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

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

中文名称:钾电压门控通道亚家族 H 成员 2

种属: Homo sapiens

同用名: ERG1; HERG; LQT2; SQT1; ERG-1; H-ERG; HERG1; Kv11.1

基因 ID: 3757 | 基因类型: protein coding

关于 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.

功能概要

该基因编码在心肌、神经细胞和小胶质细胞中发现的电压激活钾通道的一个成分。该蛋白的四个拷贝与 KCNE2 蛋白的一个拷贝相互作用,形成功能性钾通道。该基因的突变可导致 2 型长 QT 综合征 (LQT2) 。已经识别出编码不同亚型的转录变体。[RefSeq 提供,2022 年 5 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables delayed rectifier potassium channel activity IDA
IDA: 通过直接分析推断
7736582 GOA
enables delayed rectifier potassium channel activity IGI
IGI: 通过遗传相互作用推断
25281747 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
8995352 GOA
NOT enables inward rectifier potassium channel activity IDA
IDA: 通过直接分析推断
9765245 GOA
enables inward rectifier potassium channel activity IDA
IDA: 通过直接分析推断
7604285 GOA
enables inward rectifier potassium channel activity IMP
IMP: 通过突变表型推断
14525949 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9230439 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
8995352 GOA
enables scaffold protein binding IPI
IPI: 通过物理相互作用推断
18923542 GOA
enables transcription cis-regulatory region binding IDA
IDA: 通过直接分析推断
31146003 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
21463633 GOA
enables voltage-gated potassium channel activity IDA
IDA: 通过直接分析推断
11953308 GOA
enables voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization IMP
IMP: 通过突变表型推断
21536673 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cardiac muscle contraction IMP
IMP: 通过突变表型推断
21536673 GOA
involved in cellular response to xenobiotic stimulus IDA
IDA: 通过直接分析推断
7604285 GOA
involved in membrane depolarization during action potential IDA
IDA: 通过直接分析推断
7604285 GOA
involved in membrane repolarization IMP
IMP: 通过突变表型推断
14525949 GOA
involved in membrane repolarization during action potential IDA
IDA: 通过直接分析推断
7736582 GOA
involved in membrane repolarization during cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
21536673 GOA
involved in membrane repolarization during ventricular cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
21536673 GOA
involved in negative regulation of potassium ion export across plasma membrane IDA
IDA: 通过直接分析推断
7604285 GOA
involved in negative regulation of potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
7604285 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
31146003 GOA
involved in positive regulation of potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
7736582 GOA
involved in potassium ion export across plasma membrane IDA
IDA: 通过直接分析推断
7604285 GOA
involved in potassium ion export across plasma membrane IGI
IGI: 通过遗传相互作用推断
25281747 GOA
involved in potassium ion homeostasis IDA
IDA: 通过直接分析推断
7604285 GOA
involved in potassium ion import across plasma membrane IDA
IDA: 通过直接分析推断
7604285 GOA
involved in potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
7604285 GOA
involved in potassium ion transport IDA
IDA: 通过直接分析推断
9230439 GOA
acts upstream of or within regulation of heart rate by cardiac conduction IMP
IMP: 通过突变表型推断
7889573 GOA
involved in regulation of heart rate by cardiac conduction IMP
IMP: 通过突变表型推断
21536673 GOA
involved in regulation of membrane potential IDA
IDA: 通过直接分析推断
8587608 GOA
involved in regulation of membrane repolarization IDA
IDA: 通过直接分析推断
7736582 GOA
involved in regulation of potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
11953308 GOA
involved in regulation of ventricular cardiac muscle cell membrane repolarization IMP
IMP: 通过突变表型推断
21536673 GOA
involved in ventricular cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
21536673 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
21536673 GOA
part of inward rectifier potassium channel complex IMP
IMP: 通过突变表型推断
14525949 GOA
located in perinuclear region of cytoplasm IMP
IMP: 通过突变表型推断
25281747 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
21463633 GOA
located in plasma membrane IMP
IMP: 通过突变表型推断
25281747 GOA
part of voltage-gated potassium channel complex IDA
IDA: 通过直接分析推断
7604285 GOA
part of voltage-gated potassium channel complex IMP
IMP: 通过突变表型推断
25281747 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KCNH2 蛋白结构

PAS_9

PAS_9: pfam13426 (28 - 129)

Ion_trans

Ion_trans: pfam00520 (408 - 667)

CAP_ED

CAP_ED: cd00038 (741 - 852)

  • 0
  • 200
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  • 800
  • 1000
  • 1159 a.a.
蛋白主名 其他名称

potassium voltage-gated channel subfamily H member 2

eag homolog

KCNH2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
KCNH2 Q12809 CAV1 Homo sapiens Q03135
Y2H
18923542
种属内
KCNH2 Q12809 CAV1 Homo sapiens Q03135 18923542
种属内
KCNH2 Q12809 MIB2 Homo sapiens Q96AX9 33961781
种属内
KCNH2 Q12809 JPH1 Homo sapiens Q9HDC5 33961781
种属内
KCNH2 Q12809 KLHDC10 Homo sapiens Q6PID8 33961781
种属内
KCNH2 Q12809 RMND1 Homo sapiens Q9NWS8 33961781
种属内
KCNH2 Q12809 KCNH2 Homo sapiens Q12809 8995352
种属内
KCNH2 Q12809 SMAD5 Homo sapiens Q99717 33961781
种属内
KCNH2 Q12809 KCNH2 Homo sapiens Q12809
GMS
8995352
种属内
KCNH2 Q12809 KCNH7 Homo sapiens Q9NS40 33961781
种属内
KCNH2 Q12809 ANKRD13D Homo sapiens Q6ZTN6 33961781
种属内
KCNH2 Q12809 CDC73 Homo sapiens Q6P1J9 16169070
种属内
KCNH2 Q12809 NDUFS6 Homo sapiens O75380 16169070
种属内
KCNH2 Q12809 KCNH2 Homo sapiens Q12809
NMR
24931372
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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