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

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3741

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

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.
Protein Preferred Names Protein Names

potassium voltage-gated channel subfamily A member 5

  • cardiac potassium channel

KCNA5 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KCNA5 P22460 TMEM107 Homo sapiens Q6UX40 32296183
Intra
KCNA5 P22460 SCRIB Homo sapiens Q14160 24550280
Intra
KCNA5 P22460 ACTN2 Homo sapiens P35609
Y2H
10812072
Intra
KCNA5 P22460 ACTN2 Homo sapiens P35609 10812072
Cross: Cross-species interaction Intra: Intraspecies interaction

KCNA5 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810895 Kv1.5 Antibody WB, IHC-P, ICC/IF Human, Mouse, Rat
HY-P86930 KCNA5/KV1-5 Antibody (YA6623) WB Human, Mouse, Rat

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

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
Others KCNA5 NCBI