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

Homo sapiens

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

Gene ID: 3752 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07114	KCND3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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