2. Gene
  3. KCNA4 - potassium voltage-gated channel subfamily A member 4 Gene

KCNA4 - potassium voltage-gated channel subfamily A member 4 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：钾电压门控通道亚家族 A 成员 4

种属: Homo sapiens

同用名: HK1; HBK4; PCN2; HPCN2; HUKII; KCNA8; KV1.4; KCNA4L; MCIDDS

基因 ID: 3739 | 基因类型: protein coding

关于 KCNA4

Cytogenetic location: 11p14.1 Genomic coordinates (GRCh38): 11:30,009,730-30,017,030 (from NCBI)

This gene has 2 transcripts (splice variants), 178 orthologues, 31 paralogues and is associated with 2 phenotypes. Biased expression in adrenal (RPKM 3.8), brain (RPKM 1.8) and 4 other tissues.

功能概要

从功能和结构的角度来看，钾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、摇床相关亚家族的成员。该成员包含六个跨膜结构域，在第四部分中具有振动型重复序列。它属于 A 型钾电流类别，其成员可能在心脏动作电位快速复极化阶段的调节中起重要作用，因此可能影响心脏动作电位的持续时间。[RefSeq 提供，2011 年 3 月]

Potassium 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, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the A-type potassium current class, the members of which may be important in the regulation of the fast repolarizing phase of action potentials in heart and thus may influence the duration of cardiac action potential.[provided by RefSeq, Mar 2011]

KCNA4 基因产物(1)

mRNA Protein Name
NM_002233.4 NP_002224.1 potassium voltage-gated channel subfamily A member 4
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 protein binding IPI
IPI: 通过物理相互作用推断
7477295 GOA
enables voltage-gated potassium channel activity IDA
IDA: 通过直接分析推断
8495559 GOA
enables voltage-gated potassium channel activity IMP
IMP: 通过突变表型推断
19912772 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
8495559 GOA
involved in potassium ion transmembrane transport IMP
IMP: 通过突变表型推断
19912772 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IMP
IMP: 通过突变表型推断
8495559 GOA
part of voltage-gated potassium channel complex IMP
IMP: 通过突变表型推断
8495559 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

KCNA4 蛋白结构

K_channel_TID

K_channel_TID: Potassium channel Kv1.4 tandem inactivation domain (1 - 75)

BTB_2

BTB_2: BTB/POZ domain (178 - 266)

Ion_trans

Ion_trans: Ion transport protein (373 - 559)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 653 a.a.
蛋白主名 其他名称

potassium voltage-gated channel subfamily A member 4

cardiac potassium channel

KCNA4 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 KCNA4 P22459 DLG1 Homo sapiens Q12959
Anti Tag CoIP
33961781
Cross KCNA4 P22459 Dlg3 Rattus norvegicus Q62936
ELISA
11937501
Cross KCNA4 P22459 Dlg3 Rattus norvegicus Q62936
FPS
11937501
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
Microcephaly, Cataracts, Impaired Intellectual Development, And Dystonia With Abnormal Striatum

MCIDDS
Episodic Ataxia, Type 1

Episodic Ataxia Type 1

Episodic Ataxia/Myokymia Syndrome

EA1

Episodic Ataxia With Myokymia

Eam

Ataxia, Episodic, With Myokymia

Aem

Paroxysmal Ataxia With Neuromyotonia, Hereditary

Myokymia With Periodic Ataxia

Episodic Ataxia 1

Aemk

Ea-1

Paroxysmal Ataxia With Neuromyotonia

Myokymia Isolated 1

MK1

Ataxia, Episodic, Type 1

Continuous Muscle Fiber Activity, Hereditary

Isaacs Syndrome
Diffuse Alopecia Areata

Diffuse Alopecia
Episodic Ataxia, Type 4

Episodic Ataxia Type 4

Periodic Vestibulocerebellar Ataxia

Patx

EA4

Ataxia, Periodic Vestibulocerebellar
Episodic Ataxia, Type 3

Episodic Ataxia Type 3

EA3

Ataxia, Episodic, With Vertigo And Tinnitus

Episodic Ataxia-Vertigo-Tinnitus-Myokymia Syndrome
Episodic Ataxia, Type 7

Episodic Ataxia Type 7

EA7
Episodic Ataxia, Type 8

Episodic Ataxia Type 8

EA8

Episodic Ataxia With Slurred Speech
Episodic Ataxia, Type 5

Episodic Ataxia Type 5

EA5

Episodic Ataxia 5

Ea-5

Ataxia, Episodic, Type 5
Diamond-Blackfan Anemia 3

DBA3

Anemia, Diamond-Blackfan, 3

Rps24-Related Diamond-Blackfan Anemia

Anemia Diamond-Blackfan 3

Anemia, Diamond-Blackfan, Type 3
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Waardenburg Syndrome, Type 4c

Waardenburg Syndrome Type 4c

WS4C

Waardenburg Syndrome Type Ivc

Waardenburg Syndrome With Hirschsprung Disease Type 4c

Waardenburg Syndrome With Hirschsprung Disease, Type 4c

Waardenburg Syndrome, Type Ivc

Waardenburg Syndrome 4c

Hirschsprung Disease With Pigmentary Anomaly

Shah-Waardenburg Syndrome

Waardenburg-Shah Syndrome

Waardenburg Syndrome, Type 4a
Thymus Gland Disease

Disease Of Thymus Gland
Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity
Thymus Cancer

Thymic Neoplasm

Thymic Tumor

Thymus Neoplasm

Thymus Neoplasms

Malignant Neoplasm Of Thymus

Neoplasm Of Thymus

Thymic Neoplasms

Thymoma, Familial

Thymic Carcinoma

Thymoma, Type C

Cancer Of Thymus

Malignant Tumour Of Thymus

Primary Malignant Neoplasm Of Thymus

Thymic Glandular Cancer

Thymus Gland Cancer
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
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
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
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]
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07100 KCNA4 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris KCNA4 VGNC VGNC:42231
Bos taurus KCNA4 VGNC VGNC:30424
Macaca mulatta KCNA4 VGNC VGNC:110507
Felis catus KCNA4 VGNC VGNC:67893
Rattus norvegicus KCNA4 RGD RGD:2952
Mus musculus KCNA4 MGD MGI:96661
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