KCNQ1 - potassium voltage-gated channel subfamily Q member 1 Gene

Also Known as LQT; RWS; WRS; LQT1; SQT2; ATFB1; ATFB3; JLNS1; KCNA8; KCNA9; Kv1.9; Kv7.1; KVLQT1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3784

About KCNQ1

Cytogenetic location: 11p15.5-p15.4 Genomic coordinates (GRCh38): 11:2,445,008-2,849,110 (from NCBI)

This gene has 7 transcripts (splice variants), 1 gene allele, 132 orthologues, 31 paralogues and is associated with 13 phenotypes. Broad expression in adrenal (RPKM 44.1), thyroid (RPKM 34.9) and 16 other tissues.

Summary

This gene encodes a voltage-gated Potassium Channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other Potassium Channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in Others. This gene is located in a region of chromosome 11 amongst Other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]

KCNQ1 Products (6)

mRNA	Protein	Name
NM_000218.3	NP_000209.2	potassium voltage-gated channel subfamily KQT member 1 isoform 1
NM_001406836.1	NP_001393765.1	potassium voltage-gated channel subfamily KQT member 1 isoform 3
NM_001406837.1	NP_001393766.1	potassium voltage-gated channel subfamily KQT member 1 isoform 4
NM_001406838.1	NP_001393767.1	potassium voltage-gated channel subfamily KQT member 1 isoform 5
NM_001406839.1	NP_001393768.1	potassium voltage-gated channel subfamily KQT member 1 isoform 6
NM_181798.2	NP_861463.1	potassium voltage-gated channel subfamily KQT member 1 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calmodulin binding	IDA IDA: Inferred from direct assay	18165683	GOA
contributes to delayed rectifier potassium channel activity	IDA IDA: Inferred from direct assay	8900283	GOA
enables delayed rectifier potassium channel activity	IDA IDA: Inferred from direct assay	12522251	GOA
enables outward rectifier potassium channel activity	IDA IDA: Inferred from direct assay	9312006	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: Inferred from direct assay	25037568	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12324418	GOA
enables protein kinase A catalytic subunit binding	IDA IDA: Inferred from direct assay	11799244	GOA
enables protein kinase A regulatory subunit binding	IDA IDA: Inferred from direct assay	11799244	GOA
enables protein phosphatase 1 binding	IDA IDA: Inferred from direct assay	11799244	GOA
enables scaffold protein binding	IPI IPI: Inferred from physical interaction	11799244	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	11101505	GOA
contributes to voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	12324418	GOA
enables voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	8900283	GOA
enables voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IMP IMP: Inferred from mutant phenotype	12522251	GOA
enables voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IMP IMP: Inferred from mutant phenotype	12522251	GOA
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP IMP: Inferred from mutant phenotype	8528244	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in atrial cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	12522251	GOA
involved in cardiac muscle contraction	IMP IMP: Inferred from mutant phenotype	8528244	GOA
involved in cellular response to cAMP	IDA IDA: Inferred from direct assay	11299204	GOA
involved in cellular response to cAMP	IMP IMP: Inferred from mutant phenotype	18093912	GOA
involved in cellular response to xenobiotic stimulus	IDA IDA: Inferred from direct assay	9108097	GOA
involved in membrane repolarization during action potential	IDA IDA: Inferred from direct assay	8900283	GOA
involved in membrane repolarization during atrial cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	12522251	GOA
involved in membrane repolarization during cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	8528244	GOA
involved in membrane repolarization during ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	8528244	GOA
involved in negative regulation of delayed rectifier potassium channel activity	IDA IDA: Inferred from direct assay	9305853	GOA
involved in negative regulation of voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	9305853	GOA
involved in positive regulation of cardiac muscle contraction	IMP IMP: Inferred from mutant phenotype	19646991	GOA
involved in positive regulation of heart rate	IMP IMP: Inferred from mutant phenotype	19646991	GOA
involved in positive regulation of potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	8900283	GOA
involved in potassium ion export across plasma membrane	IDA IDA: Inferred from direct assay	8900283	GOA
involved in potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	9354802	GOA
involved in regulation of atrial cardiac muscle cell membrane repolarization	IMP IMP: Inferred from mutant phenotype	12522251	GOA
involved in regulation of heart rate by cardiac conduction	IMP IMP: Inferred from mutant phenotype	8528244	GOA
involved in regulation of membrane repolarization	IDA IDA: Inferred from direct assay	11299204	GOA
involved in regulation of membrane repolarization	IMP IMP: Inferred from mutant phenotype	8900283	GOA
involved in regulation of ventricular cardiac muscle cell membrane repolarization	IMP IMP: Inferred from mutant phenotype	8528244	GOA
involved in ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	8528244	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	21228319	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	25037568	GOA
located in early endosome	IDA IDA: Inferred from direct assay	21957902	GOA
colocalizes with early endosome	IMP IMP: Inferred from mutant phenotype	23529131	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	21228319	GOA
colocalizes with endoplasmic reticulum	IPI IPI: Inferred from physical interaction	24855057	GOA
located in late endosome	IDA IDA: Inferred from direct assay	21957902	GOA
located in lysosome	IDA IDA: Inferred from direct assay	21957902	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	20533308	GOA
part of monoatomic ion channel complex	IPI IPI: Inferred from physical interaction	24855057	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	10646604	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	16002409	GOA
part of voltage-gated potassium channel complex	IPI IPI: Inferred from physical interaction	19521339	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

