KCNE3 - potassium voltage-gated channel subfamily E regulatory subunit 3 Gene

中文名称：钾电压门控通道亚族 E 调节亚基 3

种属: Homo sapiens

同用名: HYPP; HOKPP; MiRP2; BRGDA6

基因 ID: 10008 | 基因类型: protein coding

关于 KCNE3

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:74,454,841-74,467,549 (from NCBI)

This gene has 6 transcripts (splice variants), 122 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in duodenum (RPKM 10.8), stomach (RPKM 10.5) and 18 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。该基因在肾脏中显着表达。该基因的错义突变与低血钾性周期性麻痹有关。[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 kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]

KCNE3 基因产物(1)

mRNA	Protein	Name
NM_005472.5	NP_005463.1	potassium voltage-gated channel subfamily E member 3

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
enables potassium channel regulator activity	IDA IDA: 通过直接分析推断	12954870	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20533308	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of delayed rectifier potassium channel activity	IDA IDA: 通过直接分析推断	12954870	GOA
involved in negative regulation of membrane repolarization during ventricular cardiac muscle cell action potential	IMP IMP: 通过突变表型推断	22987075	GOA
involved in negative regulation of potassium ion export across plasma membrane	IDA IDA: 通过直接分析推断	22987075	GOA
involved in negative regulation of voltage-gated potassium channel activity	IDA IDA: 通过直接分析推断	22987075	GOA
involved in regulation of heart rate by cardiac conduction	IMP IMP: 通过突变表型推断	22987075	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	12954870	GOA
located in dendrite	IDA IDA: 通过直接分析推断	12954870	GOA
located in membrane raft	IDA IDA: 通过直接分析推断	20533308	GOA
located in neuronal cell body membrane	IDA IDA: 通过直接分析推断	12954870	GOA
located in perikaryon	IDA IDA: 通过直接分析推断	12954870	GOA
colocalizes with plasma membrane	IPI IPI: 通过物理相互作用推断	10646604	GOA
located in vesicle	IDA IDA: 通过直接分析推断	10646604	GOA
part of voltage-gated potassium channel complex	IDA IDA: 通过直接分析推断	12954870	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

KCNE3 蛋白结构

ISK_Channel

0
103 a.a.

蛋白主名

其他名称

potassium voltage-gated channel subfamily E member 3

cardiac voltage-gated potassium channel accessory subunit

关联疾病

疾病名称

别名

Brugada Syndrome 6

BRGDA6

Brugada Syndrome, Type 6

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

Periodic Paralysis

Westphal Disease	Periodic Myotonia
Myoplegic Dystrophy	Familial Recurrent Paralysis
Familial Myoplegia	Cavare Disease
Cavarre Disease	Familial Paralysis
Familial Periodic Paralysis	Myotonic Periodic Paralysis

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]

Right Bundle Branch Block

Right Bundle Branch Block With Left Posterior Fascicular Block

Long Qt Syndrome

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

Familial Periodic Paralysis

Genetic Periodic Paralysis

Paralyses, Familial Periodic

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

Short Qt Syndrome

Sqts	Familial Short Qt Syndrome

Paramyotonia Congenita Of Von Eulenburg

Paramyotonia Congenita	PMC
Paralysis Periodica Paramyotonica	Eulenburg Disease
Myotonia Congenita Intermittens	Von Eulenburg Paramyotonia Congenita
Paralysis Periodica Paramyotonia	Von Eulenberg'S Disease
Paramyotonia Congenita Without Cold Paralysis	Eulenburg Syndrome
Paramyotonia

Hyperkalemic Periodic Paralysis

HYPP	Gamstorp Disease
Gamstorp Episodic Adynamy	Adynamia Episodica Hereditaria With Or Without Myotonia
Familial Hyperkalemic Periodic Paralysis	Hyperkpp
Hyperpp	Adynamia Episodica Hereditaria
Primary Hyperkalemic Periodic Paralysis	Hyperkalemic Periodic Paralysis, Type 2
Sodium Channel Muscle Disease	Familial Hyperpp
Hyperkalemic Pp	Primary Hyperpp
Periodic Paralysis Hyperkalemic	Periodic Paralysis Normokalemic
NKPP	Periodic Paralysis Eukalemic
Paralysis, Hyperkalemic Periodic	Paralysis, Periodic, Hyperkalemic
Potassium Aggravated Myotonia

