KCNJ3 - potassium inwardly rectifying channel subfamily J member 3 Gene

中文名称：钾内向整流通道亚家族 J 成员 3

种属: Homo sapiens

同用名: KGA; GIRK1; KIR3.1

基因 ID: 3760 | 基因类型: protein coding

关于 KCNJ3

Cytogenetic location: 2q24.1 Genomic coordinates (GRCh38): 2:154,698,695-154,858,354 (from NCBI)

This gene has 4 transcripts (splice variants), 222 orthologues and 15 paralogues. Biased expression in brain (RPKM 10.3), heart (RPKM 5.7) and 8 other tissues.

功能概要

钾通道存在于大多数哺乳动物细胞中，它们参与广泛的生理反应。该基因编码的蛋白是一种完整的膜蛋白和内向整流型钾通道。编码的蛋白质更倾向于让钾流入细胞而不是流出细胞，它受 G 蛋白控制，在调节心跳方面起着重要作用。它与其他三个 G 蛋白激活的钾通道结合形成异多聚体成孔复合物，该复合物还与大脑中的神经递质受体偶联，通道激活可以通过超极化质膜来抑制动作电位放电。这些多聚体 G 蛋白门控内向整流钾 (GIRK) 通道可能在癫痫、成瘾、唐氏综合症、共济失调和帕金森病的病理生理学中发挥作用。可变剪接导致编码不同蛋白质的多个转录变体。[RefSeq 提供，2012 年 5 月]

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type Potassium Channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three Other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]

KCNJ3 基因产物(4)

mRNA	Protein	Name
NM_001260508.2	NP_001247437.1	G protein-activated inward rectifier potassium channel 1 isoform 2
NM_001260509.2	NP_001247438.1	G protein-activated inward rectifier potassium channel 1 isoform 3
NM_001260510.2	NP_001247439.1	G protein-activated inward rectifier potassium channel 1 isoform 4
NM_002239.4	NP_002230.1	G protein-activated inward rectifier potassium channel 1 isoform 1

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
contributes to inward rectifier potassium channel activity	IDA IDA: 通过直接分析推断	12297500	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12297500	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in potassium ion import across plasma membrane	IDA IDA: 通过直接分析推断	20560207	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of voltage-gated potassium channel complex	IDA IDA: 通过直接分析推断	20560207	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

KCNJ3 蛋白结构

IRK

0
100
200
300
400
501 a.a.

蛋白主名

其他名称

G protein-activated inward rectifier potassium channel 1

GIRK-1

关联疾病

疾病名称

别名

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Long Qt Syndrome

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

Night Blindness, Congenital Stationary, Type 1h

Congenital Stationary Night Blindness 1h	CSNB1H
Congenital Stationary Night Blindness Type 1h	Night Blindness, Congenital Stationary, 1h

Vitreoretinal Degeneration, Snowflake Type

Snowflake Vitreoretinal Degeneration	SVD
Snowflake Degeneration In Hereditary Vitreoretinal Degeneration

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

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

Familial Atrial Fibrillation

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

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy	Generalised Epilepsy
Epilepsy, Generalized	EIG
Ige	Epilepsy, Idiopathic Generalized, Susceptibility To, 1
Epilepsy, Idiopathic Generalized 1	Epilepsy, Idiopathic Generalized, Susceptibility To
Epilepsy, Idiopathic, Generalized	Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Long Qt Syndrome 1

Romano-Ward Syndrome	LQT1
Ward-Romano Syndrome	Rws
Ventricular Fibrillation With Prolonged Qt Interval	Wrs
Long Qt Syndrome 1, Acquired, Susceptibility To	Long Qt Syndrome 1, Acquired
Romano-Ward Long Qt Syndrome	Long Qt Syndrome Type 1
Long Qt Syndrome-1	Acquired Susceptibility To Long Qt Syndrome 1
Qt Syndrome, Long, Type 1

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-RS07146	KCNJ3 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS22587	Kcnj3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS29104	Kcnj3 Rat 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	KCNJ3	RGD	RGD:2958
Bos taurus	KCNJ3	VGNC	VGNC:30461
Macaca mulatta	KCNJ3	VGNC	VGNC:73989
Mus musculus	KCNJ3	MGD	MGI:104742
Felis catus	KCNJ3	VGNC	VGNC:67915
Canis familiaris	KCNJ3	VGNC	VGNC:42264

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

粤ICP备2021105330号-3

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

KCNJ3 - potassium inwardly rectifying channel subfamily J member 3 Gene

关于 KCNJ3

功能概要

KCNJ3 基因产物(4)

KCNJ3 蛋白结构

关联疾病

直系同源

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KCNJ3 - potassium inwardly rectifying channel subfamily J member 3 Gene

关于 KCNJ3

功能概要

KCNJ3 基因产物(4)

KCNJ3 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z