KCNE3 - potassium voltage-gated channel subfamily E regulatory subunit 3 Gene

Also Known as HYPP; HOKPP; MiRP2; BRGDA6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10008

About KCNE3

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:74,454,841-74,467,549 (from NCBI)

This gene has 6 transcripts (splice variants), 122 orthologues, 1 paralogue and is associated with 3 phenotypes. Broad expression in duodenum (RPKM 10.8), stomach (RPKM 10.5) and 18 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. This gene encodes a member of the Potassium Channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a Potassium Channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]

KCNE3 Products (1)

mRNA	Protein	Name
NM_005472.5	NP_005463.1	potassium voltage-gated channel subfamily E member 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables potassium channel regulator activity	IDA IDA: Inferred from direct assay	12954870	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20533308	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of delayed rectifier potassium channel activity	IDA IDA: Inferred from direct assay	12954870	GOA
involved in negative regulation of membrane repolarization during ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	22987075	GOA
involved in negative regulation of potassium ion export across plasma membrane	IDA IDA: Inferred from direct assay	22987075	GOA
involved in negative regulation of voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	22987075	GOA
involved in regulation of heart rate by cardiac conduction	IMP IMP: Inferred from mutant phenotype	22987075	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	12954870	GOA
located in dendrite	IDA IDA: Inferred from direct assay	12954870	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	20533308	GOA
located in neuronal cell body membrane	IDA IDA: Inferred from direct assay	12954870	GOA
located in perikaryon	IDA IDA: Inferred from direct assay	12954870	GOA
colocalizes with plasma membrane	IPI IPI: Inferred from physical interaction	10646604	GOA
located in vesicle	IDA IDA: Inferred from direct assay	10646604	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	12954870	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

KCNE3 Protein Structure

ISK_Channel

0
103 a.a.

Protein Preferred Names	Protein Names
potassium voltage-gated channel subfamily E member 3	cardiac voltage-gated potassium channel accessory subunit

Related Diseases

Diseases	Alias
Brugada Syndrome 6	BRGDA6 Brugada Syndrome, Type 6
Hypokalemic Periodic Paralysis, Type 1	Hypokalemic Periodic Paralysis Hokpp Hypopp Westphall Disease HOKPP1 Familial Hypokalemic Periodic Paralysis Familial Periodic Paralysis Westphal Disease Hypokalemic Periodic Paralysis Type 1 Hypokalemic Familial Periodic Paralysis Periodic Hypokalemic Paralysis Periodic Paralysis I Hypokpp Primary Hypokalemic Periodic Paralysis Periodic Paralysis Hypokalemic 1 Paralysis, Hypokalemic, Periodic Paralysis, Hypokalemic, Periodic, Type 1
Periodic Paralysis	Westphal Disease Periodic Myotonia Myoplegic Dystrophy Familial Recurrent Paralysis Familial Myoplegia Cavare Disease Cavarre Disease Familial Paralysis Familial Periodic Paralysis Myotonic Periodic Paralysis
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
Familial Periodic Paralysis	Genetic Periodic Paralysis Paralyses, Familial Periodic
Jervell And Lange-Nielsen Syndrome 1	Jervell And Lange-Nielsen Syndrome Jervell-Lange Nielsen Syndrome Prolonged Qt Interval In Ekg And Sudden Death Cardioauditory Syndrome Of Jervell And Lange-Nielsen Surdo-Cardiac Syndrome JLNS1 Deafness, Congenital, And Functional Heart Disease Jlns Long Qt Interval-Deafness Syndrome Jervell And Lange-Nielson Syndrome Jervell Lange-Nielsen Syndrome Autosomal Recessive Long Qt Syndrome Cardio-Auditory-Syncope Syndrome Long Qt Interval-Hearing Loss Syndrome Congenital Deafness And Functional Heart Disease Long Qt Interval-Deafness
Short Qt Syndrome	Sqts Familial Short Qt Syndrome
Paramyotonia Congenita Of Von Eulenburg	Paramyotonia Congenita PMC Paralysis Periodica Paramyotonica Eulenburg Disease Myotonia Congenita Intermittens Von Eulenburg Paramyotonia Congenita Paralysis Periodica Paramyotonia Von Eulenberg'S Disease Paramyotonia Congenita Without Cold Paralysis Eulenburg Syndrome Paramyotonia
Hyperkalemic Periodic Paralysis	HYPP Gamstorp Disease Gamstorp Episodic Adynamy Adynamia Episodica Hereditaria With Or Without Myotonia Familial Hyperkalemic Periodic Paralysis Hyperkpp Hyperpp Adynamia Episodica Hereditaria Primary Hyperkalemic Periodic Paralysis Hyperkalemic Periodic Paralysis, Type 2 Sodium Channel Muscle Disease Familial Hyperpp Hyperkalemic Pp Primary Hyperpp Periodic Paralysis Hyperkalemic Periodic Paralysis Normokalemic NKPP Periodic Paralysis Eukalemic Paralysis, Hyperkalemic Periodic Paralysis, Periodic, Hyperkalemic Potassium Aggravated Myotonia
Long Qt Syndrome 5	LQT5 Long Qt Syndrome 2/5 Lqt2/5 Susceptibility To Acquired Long Qt Syndrome 5 Long Qt Syndrome-5 Long Qt Syndrome 5, Acquired, Susceptibility To Qt Syndrome, Long, Type 5 Long Qt Syndrome 2-5
Peripheral Vertigo	Vertigo, Peripheral
Meniere Disease	Meniere'S Disease Otogenic Vertigo Ménière Disease Ménière'S Disease Mnire'S Vertigo Auditory Vertigo Aural Vertigo Meniere'S Syndrome Ménière'S Vertigo Primary Endolymphatic Hydrops Menieres Disease Vertigo, Aural Labyrinth Hydrops Labyrinthine Hydrops Labyrinthine Vertigo Ménière Syndrome Ménière Vertigo Idiopathic Endolymphatic Hydrops
Astigmatism
Plummer'S Disease	Toxic Nodular Goiter Plummer Disease Goiter Toxic Nodular
Myotonia Congenita	Congenital Myotonia, Autosomal Dominant Form Congenital Myotonia Thomsen And Becker Disease Thomsen Disease Thomsen'S Disease Generalized Myotonia Of Thomsen Congenital Myotonic Muscular Dystrophy Myotonia Congenita Nos
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
Deafness, Autosomal Recessive 98	DFNB98 Autosomal Recessive Nonsyndromic Deafness 98 Autosomal Recessive Deafness 98 Deafness, Autosomal Recessive, 98 Deafness, Autosomal Recessive, Type 98
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
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 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
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
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

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-142991	1-Palmitoyl-2-oleoyl-sn-glycero-3-phosphatidylglycerol		/	Unkown
HY-RS07117	KCNE3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	KCNE3	VGNC	VGNC:42242
Rattus norvegicus	KCNE3	RGD	RGD:621384
Macaca mulatta	KCNE3	VGNC	VGNC:73977
Bos taurus	KCNE3	VGNC	VGNC:30438
Felis catus	KCNE3	VGNC	VGNC:67904
Mus musculus	KCNE3	MGD	MGI:1891124
Others	KCNE3	NCBI