KCNQ1 Protein Structure

Ion_trans

KCNQ_channel

0
200
400
600
676 a.a.

Protein Preferred Names	Protein Names
potassium voltage-gated channel subfamily KQT member 1	IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1

KCNQ1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KCNQ1	P51787	KCNE1	Homo sapiens	P15382	FRET	19521339

Cross: Cross-species interaction Intra: Intraspecies interaction

KCNQ1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P84378	KCNQ1 Antibody (YA4075)	WB, FC, ELISA	Human
HY-P84378A	KCNQ1 Antibody (YA4075)(PBS only)	WB, FC, ELISA	Human

Related Diseases

Diseases	Alias
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
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
Atrial Fibrillation, Familial, 3	ATFB3 Fibrillation, Atrial, Familial, Type 3
Short Qt Syndrome 2	SQT2 Short Qt Syndrome Type 2 Short Qt Syndrome-2
Cardiovascular System Disease	Abnormality Of The Cardiovascular System Cardiovascular Disease Disease Of Subdivision Of Hemolymphoid System Disorder Of Cardiovascular System Cardiovascular Diseases
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
Familial Long Qt Syndrome	Congenital Long Qt Syndrome Lqts
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Beckwith-Wiedemann Syndrome	Wiedemann-Beckwith Syndrome BWS Exomphalos-Macroglossia-Gigantism Syndrome Emg Syndrome Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation Emg Abnormality Wbs Exomphalos Macroglossia Gigantism Syndrome Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation Macroglossia Exomphalos Gigantism
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
Cardiac Conduction Defect	Sudden Cardiac Death Cardiac Conduction Defect, Susceptibility To SCD Cardiac Conduction Abnormality Death Sudden Cardiac Cardiac Conduction Disease Conduction Disorder Of The Heart
Silver-Russell Syndrome 1	Silver-Russell Syndrome Russell-Silver Syndrome Silver-Russell Dwarfism Rss SRS1 Srs Silver Russell Dwarfism Russell Silver Syndrome Silver Russell Syndrome
Pregnancy Loss, Recurrent 1	Pregnancy Loss, Recurrent, Susceptibility To, 1 Rpl RPRGL1 Rprgl Recurrent Miscarriage Recurrent Spontaneous Abortion Abortion, Spontaneous, Recurrent Fetal Loss, Recurrent Fetal Loss, Recurrent, Susceptibility To Miscarriage, Recurrent Embryonic Loss, Recurrent Stillbirth, Recurrent Pregnancy Loss, Recurrent, 1 Recurrent Embryonic Loss Recurrent Fetal Loss Recurrent Stillbirth Spontaneous Recurrent Abortion Miscarriage Recurrent Pregnancy Loss, Recurrent, Susceptibility To, Type 1 Abortion, Habitual
Familial Short Qt Syndrome	Sqts Genetic Short Qt Syndrome
Ear Malformation	Cup Ear
Atrial Fibrillation	A-Fib Fibrillation, Atrial Af - [Atrial Fibrillation] Rapid Atrial Fibrillation A Fib - [Atrial Fibrillation]
Short Qt Syndrome	Sqts Familial Short Qt Syndrome
Polyhydramnios
Sudden Infant Death Syndrome	SIDS Sudden Infant Death Syndrome, Susceptibility To Cot Death Crib Death Sudden Death Of Nonspecific Cause In Infancy Sudden Infant Death Death, Sudden, Syndrome, Infant
Marfan Syndrome	MFS Mfs1 Marfan'S Syndrome Marfan Syndrome Type 1 Marfan Syndrome, Type I Mass Phenotype Contractural Arachnodactyly Mass Syndrome Octd Overlap Connective Tissue Disease Marfanoid Hypermobility Syndrome Marfan Disease
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Pattern Wpw Syndrome Anomalous Atrioventricular Excitation Anomalous A-V Excitation Ventricular Pre-Excitation With Arrhythmia WPWS Ventricular Familial Preexcitation Syndrome Preexcitation Syndrome Ventricular Preexcitation Wpw - [Wolff-Parkinson- White] Syndrome Pre-Excitation Syndrome
Syncope
Atrioventricular Block	Av Block
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
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Long Qt Syndrome 13	LQT13 Qt Syndrome, Long, Type 13
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
Long Qt Syndrome 3	LQT3 Long Qt Syndrome Type 3 Long Qt Syndrome-3 Qt Syndrome, Long, Type 3
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
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
Intrinsic Cardiomyopathy
