1. Gene
  2. KCNE4 - potassium voltage-gated channel subfamily E regulatory subunit 4 Gene

KCNE4 - potassium voltage-gated channel subfamily E regulatory subunit 4 Gene

中文名称:钾电压门控通道亚家族 E 调节亚基 4

种属: Homo sapiens

同用名: MIRP3

基因 ID: 23704 | 基因类型: protein coding

关于 KCNE4

Cytogenetic location: 2q36.1 Genomic coordinates (GRCh38): 2:223,052,190-223,055,637 (from NCBI)

This gene has 2 transcripts (splice variants) and 192 orthologues. Broad expression in endometrium (RPKM 17.0), gall bladder (RPKM 15.1) and 21 other tissues.

功能概要

从功能和结构的角度来看,电压门控钾 (Kv) 通道代表了最复杂的一类电压门控离子通道。它们的不同功能包括调节神经递质释放、心率、胰岛素分泌、神经元兴奋性、上皮电解质转运、平滑肌收缩和细胞体积。该基因编码钾通道、电压门控、isk 相关亚家族的成员。该成员是 I 型膜蛋白和与钾通道 α 亚基组装以调节门控动力学并增强多聚体复合物稳定性的 β 亚基。该基因在胚胎和成年子宫中显着表达。[RefSeq 提供,2008 年 7 月]

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, Insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the Potassium Channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a Potassium Channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the embryo and in adult uterus. [provided by RefSeq, Jul 2008]

KCNE4 基因产物(1)

mRNA Protein Name
NM_080671.4 NP_542402.4 potassium voltage-gated channel subfamily E member 4
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables potassium channel inhibitor activity IDA
IDA: 通过直接分析推断
27162025 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19687231 GOA
enables transmembrane transporter binding IPI
IPI: 通过物理相互作用推断
19687231 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

KCNE4 蛋白结构

ISK_Channel

ISK_Channel: Slow voltage-gated potassium channel (79 - 133)

  • 0
  • 100
  • 200
  • 221 a.a.
蛋白主名 其他名称

potassium voltage-gated channel subfamily E member 4

MINK-related peptide 3

KCNE4 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra KCNE4 Q8WWG9 TRDN Homo sapiens Q13061-2
Y2H Array
32296183
Intra KCNE4 Q8WWG9 TRDN Homo sapiens Q13061-2
Y2H Prey Pooling
32296183
Intra KCNE4 Q8WWG9 CAMLG Homo sapiens P49069
Y2H Array
32296183
Intra KCNE4 Q8WWG9 CAMLG Homo sapiens P49069
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Deafness, Autosomal Recessive 98

DFNB98

Autosomal Recessive Nonsyndromic Deafness 98

Autosomal Recessive Deafness 98

Deafness, Autosomal Recessive, 98

Deafness, Autosomal Recessive, Type 98

Jervell And Lange-Nielsen Syndrome 1

Jervell And Lange-Nielsen Syndrome

Jervell-Lange Nielsen Syndrome

Prolonged Qt Interval In Ekg And Sudden Death

Cardioauditory Syndrome Of Jervell And Lange-Nielsen

Surdo-Cardiac Syndrome

JLNS1

Deafness, Congenital, And Functional Heart Disease

Jlns

Long Qt Interval-Deafness Syndrome

Jervell And Lange-Nielson Syndrome

Jervell Lange-Nielsen Syndrome

Autosomal Recessive Long Qt Syndrome

Cardio-Auditory-Syncope Syndrome

Long Qt Interval-Hearing Loss Syndrome

Congenital Deafness And Functional Heart Disease

Long Qt Interval-Deafness

Hypokalemic Periodic Paralysis, Type 1

Hypokalemic Periodic Paralysis

Hokpp

Hypopp

Westphall Disease

HOKPP1

Familial Hypokalemic Periodic Paralysis

Familial Periodic Paralysis

Westphal Disease

Hypokalemic Periodic Paralysis Type 1

Hypokalemic Familial Periodic Paralysis

Periodic Hypokalemic Paralysis

Periodic Paralysis I

Hypokpp

Primary Hypokalemic Periodic Paralysis

Periodic Paralysis Hypokalemic 1

Paralysis, Hypokalemic, Periodic

Paralysis, Hypokalemic, Periodic, 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

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]

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus KCNE4 VGNC VGNC:30439
Macaca mulatta KCNE4 VGNC VGNC:73978
Felis catus KCNE4 VGNC VGNC:104697
Mus musculus KCNE4 MGD MGI:1891125
Rattus norvegicus KCNE4 RGD RGD:1302957
Canis familiaris KCNE4 VGNC VGNC:57388