KCNH2 - potassium voltage-gated channel subfamily H member 2 Gene

Also Known as ERG1; HERG; LQT2; SQT1; ERG-1; H-ERG; HERG1; Kv11.1

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 3757

About KCNH2

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:150,944,961-150,978,321 (from NCBI)

This gene has 8 transcripts (splice variants), 255 orthologues, 17 paralogues and is associated with 6 phenotypes. Broad expression in bone marrow (RPKM 13.5), testis (RPKM 10.7) and 14 other tissues.

Summary

This gene encodes a component of a voltage-activated Potassium Channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to form a functional Potassium Channel. Mutations in this gene can cause long QT syndrome type 2 (LQT2). Transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, May 2022]

KCNH2 Products (16)

mRNA	Protein	Name
NM_172057.3	NP_742054.1	potassium voltage-gated channel subfamily H member 2 isoform c
NM_001406753.1	NP_001393682.1	potassium voltage-gated channel subfamily H member 2 isoform e
NM_001406755.1	NP_001393684.1	potassium voltage-gated channel subfamily H member 2 isoform f
NM_001204798.2	NP_001191727.1	potassium voltage-gated channel subfamily H member 2 isoform d
NM_001406756.1	NP_001393685.1	potassium voltage-gated channel subfamily H member 2 isoform g
NM_000238.4	NP_000229.1	potassium voltage-gated channel subfamily H member 2 isoform a
NM_172056.3	NP_742053.1	potassium voltage-gated channel subfamily H member 2 isoform b
NM_001406757.1	NP_001393686.1	potassium voltage-gated channel subfamily H member 2 isoform h
NM_000238.4	NP_000229.1	potassium voltage-gated channel subfamily H member 2 isoform a
NM_001204798.2	NP_001191727.1	potassium voltage-gated channel subfamily H member 2 isoform d
NM_001406753.1	NP_001393682.1	potassium voltage-gated channel subfamily H member 2 isoform e
NM_001406755.1	NP_001393684.1	potassium voltage-gated channel subfamily H member 2 isoform f
NM_001406756.1	NP_001393685.1	potassium voltage-gated channel subfamily H member 2 isoform g
NM_001406757.1	NP_001393686.1	potassium voltage-gated channel subfamily H member 2 isoform h
NM_172056.3	NP_742053.1	potassium voltage-gated channel subfamily H member 2 isoform b
NM_172057.3	NP_742054.1	potassium voltage-gated channel subfamily H member 2 isoform c

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables delayed rectifier potassium channel activity	IDA IDA: Inferred from direct assay	7736582	GOA
enables delayed rectifier potassium channel activity	IGI IGI: Inferred from genetic interaction	25281747	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	8995352	GOA
NOT enables inward rectifier potassium channel activity	IDA IDA: Inferred from direct assay	9765245	GOA
enables inward rectifier potassium channel activity	IDA IDA: Inferred from direct assay	7604285	GOA
enables inward rectifier potassium channel activity	IMP IMP: Inferred from mutant phenotype	14525949	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	9230439	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	8995352	GOA
enables scaffold protein binding	IPI IPI: Inferred from physical interaction	18923542	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	31146003	GOA
enables ubiquitin protein ligase binding	IPI IPI: Inferred from physical interaction	21463633	GOA
enables voltage-gated potassium channel activity	IDA IDA: Inferred from direct assay	11953308	GOA
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP IMP: Inferred from mutant phenotype	21536673	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cardiac muscle contraction	IMP IMP: Inferred from mutant phenotype	21536673	GOA
involved in cellular response to xenobiotic stimulus	IDA IDA: Inferred from direct assay	7604285	GOA
involved in membrane depolarization during action potential	IDA IDA: Inferred from direct assay	7604285	GOA
involved in membrane repolarization	IMP IMP: Inferred from mutant phenotype	14525949	GOA
involved in membrane repolarization during action potential	IDA IDA: Inferred from direct assay	7736582	GOA
involved in membrane repolarization during cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	21536673	GOA
involved in membrane repolarization during ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	21536673	GOA
involved in negative regulation of potassium ion export across plasma membrane	IDA IDA: Inferred from direct assay	7604285	GOA
involved in negative regulation of potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	7604285	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	31146003	GOA
involved in positive regulation of potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	7736582	GOA
involved in potassium ion export across plasma membrane	IDA IDA: Inferred from direct assay	7604285	GOA
involved in potassium ion export across plasma membrane	IGI IGI: Inferred from genetic interaction	25281747	GOA
involved in potassium ion homeostasis	IDA IDA: Inferred from direct assay	7604285	GOA
involved in potassium ion import across plasma membrane	IDA IDA: Inferred from direct assay	7604285	GOA
involved in potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	7604285	GOA
involved in potassium ion transport	IDA IDA: Inferred from direct assay	9230439	GOA
acts upstream of or within regulation of heart rate by cardiac conduction	IMP IMP: Inferred from mutant phenotype	7889573	GOA
involved in regulation of heart rate by cardiac conduction	IMP IMP: Inferred from mutant phenotype	21536673	GOA
involved in regulation of membrane potential	IDA IDA: Inferred from direct assay	8587608	GOA
involved in regulation of membrane repolarization	IDA IDA: Inferred from direct assay	7736582	GOA
involved in regulation of potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	11953308	GOA
involved in regulation of ventricular cardiac muscle cell membrane repolarization	IMP IMP: Inferred from mutant phenotype	21536673	GOA
involved in ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	21536673	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in cell surface	IDA IDA: Inferred from direct assay	21536673	GOA
part of inward rectifier potassium channel complex	IMP IMP: Inferred from mutant phenotype	14525949	GOA
located in perinuclear region of cytoplasm	IMP IMP: Inferred from mutant phenotype	25281747	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	21463633	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	25281747	GOA
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	7604285	GOA
part of voltage-gated potassium channel complex	IMP IMP: Inferred from mutant phenotype	25281747	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