Timothy Syndrome	Long Qt Syndrome With Syndactyly TS Lqt8 Long Qt Syndrome 8 Long Qt Syndrome Type 8 Long Qt Syndrome-Syndactyly Syndrome
Long Qt Syndrome 11	LQT11 Long Qt Syndrome-11 Qt Syndrome, Long, Type 11
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]
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
Rare Genetic Deafness	Rare Genetic Hearing Loss
Hypokalemia	Potassium Deficiency Potassium Deficiency Disorder Hypopotassemia Potassium Potassium [K] Deficiency Hypokalaemic Syndrome Hypopotassaemia Hypopotassaemia Syndrome Hypokalaemic Potassium Depletion
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
Diabetes Mellitus	Diabetes
Long Qt Syndrome 12	LQT12 Qt Syndrome, Long, Type 12
Benign Neonatal Seizures	Benign Neonatal Epilepsy Benign Familial Neonatal Seizures Benign Neonatal Convulsions Benign Familial Neonatal Convulsions Benign Familial Neonatal Epilepsy Bfne Bfns Seizures, Benign Neonatal Neonatal Convulsions Benign Epilepsy, Benign Neonatal Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion Familial Benign Neonatal Epilepsy
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Catecholaminergic Polymorphic Ventricular Tachycardia 4 CPVT4 Bidirectional Tachycardia Stress-Induced Polymorphic Ventricular Tachycardia Cvpt4 Double Tachycardia Induced By Catecholamines Malignant Paroxysmal Ventricular Tachycardia Multifocal Ventricular Premature Beats Paroxysmal Ventricular Fibrillation Syncopal Paroxysmal Tachycardia Syncopal Tachyarythmia Vtsip Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 4 Multifocal Pvcs Multifocal Premature Ventricular Beats Paroxysmal Familial Ventricular Fibrillation Ventricular Tachycardia, Catecholaminergic Polymorphic, 1
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
Long Qt Syndrome 9	LQT9 Long Qt Syndrome-9 Qt Syndrome, Long, Type 9
Long Qt Syndrome 14	LQT14 Long Qt Syndrome, Type 14
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
Sinoatrial Node Disease	Sa Node Sinuatrial Node Sinus Node Dysfunction
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	HH4 Kallmann Syndrome 4 Kal4 Hypogonadotropic Hypogonadism, Type 4 With/Without Anosmia
Cystic Fibrosis	Mucoviscidosis CF Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis Cystic Fibrosis Lung Disease, Modifier Of Cystic Fibrosis Of Pancreas Fibrocystic Disease Of Pancreas Cf - [Cystic Fibrosis] Cystic Fibrosis Nos Fibrocystic Disease Fibrocystic Disease Of The Pancreas Mucoviscidosis Of Pancreas Nonproliferative Fibrocystic Disease Pancreatic Cystic Fibrosis
Progressive Familial Heart Block	Hereditary Bundle Branch Defect Hereditary Bundle Branch System Defect Familial Lenegre Disease Familial Lev Disease Familial Lev-Lenegre Disease Familial Pccd Familial Progressive Heart Block Pfhb Bundle Branch Block Hbbd Lenegre Lev Disease Lev Syndrome Lev'S Disease Lev-Lenègre Disease Pccd Progressive Cardiac Conduction Defect Bundle-Branch Block
Benign Familial Neonatal Epilepsy	Familial Neonatal Seizures Bfns Benign Familial Neonatal Convulsions Benign Familial Neonatal Seizures Epilepsy Benign Neonatal Familial Familial Benign Neonatal Convulsions Benign Neonatal Familial Convulsions Familial Benign Neonatal Epilepsy Epilepsy, Benign Neonatal, 2 Benign Familial Convulsion
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Omphalocele	Omphalocoele Congenital Omphalocele Exomphalos Exumbilication
Cardiac Arrest	Cardiopulmonary Arrest Circulatory Arrest Heart Arrest
Gingival Fibromatosis	Hereditary Gingival Fibromatosis Hereditary Gingival Hyperplasia Autosomal Dominant Gingival Fibromatosis Autosomal Dominant Gingival Hyperplasia Fibromatosis, Gingival, Hereditary Fibromatosis, Gingival
Brugada Syndrome 4	BRGDA4 Brugada Syndrome, Type 4
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Image Syndrome IMAGE Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies Image Anomaly Image Association Fetal Growth Retardation Pyle Metaphyseal Dysplasia
