KCND2 - potassium voltage-gated channel subfamily D member 2 Gene

中文名称：钾电压门控通道亚家族 D 成员 2

种属: Homo sapiens

同用名: RK5; KV4.2

基因 ID: 3751 | 基因类型: protein coding

关于 KCND2

Cytogenetic location: 7q31.31 Genomic coordinates (GRCh38): 7:120,272,908-120,750,337 (from NCBI)

This gene has 3 transcripts (splice variants), 190 orthologues and 31 paralogues. Biased expression in brain (RPKM 4.5), endometrium (RPKM 1.1) and 5 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。四种序列相关的钾通道基因——shaker、shaw、shab 和 shal——已在果蝇中被鉴定出来，并且每一种都被证明具有人类同系物。该基因编码钾通道、电压门控、shal 相关亚家族的成员，其成员形成电压激活的 A 型钾离子通道，并且在动作电位的复极化阶段中很突出。该成员介导快速失活的 A 型外向钾电流，该电流不受 N 末端的控制，因为它在摇床通道中。[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. Four sequence-related Potassium Channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the Potassium Channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]

KCND2 基因产物(1)

mRNA	Protein	Name
NM_012281.3	NP_036413.1	potassium voltage-gated channel subfamily D member 2 precursor

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 A-type (transient outward) potassium channel activity	IDA IDA: 通过直接分析推断	10551270	GOA
enables A-type (transient outward) potassium channel activity	IMP IMP: 通过突变表型推断	15454437	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	10551270	GOA
enables voltage-gated potassium channel activity	IDA IDA: 通过直接分析推断	24811166	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in action potential	IDA IDA: 通过直接分析推断	14980201	GOA
involved in membrane repolarization	IDA IDA: 通过直接分析推断	14980201	GOA
involved in muscle contraction	IDA IDA: 通过直接分析推断	11287421	GOA
involved in potassium ion transmembrane transport	IDA IDA: 通过直接分析推断	10551270	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of Kv4.2-KChIP2 channel complex	IPI IPI: 通过物理相互作用推断	14980201	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	10551270	GOA
located in plasma membrane	IMP IMP: 通过突变表型推断	15454437	GOA
part of voltage-gated potassium channel complex	IDA IDA: 通过直接分析推断	15454437	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

KCND2 蛋白结构

Shal-type

BTB_2

Ion_trans

DUF3399

0
100
200
300
400
500
630 a.a.

蛋白主名

其他名称

potassium voltage-gated channel subfamily D member 2

potassium channel, voltage gated Shal related subfamily D, member 2

KCND2 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
种属内	KCND2	Q9NZV8	KCNIP2	Homo sapiens	Q9NS61	EM	14980201
种属内	KCND2	Q9NZV8	KCNIP2	Homo sapiens	Q9NS61	Density Sedimentation	14623880
种属内	KCND2	Q9NZV8	KCNIP2	Homo sapiens	Q9NS61-3	Pull Down	15358149
种属内	KCND2	Q9NZV8	KCNIP1	Homo sapiens	Q9NZI2	Pull Down	15358149

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

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

Long Qt Syndrome

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

Pervasive Developmental Disorder

Pervasive Development Disorder	Pervasive Developmental Disorders
Pervasive Child Development Disorders	Autistic Behavior
Autism Spectrum Disorders

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]

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

Fragile X Syndrome

FXS	Martin-Bell Syndrome
Fraxa Syndrome	Marker X Syndrome
X-Linked Mental Retardation And Macroorchidism	Fragile X Mental Retardation Syndrome
Fra Syndrome	Mental Retardation, X-Linked, Associated With Marxq28
X-Linked Intellectual Disability And Macroorchidism	Frax Syndrome
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Fragile-X Syndrome
Fraxe Syndrome

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Diamond-Blackfan Anemia 3

DBA3	Anemia, Diamond-Blackfan, 3
Rps24-Related Diamond-Blackfan Anemia	Anemia Diamond-Blackfan 3
Anemia, Diamond-Blackfan, Type 3

