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

Homo sapiens

Also known as LQT5; LQT6; ATFB4; MIRP1

Gene ID: 9992 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (2)

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