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

Homo sapiens

Also known as HK2; HCK1; PCN1; ATFB7; HPCN1; KV1.5

Gene ID: 3741 | Gene type: protein coding

About 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.

Summary

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 Products(1)

mRNA	Protein	Name
NM_002234.4	NP_002225.2	potassium voltage-gated channel subfamily A member 5

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables alpha-actinin binding	IPI IPI: Inferred from physical interaction	10812072	GOA
enables delayed rectifier potassium channel activity	IDA IDA: Inferred from direct assay	1986382	GOA
enables delayed rectifier potassium channel activity	IMP IMP: Inferred from mutant phenotype	19343045	GOA
enables outward rectifier potassium channel activity	IDA IDA: Inferred from direct assay	12970345	GOA
enables outward rectifier potassium channel activity	IMP IMP: Inferred from mutant phenotype	16236819	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10812072	GOA
enables protein kinase binding	IPI IPI: Inferred from physical interaction	8953041	GOA
enables scaffold protein binding	IPI IPI: Inferred from physical interaction	12970345	GOA
enables voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	8505626	GOA
enables voltage-gated potassium channel activity	IMP IMP: Inferred from mutant phenotype	17267549	GOA
enables voltage-gated potassium channel activity involved in SA node cell action potential repolarization	IMP IMP: Inferred from mutant phenotype	19343045	GOA
enables voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IMP IMP: Inferred from mutant phenotype	19343045	GOA
enables voltage-gated potassium channel activity involved in bundle of His cell action potential repolarization	IMP IMP: Inferred from mutant phenotype	23264583	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in atrial cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	19343045	GOA
involved in membrane hyperpolarization	IMP IMP: Inferred from mutant phenotype	16236819	GOA
involved in membrane repolarization during SA node cell action potential	IMP IMP: Inferred from mutant phenotype	19343045	GOA
involved in membrane repolarization during atrial cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	19343045	GOA
involved in membrane repolarization during bundle of His cell action potential	IMP IMP: Inferred from mutant phenotype	23264583	GOA
involved in potassium ion export across plasma membrane	IDA IDA: Inferred from direct assay	1986382	GOA
involved in potassium ion export across plasma membrane	IMP IMP: Inferred from mutant phenotype	16236819	GOA
involved in potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	12130714	GOA
acts upstream of or within potassium ion transport	IDA IDA: Inferred from direct assay	8576199	GOA
involved in regulation of atrial cardiac muscle cell membrane repolarization	IMP IMP: Inferred from mutant phenotype	19343045	GOA
involved in regulation of heart rate by cardiac conduction	IMP IMP: Inferred from mutant phenotype	19343045	GOA
involved in regulation of membrane potential	IDA IDA: Inferred from direct assay	1986382	GOA
involved in regulation of potassium ion transport	IMP IMP: Inferred from mutant phenotype	12021261	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cell surface	IDA IDA: Inferred from direct assay	23264583	GOA
located in intercalated disc	IDA IDA: Inferred from direct assay	7615797	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	18218624	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	7615797	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	20018952	GOA
part of potassium channel complex	IDA IDA: Inferred from direct assay	12130714	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	1986382	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCNA5 Protein Structure

BTB_2

Ion_trans

0
100
200
300
400
500
613 a.a.

Protein Preferred Names

Protein Names

potassium voltage-gated channel subfamily A member 5

cardiac potassium channel

KCNA5 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	KCNA5	P22460	TMEM107	Homo sapiens	Q6UX40	Validated Y2H	32296183
Intra	KCNA5	P22460	SCRIB	Homo sapiens	Q14160	Phage Display	24550280
Intra	KCNA5	P22460	ACTN2	Homo sapiens	P35609	Y2H	10812072
Intra	KCNA5	P22460	ACTN2	Homo sapiens	P35609	Anti Bait CoIP	10812072

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07101	KCNA5 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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