Long Qt Syndrome 5

LQT5	Long Qt Syndrome 2/5
Lqt2/5	Susceptibility To Acquired Long Qt Syndrome 5
Long Qt Syndrome-5	Long Qt Syndrome 5, Acquired, Susceptibility To
Qt Syndrome, Long, Type 5	Long Qt Syndrome 2-5

Peripheral Vertigo

Vertigo, Peripheral

Meniere Disease

Meniere'S Disease	Otogenic Vertigo
Ménière Disease	Ménière'S Disease
Mnire'S Vertigo	Auditory Vertigo
Aural Vertigo	Meniere'S Syndrome
Ménière'S Vertigo	Primary Endolymphatic Hydrops
Menieres Disease	Vertigo, Aural
Labyrinth Hydrops	Labyrinthine Hydrops
Labyrinthine Vertigo	Ménière Syndrome
Ménière Vertigo	Idiopathic Endolymphatic Hydrops

Astigmatism

Plummer'S Disease

Toxic Nodular Goiter	Plummer Disease
Goiter Toxic Nodular

Myotonia Congenita

Congenital Myotonia, Autosomal Dominant Form	Congenital Myotonia
Thomsen And Becker Disease	Thomsen Disease
Thomsen'S Disease	Generalized Myotonia Of Thomsen
Congenital Myotonic Muscular Dystrophy	Myotonia Congenita Nos

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

Deafness, Autosomal Recessive 98

DFNB98	Autosomal Recessive Nonsyndromic Deafness 98
Autosomal Recessive Deafness 98	Deafness, Autosomal Recessive, 98
Deafness, Autosomal Recessive, Type 98

Long Qt Syndrome 2

LQT2	Long Qt Syndrome, Acquired, Reduced Susceptibility To
Long Qt Syndrome 1/2	Long Qt Syndrome 2/3
Long Qt Syndrome 2/5	Long Qt Syndrome 2, Acquired, Susceptibility To
Long Qt Syndrome, Acquired, Reduced	Long Qt Syndrome Type 2
Long Qt Syndrome 2/9	Lqt1/2
Lqt2/3	Lqt2/5
Lqt2/9	Susceptibility To Acquired Long Qt Syndrome 2
Long Qt Syndrome-2	Qt Syndrome, Long, Type 2
Long Qt Syndrome 1-2	Long Qt Syndrome 2-3
Long Qt Syndrome 2-5	Long Qt Syndrome 9

Familial Atrial Fibrillation

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

Catecholaminergic Polymorphic Ventricular Tachycardia

Cpvt	Catecholamine-Induced Polymorphic Ventricular Tachycardia
Familial Polymorphic Ventricular Tachycardia	Malignant Paroxysmal Ventricular Tachycardia
Multifocal Ventricular Premature Beats	Stress-Induced Polymorphic Ventricular Tachycardia
Bidirectional Tachycardia Induced By Catecholamine	Double Tachycardia Induced By Catecholamines
Polymorphic Catecholergic Ventricular Tachycardia	Syncopal Paroxysmal Tachycardia
Bidirectional Tachycardia Induced By Catecholamines	Fpvt
Bidirectional Ventricular Tachycardia Induced By Catecholamine	Polymorphic Ventricular Tachycardia Induced By Catecholamines
Ventricular Tachycardia, Catecholaminergic Polymorphic	Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
Familial Ventricular Tachycardia	Multifocal Pvcs
Multifocal Premature Ventricular Beats

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction Cardiomyopathy

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-RS07117	KCNE3 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	KCNE3	VGNC	VGNC:42242
Rattus norvegicus	KCNE3	RGD	RGD:621384
Macaca mulatta	KCNE3	VGNC	VGNC:73977
Bos taurus	KCNE3	VGNC	VGNC:30438
Felis catus	KCNE3	VGNC	VGNC:67904
Mus musculus	KCNE3	MGD	MGI:1891124

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站点地图隐私声明

沪ICP备15051369号-4

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）

KCNE3 - potassium voltage-gated channel subfamily E regulatory subunit 3 Gene

关于 KCNE3

功能概要

KCNE3 基因产物(1)

KCNE3 蛋白结构

关联疾病

直系同源

热门区域

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KCNE3 - potassium voltage-gated channel subfamily E regulatory subunit 3 Gene

关于 KCNE3

功能概要

KCNE3 基因产物(1)

KCNE3 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