenic Syndrome, Congenital, 8

Congenital Myasthenic Syndrome 8	CMS8
Myasthenic Syndrome, Congenital, With Pre- And Postsynaptic Defects	Cmsppd
Myasthenic Syndrome, Congenital, 8, With Pre- And Postsynaptic Defects	Congenital Myasthenic Syndrome Due To Agrin Deficiency
Myasthenic Syndrome, Congenital, Due To Agrin Deficiency	Congenital Myasthenic Syndrome 8 With Pre- And Postsynaptic Defects
Myasthenic Syndrome, Congenital, Type 8, With Pre- And Postsynaptic Defects

Vitreoretinal Degeneration, Snowflake Type

Snowflake Vitreoretinal Degeneration	SVD
Snowflake Degeneration In Hereditary Vitreoretinal Degeneration

Long Qt Syndrome 9

LQT9	Long Qt Syndrome-9
Qt Syndrome, Long, Type 9

Familial Atrial Fibrillation

Atrial Fibrillation, Familial	Atfb
Atrial Fibrillation Autosomal Dominant	Autosomal Dominant Atrial Fibrillation
Auricular Fibrillation	Atrial Fibrillation
Atrial Fibrillation, Familial, 1

Long Qt Syndrome

Romano-Ward Syndrome	Long Q-T Syndrome
Lqt	Qt Syndrome, Long
Congenital Long Qt Syndrome	Familial Long Qt Syndrome

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome	Sudden Unexplained Nocturnal Death Syndrome
Bangungut	Brugada Type Idiopathic Ventricular Fibrillation
Pokkuri Death Syndrome	Sunds
Idiopathic Ventricular Fibrillation, Brugada Type	Sudden Unexplained Death
Dream Disease	Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
Sudden Unexplained Death Syndrome	Suds
Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

疾病名称	别名
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS07147	KCNJ4 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	KCNJ4	RGD	RGD:621436
Bos taurus	KCNJ4	VGNC	VGNC:106790
Felis catus	KCNJ4	VGNC	VGNC:82442
Mus musculus	KCNJ4	MGD	MGI:104743
Canis familiaris	KCNJ4	VGNC	VGNC:42265

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