KCNE2 - potassium voltage-gated channel subfamily E regulatory subunit 2 Gene

Also Known as LQT5; LQT6; ATFB4; MIRP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9992

About KCNE2

Cytogenetic location: 21q22.11 Genomic coordinates (GRCh38): 21:34,364,006-34,371,381 (from NCBI)

This gene has 1 transcript (splice variant), 164 orthologues, 1 paralogue and is associated with 4 phenotypes. Biased expression in stomach (RPKM 72.9) and duodenum (RPKM 4.0).

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 small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008]

KCNE2 Products (1)

mRNA	Protein	Name
NM_172201.2	NP_751951.1	potassium voltage-gated channel subfamily E member 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
contributes to delayed rectifier potassium channel activity	IDA IDA: Inferred from direct assay	10219239	GOA
contributes to inward rectifier potassium channel activity	IDA IDA: Inferred from direct assay	10219239	GOA
enables potassium channel regulator activity	IDA IDA: Inferred from direct assay	10219239	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11101505	GOA
enables transmembrane transporter binding	IDA IDA: Inferred from direct assay	10219239	GOA
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP IMP: Inferred from mutant phenotype	10219239	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cardiac muscle cell action potential involved in contraction	IMP IMP: Inferred from mutant phenotype	10219239	GOA
involved in cellular response to xenobiotic stimulus	IDA IDA: Inferred from direct assay	10219239	GOA
involved in membrane repolarization	IDA IDA: Inferred from direct assay	10219239	GOA
involved in membrane repolarization during action potential	IMP IMP: Inferred from mutant phenotype	10219239	GOA
involved in membrane repolarization during ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	10219239	GOA
involved in negative regulation of delayed rectifier potassium channel activity	IDA IDA: Inferred from direct assay	19219384	GOA
involved in positive regulation of proteasomal protein catabolic process	IDA IDA: Inferred from direct assay	22180649	GOA
involved in potassium ion export across plasma membrane	IDA IDA: Inferred from direct assay	10219239	GOA
involved in potassium ion import across plasma membrane	IMP IMP: Inferred from mutant phenotype	10219239	GOA
involved in potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	10219239	GOA
involved in regulation of heart rate by cardiac conduction	IMP IMP: Inferred from mutant phenotype	10219239	GOA
involved in regulation of membrane repolarization	IDA IDA: Inferred from direct assay	10219239	GOA
involved in regulation of potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	10219239	GOA
involved in regulation of ventricular cardiac muscle cell membrane repolarization	IMP IMP: Inferred from mutant phenotype	10219239	GOA
involved in ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	10219239	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cell surface	IDA IDA: Inferred from direct assay	22180649	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	19219384	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	10219239	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

KCNE2 Protein Structure

ISK_Channel

0
100
123 a.a.

Protein Preferred Names	Protein Names
potassium voltage-gated channel subfamily E member 2	cardiac voltage-gated potassium channel accessory subunit 2

