1. Gene
  2. KCNA5 - potassium voltage-gated channel subfamily A member 5 Gene

KCNA5 - potassium voltage-gated channel subfamily A member 5 Gene

中文名称:钾电压门控通道亚家族 A 成员 5

种属: Homo sapiens

同用名: HK2; HCK1; PCN1; ATFB7; HPCN1; KV1.5

基因 ID: 3741 | 基因类型: protein coding

关于 KCNA5

Cytogenetic location: 12p13.32 Genomic coordinates (GRCh38): 12:5,043,879-5,046,788 (from NCBI)

This gene has 1 transcript (splice variant), 170 orthologues, 31 paralogues and is associated with 2 phenotypes.

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 ino 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。属于延迟整流类,其作用是恢复β细胞去极化后的静息膜电位,从而有助于调节胰岛素分泌。该基因无内含子,与 12 号染色体上的基因 KCNA1 和 KCNA6 成簇。该基因的缺陷是家族性心房颤动 7 型 (ATFB7) 的一个原因。[RefSeq 提供,2012 年 5 月]

Potassium channels represent the most complex class of voltage-gated ino 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 delayed rectifier class, the function of which could restore the resting membrane potential of beta cells after depolarization and thereby contribute to the regulation of Insulin secretion. This gene is intronless, and the gene is clustered with genes KCNA1 and KCNA6 on chromosome 12. Defects in this gene are a cause of familial atrial fibrillation type 7 (ATFB7). [provided by RefSeq, May 2012]

KCNA5 基因产物(1)

mRNA Protein Name
NM_002234.4 NP_002225.2 potassium voltage-gated channel subfamily A member 5
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
23264583 GOA
located in intercalated disc IDA
IDA: 通过直接分析推断
7615797 GOA
located in membrane raft IDA
IDA: 通过直接分析推断
18218624 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
7615797 GOA
located in plasma membrane IMP
IMP: 通过突变表型推断
20018952 GOA
part of potassium channel complex IDA
IDA: 通过直接分析推断
12130714 GOA
part of voltage-gated potassium channel complex IDA
IDA: 通过直接分析推断
1986382 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

KCNA5 蛋白结构

BTB_2

BTB_2: BTB/POZ domain (122 - 212)

Ion_trans

Ion_trans: Ion transport protein (326 - 515)

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

potassium voltage-gated channel subfamily A member 5

cardiac potassium channel

KCNA5 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
KCNA5 P22460 TMEM107 Homo sapiens Q6UX40
Validated Y2H
32296183
种属内
KCNA5 P22460 SCRIB Homo sapiens Q14160
Phage Display
24550280
种属内
KCNA5 P22460 ACTN2 Homo sapiens P35609
Y2H
10812072
种属内
KCNA5 P22460 ACTN2 Homo sapiens P35609
Anti Bait CoIP
10812072
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
Atrial Fibrillation, Familial, 7

ATFB7

Fibrillation, Atrial, Familial, Type 7

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

Atrial Fibrillation

A-Fib

Fibrillation, Atrial

Af - [Atrial Fibrillation]

Rapid Atrial Fibrillation

A Fib - [Atrial Fibrillation]

Insulinoma

Islet Cell Adenoma

Insulin-Producing Tumor Of Islet Cells

Adenoma Islet Cell

Islet Cell Tumor

Experimental Organism Islet Cell Adenoma Neoplasm

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Cardiomyopathy, Dilated, 1o

Dilated Cardiomyopathy 1o

CMD1O

Dilated Cardiomyopathy With Ventricular Tachycardia

Cardiomyopathy, Dilated, With Ventricular Tachycardia

Cardiomyopathy, Dilated 1o

Cardiomyopathy, Dilated, Type 1o

Pulmonary Venoocclusive Disease

Pulmonary Veno-Occlusive Disease

Obstructive Disease Of The Pulmonary Veins

Pvod

Isolated Pulmonary Venous Sclerosis

Venous Form Of Primary Pulmonary Hypertension

Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

Orthostatic Intolerance

Mitral Valve Prolapse

Neurocirculatory Asthenia

Mitral Valve Prolapse Syndrome

Irritable Heart

Systolic Click-Murmur Syndrome

Soldiers Heart

Cardiovascular Malfunction Arising From Mental Factors

Cardiovascular Neurosis

Da Costa'S Syndrome

Krishaber'S Disease

Barlow'S Syndrome

Floppy Mitral Valve

Mitral Leaflet Syndrome

Myxomatous Mitral Valve Prolapse

Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

Orthostatic Intolerance Due To Net Deficiency

Pots Due To Net Deficiency

OI

Intolerance, Orthostatic

Mitral Valve Prolapse, Familial, X-Linked

Ballooning Mitral Valve

Barlow Syndrome

Flail Mitral Leaflet

Myxomatous Mitral Valve

Mitral Valve Prolapse-Click Syndrome

Prolapsing Mitral Valve Leaflet Syndrome

Billowing Mitral Valve Leaflet

Posterior Mitral Leaflet Deformity

Ballooning Posterior Leaflet Syndrome

Blue Valve Syndrome

Floppy Mitral Valve Syndrome

Mitral Valvular Prolapse

Systolic Click Syndrome

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

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

Isolated Elevated Serum Creatine Phosphokinase Levels

Elevated Serum Cpk

Idiopathic Hyperckemia

Isolated Hyperckemia

Elevated Serum Creatine Phosphokinase

H-Ck

Idiopathic Persistent Elevation Of Serum Creatine Kinase

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]

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris KCNA5 VGNC VGNC:42232
Macaca mulatta KCNA5 VGNC VGNC:73965
Bos taurus KCNA5 VGNC VGNC:30425
Mus musculus KCNA5 MGD MGI:96662
Rattus norvegicus KCNA5 RGD RGD:2953
Felis catus KCNA5 VGNC VGNC:84042