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Spastic Paraplegia 17, Autosomal Dominant	Silver Syndrome SPG17 Silver Spastic Paraplegia Syndrome Spastic Paraplegia With Amyotrophy Of Hands And Feet Hereditary Spastic Paraplegia 17 Autosomal Dominant Spastic Paraplegia Type 17 Spastic Paraplegia 17 Spastic Paraplegia-Amyotrophy Of Hands And Feet Autosomal Dominant Spastic Paraplegia 17 Dhmn5b Distal Hereditary Motor Neuropathy Type 5b Paraplegia, Spastic, Autosomal Dominant, Type 17 Russell-Silver Syndrome Neuronopathy, Distal Hereditary Motor, Type Vb
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Noonan Syndrome With Multiple Lentigines	Leopard Syndrome Multiple Lentigines Syndrome Moynahan Syndrome Cardiomyopathic Lentiginosis Progressive Cardiomyopathic Lentiginosis Cardio-Cutaneous Syndrome Lentiginosis Profusa Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome Generalized Lentiginosis Gorlin Syndrome Ii Lentiginosis Profusa Syndrome Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes Diffuse Lentiginosis Nsml Familial Multiple Lentigines Syndrome Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type Progressive Cardiomyopathic Lentiginosis Syndrome Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan
Developmental And Epileptic Encephalopathy 14	Malignant Migrating Partial Seizures Of Infancy Eiee14 Epilepsy Of Infancy With Migrating Focal Seizures Mmpsi DEE14 Epileptic Encephalopathy, Early Infantile, 14 Early Infantile Epileptic Encephalopathy 14 Malignant Migrating Partial Epilepsy Of Infancy Migrating Partial Epilepsy Of Infancy Migrating Partial Seizures Of Infancy Mmpei Mpei Mpsi Malignant Migrating Focal Seizures Of Infancy Migrating Partial Seizures In Infancy Developmental And Epileptic Encephalopathy, 14 Encephalopathy, Epileptic, Early Infantile, Type 14
Deafness, Autosomal Recessive 98	DFNB98 Autosomal Recessive Nonsyndromic Deafness 98 Autosomal Recessive Deafness 98 Deafness, Autosomal Recessive, 98 Deafness, Autosomal Recessive, Type 98
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
Transient Neonatal Diabetes Mellitus	Diabetes Mellitus, Transient Neonatal Tndm Chromosome 6-Associated Transient Diabetes Mellitus Dmtn Diabetes Mellitus, 6q24-Related Transient Neonatal Tndm1 Neonatal Diabetes Mellitus, Transient Tndm -[Transient Neonatal Diabetes Mellitus]
Myocardial Infarction	Heart Attack Myocardial Infarction, Susceptibility To Myocardial Infarction 1 Myocardial Infarction, Protection Against Myocardial Infarction, Decreased Susceptibility To Myocardial Infarction, Decreased Myocardial Infarct MCI1 Premature Myocardial Infarction Myocardial Infarction, Susceptibility To, Type 1
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
Lipoprotein Quantitative Trait Locus	Coronary Artery Disease Coronary Artery Anomaly Coronary Artery Disease, Susceptibility To Myocardial Ischemia Congenital Anomaly Of Coronary Artery Coronary Arteriosclerosis Coronary Disease Coronary Heart Disease Coronary Artery Disorder LPAQTL Lpa Deficiency, Congenital Coronary Artery Abnormality Coronary Artery Anomaly, Congenital Chd Coronary Syndrome Congenital Malformations Of Coronary Vessels Malformation Of Coronary Vessels Congenital Coronary Artery Anomaly Congenital Coronary Artery Deformity Congenital Coronary Artery Disorder Abnormal Coronary Artery Congenital Coronary Artery Malposition Congenital Coronary Disease Congenital Anomaly Of Coronary Arteries
Maturity-Onset Diabetes Of The Young	MODY Maturity Onset Diabetes Mellitus In Young Mason-Type Diabetes Mason Type Diabetes Maturity Onset Diabetes Of The Young Mody Syndrome Diabetes Of The Young, Maturity-Onset
Arrhythmogenic Right Ventricular Cardiomyopathy	Arrhythmogenic Right Ventricular Dysplasia Arvc Arvd Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Arvc Cardiomyopathy Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia Arvd/C Right Ventricular Dysplasia, Arrhythmogenic Ventricular Dysplasia, Right, Arrhythmogenic Cardiomyopathy, Ventricular, Right, Arrhythmogenic Dysplasia, Arrhythmogenic Right Ventricular
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
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
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
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
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor

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 (19)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-108577	XE991 dihydrochloride	Inhibitor	/	Unkown
HY-12343	ML277	Activator	98.46%	Unkown
HY-108577A	XE991	Inhibitor	99.69%	Unkown
HY-108591	L-364,373	Activator	99.65%	Unkown
HY-18063	ML252	Inhibitor	99.9%	Unkown
HY-108587	ICA 110381	Modulator	99.80%	Unkown
HY-108592	UCL 2077	Inhibitor	98.91%	Unkown
HY-145992	KCNQ1 activator-1	Activator	99.03%	Unkown
HY-18063A	ML252 hydrochloride	Inhibitor	98.5%	Unkown
HY-117174	L-735821	Inhibitor	/	Unkown
HY-121520	Docosahexaenoyl glycine	Activator	/	Unkown
HY-122504	Linoleoyl glycine	Inhibitor	/	Unkown
HY-179065	VU0494372	Activator	/	Unkown
HY-183323	MmpL3-IN-6		/	Unkown
HY-184207	Zinc13732787	Inhibitor	/	Unkown
HY-RS07173	KCNQ1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-121977	IKs124	Inhibitor	/	Unkown
HY-RS18286	Kcnq1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24764	Kcnq1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	KCNQ1	VGNC	VGNC:106792
Rattus norvegicus	KCNQ1	RGD	RGD:621503
Canis familiaris	KCNQ1	VGNC	VGNC:51877
Mus musculus	KCNQ1	MGD	MGI:108083
Felis catus	KCNQ1	VGNC	VGNC:82040
Macaca mulatta	KCNQ1	VGNC	VGNC:82168
Others	KCNQ1	NCBI