KCND3 - potassium voltage-gated channel subfamily D member 3 Gene

Also Known as KV4.3; SCA19; SCA22; BRGDA9; KCND3L; KCND3S; KSHIVB

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3752

About KCND3

Cytogenetic location: 1p13.2 Genomic coordinates (GRCh38): 1:111,770,662-111,989,668 (from NCBI)

This gene has 7 transcripts (splice variants), 263 orthologues, 31 paralogues and is associated with 5 phenotypes. Broad expression in brain (RPKM 4.9), prostate (RPKM 2.7) and 17 other tissues.

Summary

Voltage-gated potassium (Kv) 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, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq, Jul 2008]

KCND3 Products (4)

mRNA	Protein	Name
NM_001378969.1	NP_001365898.1	potassium voltage-gated channel subfamily D member 3 isoform 1 precursor
NM_001378970.1	NP_001365899.1	potassium voltage-gated channel subfamily D member 3 isoform 2 precursor
NM_004980.5	NP_004971.2	potassium voltage-gated channel subfamily D member 3 isoform 1 precursor
NM_172198.3	NP_751948.1	potassium voltage-gated channel subfamily D member 3 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to A-type (transient outward) potassium channel activity	IDA IDA: Inferred from direct assay	21349352	GOA
enables A-type (transient outward) potassium channel activity	IDA IDA: Inferred from direct assay	9843794	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14980207	GOA
contributes to voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP IMP: Inferred from mutant phenotype	21349352	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in membrane repolarization	IDA IDA: Inferred from direct assay	21493962	GOA
involved in potassium ion export across plasma membrane	IDA IDA: Inferred from direct assay	21349352	GOA
involved in potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	9843794	GOA
involved in potassium ion transport	IDA IDA: Inferred from direct assay	14980207	GOA
involved in protein tetramerization	IDA IDA: Inferred from direct assay	14980207	GOA
involved in regulation of heart rate by cardiac conduction	IMP IMP: Inferred from mutant phenotype	21349352	GOA
involved in ventricular cardiac muscle cell membrane repolarization	IMP IMP: Inferred from mutant phenotype	21349352	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of Kv4.3-KChIP1 channel complex	IPI IPI: Inferred from physical interaction	17187064	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	23280837	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	21493962	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

KCND3 Protein Structure

Shal-type

BTB_2

Ion_trans

DUF3399

0
200
400
600
655 a.a.

Protein Preferred Names	Protein Names
potassium voltage-gated channel subfamily D member 3	potassium channel, voltage gated Shal related subfamily D, member 3

KCND3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KCND3	Q9UK17	KCNIP1	Homo sapiens	Q9NZI2	Pull Down	17187064

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia 19	Spinocerebellar Ataxia 22 SCA19 Sca22 Ataxia, Spinocerebellar, Type 19
Brugada Syndrome 9	BRGDA9 Brugada Syndrome, Type 9
Spinocerebellar Ataxia Type 19/22	Sca19/22 Spinocerebellar Ataxia 19 And 22
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
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]
Right Bundle Branch Block	Right Bundle Branch Block With Left Posterior Fascicular Block
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Spinocerebellar Ataxia 13	Spinocerebellar Ataxia Type 13 SCA13 Autosomal Dominant Cerebellar Ataxia With Intellectual Disability Cerebellar Ataxia, Autosomal Dominant With Intellectual Disability Spinocerebellar Ataxia-13 Ataxia, Spinocerebellar, Type 13
Rheumatic Heart Disease	Rheumatic Carditis Rheumatic Congestive Heart Failure Congestive Rheumatic Heart Failure Rheumatic Heart Failure RHD Rheumatic Fever Inactive Or Quiescent With Heart Disease Rheumatic Fever Inactive Or Quiescent With Carditis Organ Rheumatic Heart Disease Organic Rheumatic Heart Disease Inactive Rheumatic Heart Disease Rheumatic Heart Rheumatic Fever Inactive Or Quiescent With Pancarditis Rhd - [Rheumatic Heart Disease] Rheumatic Cardiac Hypertrophy Rheumatic Fever Inactive Or Quiescent With Cardiac Hypertrophy Rheumatic Pancarditis Inactive Rhd - [Rheumatic Heart Disease] Rheumatic Nonischaemic Cardiopathy
Cerebellar Ataxia Type 43	Sca43
Spinocerebellar Ataxia, Autosomal Recessive 4	SCAR4 Scasi Spinocerebellar Ataxia With Saccadic Intrusions Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome Spinocerebellar Ataxia 24 Autosomal Recessive Spinocerebellar Ataxia 4 Sca24 Spinocerebellar Ataxia 24, Formerly Sca24, Formerly Spinocerebellar Ataxia Autosomal Recessive 4 Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
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
Cerebellar Ataxia Type 48	Sca48
Brugada Syndrome 5	BRGDA5 Cardiac Conduction Defect, Nonspecific Brugada Syndrome, Type 5
Short Qt Syndrome	Sqts Familial Short Qt Syndrome
Spastic Paraplegia 41, Autosomal Dominant	SPG41 Hereditary Spastic Paraplegia 41 Autosomal Dominant Spastic Paraplegia Type 41 Autosomal Dominant Spastic Paraplegia 41
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
Spinocerebellar Ataxia, Autosomal Recessive 17	Autosomal Recessive Spinocerebellar Ataxia 17 SCAR17 Autosomal Recessive Cerebellar Ataxia Due To Cwf19l1 Deficiency Spinocerebellar Ataxia Autosomal Recessive Type 17 Spinocerebellar Ataxia, Autosomal Recessive, 17 Ataxia, Spinocerebellar, Autosomal Recessive, Type 17
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
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
Brugada Syndrome 1	BRGDA1 Sudden Unexplained Nocturnal Death Syndrome Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome Sunds Brugada Syndrome, Type 1 Brugada Syndrome
Long Qt Syndrome 3	LQT3 Long Qt Syndrome Type 3 Long Qt Syndrome-3 Qt Syndrome, Long, Type 3
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
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
Catecholaminergic Polymorphic Ventricular Tachycardia	Cpvt Catecholamine-Induced Polymorphic Ventricular Tachycardia Familial Polymorphic Ventricular Tachycardia Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Stress-Induced Polymorphic Ventricular Tachycardia Bidirectional Tachycardia Induced By Catecholamine Double Tachycardia Induced By Catecholamines Polymorphic Catecholergic Ventricular Tachycardia Syncopal Paroxysmal Tachycardia Bidirectional Tachycardia Induced By Catecholamines Fpvt Bidirectional Ventricular Tachycardia Induced By Catecholamine Polymorphic Ventricular Tachycardia Induced By Catecholamines Ventricular Tachycardia, Catecholaminergic Polymorphic Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 Familial Ventricular Tachycardia Multifocal Pvcs Multifocal Premature Ventricular Beats
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric Septal Hypertrophy Familial Hypertrophic Cardiomyopathy Hypertrophic Cardiomyopathy 1 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc Cardiomyopathy, Hypertrophic, Familial, Type 1
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Spastic Ataxia	Spax Ataxia, Spastic
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
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07114	KCND3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20972	Kcnd3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27489	Kcnd3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	KCND3	RGD	RGD:68394
Canis familiaris	KCND3	VGNC	VGNC:42240
Macaca mulatta	KCND3	VGNC	VGNC:106396
Bos taurus	KCND3	VGNC	VGNC:30436
Mus musculus	KCND3	MGD	MGI:1928743
Felis catus	KCND3	VGNC	VGNC:67902
Others	KCND3	NCBI