Cycloplegia

Ciliary Muscle Paresis	Cycloplegic Paralysis Of Accommodation
Paresis Of Accommodation	Visual Accommodation Paralysis
Accommodation Paralysis	Intrinsic Paralysis Of Eye Muscle
Cycloplegic

Developmental And Epileptic Encephalopathy 7

Epileptic Encephalopathy, Early Infantile, 7	DEE7
Eiee7	Kcnq2-Related Epileptic Encephalopathy
Kcnq2-Related Neonatal Epileptic Encephalopathy	Developmental And Epileptic Encephalopathy, 7
Early Infantile Epileptic Encephalopathy 7	Kcnq2-Nee
Ohtahara Syndrome	Encephalopathy, Epileptic, Early Infantile, Type 7
Early Infantile Epileptic Encephalopathy With Suppression Bursts

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Catecholaminergic Polymorphic Ventricular Tachycardia 2	CPVT2
Vtsip	Bidirectional Tachycardia
Stress-Induced Polymorphic Ventricular Tachycardia	Ventricular Tachycardia, Stress-Induced Polymorphic
Cvpt2	Double Tachycardia Induced By Catecholamines
Malignant Paroxysmal Ventricular Tachycardia	Multifocal Ventricular Premature Beats
Paroxysmal Ventricular Fibrillation	Syncopal Paroxysmal Tachycardia
Syncopal Tachyarythmia	Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 2
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1	Multifocal Pvcs
Multifocal Premature Ventricular Beats	Paroxysmal Familial Ventricular Fibrillation

Hyperekplexia

Hereditary Hyperekplexia	Kok Disease
Congenital Stiff Man Syndrome	Familial Startle Disease
Sthe	Stiff-Baby Syndrome
Hereditary Hyperexplexia	Startle Disease
Exaggerated Startle Reaction	Hyperexplexia Hereditary
Startle Disease, Familial	Startle Reaction, Exaggerated
Stiff-Man Syndrome, Congenital	Stiff-Person Syndrome, Congenital
Congenital Stiff-Man Syndrome	Congenital Stiff-Person Syndrome
Familial Hyperekplexia	Startle Syndrome
Stiff Baby Syndrome	Hyperekplexia, Hereditary
Stiff-Person Syndrome

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

Paroxysmal Extreme Pain Disorder

PEPD	Familial Rectal Pain
Pexpd	Submandibular, Ocular, And Rectal Pain With Flushing
Pain, Submandibular, Ocular, And Rectal, With Flushing	Rectal Pain, Familial
Submandibular, Ocular And Rectal Pain With Flushing	Familial Rectal Syndrome
Frp	Pain Disorder, Paroxysmal, Extreme

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

Episodic Ataxia

Isaacs Syndrome	Neuromyotonia
Isaacs' Syndrome	Acquired Neuromyotonia
Continuous Muscle Fiber Activity Syndrome	Quantal Squander Syndrome
Isaacs-Mertens Syndrome	Ea Syndrome
Episodic Ataxia Syndrome	Isaac Syndrome
Isaac'S-Merten'S Syndrome	Isaac-Mertens Syndrome
Peripheral Nerve Hyperexcitability	Ea
Peripheral Nerve Hyperexcitability Syndrome	Ataxia, Episodic
Isaacs Neuromyotonia	Continuous Muscle Fibre Activity

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated 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-RS07113	KCND2 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS21609	Kcnd2 Mouse 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	KCND2	RGD	RGD:68393
Mus musculus	KCND2	MGD	MGI:102663
Bos taurus	KCND2	VGNC	VGNC:30435
Felis catus	KCND2	VGNC	VGNC:102619
Macaca mulatta	KCND2	VGNC	VGNC:73976

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
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）
Copyright © 2013-2025 MedChemExpress. All Rights Reserved.

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

沪ICP备15051369号-4