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

Also Known as HK1; HBK4; PCN2; HPCN2; HUKII; KCNA8; KV1.4; KCNA4L; MCIDDS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3739

About 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.

Summary

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 Products (1)

mRNA	Protein	Name
NM_002233.4	NP_002224.1	potassium voltage-gated channel subfamily A member 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	7477295	GOA
enables voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	8495559	GOA
enables voltage-gated potassium channel activity	IMP IMP: Inferred from mutant phenotype	19912772	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	8495559	GOA
involved in potassium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	19912772	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	8495559	GOA
part of voltage-gated potassium channel complex	IMP IMP: Inferred from mutant phenotype	8495559	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

KCNA4 Protein Structure

K_channel_TID

BTB_2

Ion_trans

0
100
200
300
400
500
600
653 a.a.

Protein Preferred Names	Protein Names
potassium voltage-gated channel subfamily A member 4	cardiac potassium channel

KCNA4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
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

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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

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

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS07100	KCNA4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21608	Kcna4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28126	Kcna4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	KCNA4	NCBI