KCNH2 Protein Structure

PAS_9

Ion_trans

CAP_ED

0
200
400
600
800
1000
1159 a.a.

Protein Preferred Names	Protein Names
potassium voltage-gated channel subfamily H member 2	eag homolog

KCNH2 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	KCNH2	Q12809	CAV1	Homo sapiens	Q03135	Y2H	18923542
Intra	KCNH2	Q12809	CAV1	Homo sapiens	Q03135	Confocal	18923542
Intra	KCNH2	Q12809	MIB2	Homo sapiens	Q96AX9	Anti Tag CoIP	33961781
Intra	KCNH2	Q12809	JPH1	Homo sapiens	Q9HDC5	Anti Tag CoIP	33961781
Intra	KCNH2	Q12809	KLHDC10	Homo sapiens	Q6PID8	Anti Tag CoIP	33961781
Intra	KCNH2	Q12809	RMND1	Homo sapiens	Q9NWS8	Anti Tag CoIP	33961781
Intra	KCNH2	Q12809	KCNH2	Homo sapiens	Q12809	Crosslink	8995352
Intra	KCNH2	Q12809	SMAD5	Homo sapiens	Q99717	Anti Tag CoIP	33961781
Intra	KCNH2	Q12809	KCNH2	Homo sapiens	Q12809	GMS	8995352
Intra	KCNH2	Q12809	KCNH7	Homo sapiens	Q9NS40	Anti Tag CoIP	33961781
Intra	KCNH2	Q12809	ANKRD13D	Homo sapiens	Q6ZTN6	Anti Tag CoIP	33961781
Intra	KCNH2	Q12809	CDC73	Homo sapiens	Q6P1J9	Y2H Pooling	16169070
Intra	KCNH2	Q12809	NDUFS6	Homo sapiens	O75380	Y2H Pooling	16169070
Intra	KCNH2	Q12809	KCNH2	Homo sapiens	Q12809	NMR	24931372