Related Diseases

Diseases	Alias
Long Qt Syndrome 6	LQT6 Long Qt Syndrome 3/6 Lqt3/6 Susceptibility To Acquired Long Qt Syndrome 6 Long Qt Syndrome-6 Long Qt Syndrome 6, Acquired, Susceptibility To Qt Syndrome, Long, Type 6 Long Qt Syndrome 3-6
Atrial Fibrillation, Familial, 4	ATFB4 Fibrillation, Atrial, Familial, Type 4
Platelet Disorder, Familial, With Associated Myeloid Malignancy	FPDMM Fpd/Aml Familial Platelet Disorder With Associated Myeloid Malignancy Platelet Disorder, Aspirin-Like Fps/Aml Familial Platelet Disorder With Predisposition To Acute Myelogenous Leukemia Familial Platelet Disorder With Predisposition To Myeloid Malignancy Familial Platelet Disorder With Propensity To Acute Myeloid Leukemia Familial Thrombocytopenia With Propensity To Acute Myelogenous Leukemia Thrombocytopenia, Familial, With Propensity To Acute Myelogenous Leukemia Asprin-Like Platelet Disorder Fpd/Aml Syndrome Fps/Aml Syndrome Familial Platelet Syndrome With Predisposition To Acute Myelogenous Leukemia Hereditary Thrombocytopenia With Normal Platelets-Hematological Cancer Predisposition Syndrome Runx1 Fpd/Aml
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
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
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Atrial Fibrillation	A-Fib Fibrillation, Atrial Af - [Atrial Fibrillation] Rapid Atrial Fibrillation A Fib - [Atrial Fibrillation]
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
Cardiac Arrhythmia, Ankyrin-B-Related	Long Qt Syndrome 4 Ankyrin-B Syndrome LQT4 Ankyrin-B-Related Cardiac Arrhythmia Sick Sinus Syndrome With Bradycardia Arrhythmia, Cardiac, Ankyrin B-Related
Atrioventricular Block	Av Block
Andersen Cardiodysrhythmic Periodic Paralysis	Andersen Syndrome Andersen-Tawil Syndrome LQT7 Long Qt Syndrome 7 Ats Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type Long Qt Syndrome Type 7 Andersen Tawil Syndrome Potassium-Sensitive Cardiodysrhythmic Type Lqts Type 7 Long Qt Syndrome-7
Long Qt Syndrome 3	LQT3 Long Qt Syndrome Type 3 Long Qt Syndrome-3 Qt Syndrome, Long, Type 3
Long Qt Syndrome 9	LQT9 Long Qt Syndrome-9 Qt Syndrome, Long, Type 9
Long Qt Syndrome 10	LQT10 Atrial Fibrillation, Familial, 17 ATFB17 Long Qt Syndrome-10 Qt Syndrome, Long, Type 10
Ventricular Fibrillation, Paroxysmal Familial, 1	Paroxysmal Familial Ventricular Fibrillation Ivf Ventricular Fibrillation, Idiopathic Ventricular Fibrillation VF1 Vf Ventricular Fibrillation, Familial, 1 Paroxysmal Ventricular Fibrillation Idiopathic Ventricular Fibrillation Ventricular Fibrillation, Paroxysmal Familial, Type 1 Ventricular Fibrillation, Paroxysmal Familial Familial Paroxysmal Ventricular Fibrillation 1 Susceptibility To Ventricular Fibrillation During Myocardial Infarction Ventricular Fibrillation Adverse Event
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 12	LQT12 Qt Syndrome, Long, Type 12
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
Brugada Syndrome 3	BRGDA3 Brugada Syndrome, Type 3
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]
Long Qt Syndrome 13	LQT13 Qt Syndrome, Long, Type 13
Long Qt Syndrome 11	LQT11 Long Qt Syndrome-11 Qt Syndrome, Long, Type 11
Short Qt Syndrome	Sqts Familial Short Qt Syndrome
Congestive Heart Failure	Congestive Heart Disease Heart Failure Cardiac Failure Congestive Chf Weak Heart Heart Failure Congestive Ccf - [Congestive Cardiac Failure] Chf - [Congestive Heart Failure] Congestive Cardiac Diseases Congested Heart Failure Congestive Cardiac Failure Cardiac Anasarca Cardiac Oedema Cardiac Stasis Cardiovascular Oedema Cardiac Hydrops Congestive Failure Heart Congestion Heart Fluid Oedematous Heart
Timothy Syndrome	Long Qt Syndrome With Syndactyly TS Lqt8 Long Qt Syndrome 8 Long Qt Syndrome Type 8 Long Qt Syndrome-Syndactyly Syndrome
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
Intrinsic Cardiomyopathy
Osteogenesis Imperfecta, Type Ii	Vrolik Type Of Osteogenesis Imperfecta Osteogenesis Imperfecta Type 2 OI2 Oi, Type Ii Osteogenesis Imperfecta Congenita Oic Osteogenesis Imperfecta Type Ii Lethal Osteogenesis Imperfecta Oi Type 2 Osteogenesis Imperfecta Congenita Perinatal Lethal Form Osteogenesis Imperfecta Congenita, Perinatal Lethal Form Perinatal Lethal Osteogenesis Imperfecta Congenita Perinatally Lethal Oi Osteogenesis Imperfecta 2 Oi-Ii Oi-Iia Oi Type Iia Osteogenesis Imperfecta Type Iia Osteogenesis Imperfecta Type Ii Autosomal Dominant Oi Type Ii Osteogenesis Imperfecta, Dominant Perinatal Lethal
Sinoatrial Node Disease	Sa Node Sinuatrial Node Sinus Node Dysfunction
Deafness, Autosomal Recessive 98	DFNB98 Autosomal Recessive Nonsyndromic Deafness 98 Autosomal Recessive Deafness 98 Deafness, Autosomal Recessive, 98 Deafness, Autosomal Recessive, Type 98
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
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
Gingival Fibromatosis	Hereditary Gingival Fibromatosis Hereditary Gingival Hyperplasia Autosomal Dominant Gingival Fibromatosis Autosomal Dominant Gingival Hyperplasia Fibromatosis, Gingival, Hereditary Fibromatosis, Gingival
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
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
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07116	KCNE2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-121977	IKs124	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	KCNE2	VGNC	VGNC:67903
Rattus norvegicus	KCNE2	RGD	RGD:621383
Mus musculus	KCNE2	MGD	MGI:1891123
Canis familiaris	KCNE2	VGNC	VGNC:42241
Bos taurus	KCNE2	VGNC	VGNC:30437
Others	KCNE2	NCBI