Cross: Cross-species interaction Intra: Intraspecies interaction

KCNH2 抗体

製品番号	製品名	アプリケーション	反応性
HY-P811227	Kv11.1 Antibody	WB, IHC-P	Human, Mouse

関連疾患

Diseases	Alias
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
Short Qt Syndrome 1	SQT1 Short Qt Syndrome Type 1 Short Qt Syndrome-1
Long Qt Syndrome	Romano-Ward Syndrome Long Q-T Syndrome Lqt Qt Syndrome, Long Congenital Long Qt Syndrome Familial Long Qt Syndrome
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
Familial Long Qt Syndrome	Congenital Long Qt Syndrome Lqts
Familial Short Qt Syndrome	Sqts Genetic Short Qt Syndrome
Short Qt Syndrome	Sqts Familial Short Qt Syndrome
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
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]
Atrioventricular Block	Av Block
Syncope
Gastroparesis	Gastroparesis Syndrome Delayed Gastric Emptying Gastric Atonia Gastroparalysis
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
Hypokalemia	Potassium Deficiency Potassium Deficiency Disorder Hypopotassemia Potassium Potassium [K] Deficiency Hypokalaemic Syndrome Hypopotassaemia Hypopotassaemia Syndrome Hypokalaemic Potassium Depletion
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
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
Long Qt Syndrome 3	LQT3 Long Qt Syndrome Type 3 Long Qt Syndrome-3 Qt Syndrome, Long, Type 3
Body Mass Index Quantitative Trait Locus 11	OBESITY Obesity, Susceptibility To Leanness, Inherited Obesity, Susceptibility To, Bmiq11 Obesity, Mild, Early-Onset Obesity, Association With Obesity, Early-Onset, Susceptibility To Obesity, Severe Obesity, Severe, And Type Ii Diabetes Obesity, Late-Onset Obesity , Susceptibility To BMIQ11 Obesity Bmiq11 Obesity, Early-Onset Simple Obesity Nos Excess Fat Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified Adiposis
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
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
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
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
Atrial Fibrillation	A-Fib Fibrillation, Atrial Af - [Atrial Fibrillation] Rapid Atrial Fibrillation A Fib - [Atrial Fibrillation]
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
Intrinsic Cardiomyopathy
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
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 14	LQT14 Long Qt Syndrome, Type 14
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
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Cardiac Arrest	Cardiopulmonary Arrest Circulatory Arrest Heart Arrest
Long Qt Syndrome 12	LQT12 Qt Syndrome, Long, Type 12
First-Degree Atrioventricular Block	First Degree Atrioventricular Block First Degree Heart Block Incomplete Atrioventricular Block, First Degree First Degree Atrioventricular Heart Block
Heart Conduction Disease	Conduction Disorder Of The Heart Heart Rhythm Disease
Long Qt Syndrome 9	LQT9 Long Qt Syndrome-9 Qt Syndrome, Long, Type 9
Long Qt Syndrome 15	LQT15 Long Qt Syndrome, Type 15
Sinoatrial Node Disease	Sa Node Sinuatrial Node Sinus Node Dysfunction
Tetralogy Of Fallot	TOF Fallot Tetralogy Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle Tetrad Of Fallot Fallot Tetrad Fallot Disease Fallot Complex Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle Interventricular Septal Defect, In Tetralogy Of Fallot Ventricular Septal Defect With Obstructed Right Ventricular Outflow Tof - [Tetralogy Of Fallot] Pulmonary Atresia With Ventricular Septal Defect [Fallot Type] Pulmonary Atresia, Ventricular Septal Defect And Mapcas Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]
Schizophrenia 16	SCZD16 Schizophrenia Susceptibility Locus, Chromosome 7q36.3-Related Chromosome 7q36.3 Duplication Syndrome, 362-Kb
Third-Degree Atrioventricular Block	Third Degree Atrioventricular Block Complete Atrioventricular Block Complete Av Block Third-Degree Block Complete Atrioventricular Heart Block Complete Heart Block Third Degree Atrioventricular Heart Block Third Degree Heart Block Complete Heart Block Nos Chb - [Complete Heart Block] Idioventricular Rhythm Av - [Atrioventricular] Block, Complete
Right Bundle Branch Block	Right Bundle Branch Block With Left Posterior Fascicular Block
Second-Degree Atrioventricular Block	Second-Degree Heart Block Second Degree Atrioventricular Block Second Degree Atrioventricular Heart Block Second Degree Heart Block Incomplete Atrioventricular Block, Second Degree Nos Second-Degree Block, Type 1 And 2 Atrioventricular Block, Type 1 And 2 Second Degree Incomplete Atrioventricular Block Av - [Atrioventricular] Block 2nd
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
Brugada Syndrome 4	BRGDA4 Brugada Syndrome, Type 4
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
Trichothiodystrophy 7, Nonphotosensitive	TTD7 Nonphotosensitive Trichothiodystrophy 7 Trichothiodystrophy 7, Non-Photosensitive
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
Diamond-Blackfan Anemia 3	DBA3 Anemia, Diamond-Blackfan, 3 Rps24-Related Diamond-Blackfan Anemia Anemia Diamond-Blackfan 3 Anemia, Diamond-Blackfan, Type 3
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
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
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
Cardiovascular System Disease	Abnormality Of The Cardiovascular System Cardiovascular Disease Disease Of Subdivision Of Hemolymphoid System Disorder Of Cardiovascular System Cardiovascular Diseases
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
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
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
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

Approval
Pre-clinical Phase

Approval

Bioactive Molecules (2)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-B0437	Sotalol hydrochloride		99.93%	Unkown
HY-103196	Sotalol	Inhibitor	/	Unkown

Pre-clinical Phase

Bioactive Molecules (7)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-16697	CID 16020046	Antagonist	99.81%	Unkown
HY-N0267	Hypaconitine		99.49%	Unkown
HY-B0437AS	Sotalol-d6 hydrochloride		98.98%	Unkown
HY-B0437S	Sotalol-d6	Inhibitor	/	Unkown
HY-RS07126	KCNH2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS16857	Kcnh2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23298	Kcnh2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Bos taurus	KCNH2	VGNC	VGNC:96697
Rattus norvegicus	KCNH2	RGD	RGD:621414
Felis catus	KCNH2	VGNC	VGNC:67907
Macaca mulatta	KCNH2	VGNC	VGNC:73980
Canis familiaris	KCNH2	VGNC	VGNC:42248
Mus musculus	KCNH2	MGD	MGI:1341722
Others	KCNH2	NCBI