1. Gene
  2. RYR2 - ryanodine receptor 2 Gene

RYR2 - ryanodine receptor 2 Gene

中文名称:兰尼碱受体 2

种属: Homo sapiens

同用名: RyR; ARVC2; ARVD2; RYR-2; VTSIP; VACRDS

基因 ID: 6262 | 基因类型: protein coding

关于 RYR2

Cytogenetic location: 1q43 Genomic coordinates (GRCh38): 1:237,042,184-237,833,988 (from NCBI)

This gene has 8 transcripts (splice variants), 262 orthologues, 5 paralogues and is associated with 9 phenotypes. Biased expression in heart (RPKM 47.0) and brain (RPKM 4.2).

功能概要

该基因编码在心肌肌浆网中发现的兰尼碱受体。编码的蛋白质是钙通道的成分之一,由兰尼碱受体蛋白的四聚体和 FK506 结合蛋白 1B 蛋白的四聚体组成,为心肌提供钙。该基因的突变与应激诱导的多形性室性心动过速和致心律失常性右心室发育不良有关。[RefSeq 提供,2008 年 7 月]

This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a Calcium Channel, composed of a tetramer of the ryanodine Receptor Proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008]

RYR2 基因产物(1)

mRNA Protein Name
NM_001035.3 NP_001026.2 ryanodine receptor 2
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 calcium-induced calcium release activity IDA
IDA: 通过直接分析推断
17921453 GOA
enables calmodulin binding IDA
IDA: 通过直接分析推断
22067155 GOA
enables calmodulin binding IMP
IMP: 通过突变表型推断
19220289 GOA
enables calmodulin binding IPI
IPI: 通过物理相互作用推断
23040497 GOA
enables enzyme binding IPI
IPI: 通过物理相互作用推断
16213210 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
10830164 GOA
enables intracellularly gated calcium channel activity IDA
IDA: 通过直接分析推断
17921453 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10830164 GOA
enables protein kinase A catalytic subunit binding IDA
IDA: 通过直接分析推断
10830164 GOA
enables protein kinase A regulatory subunit binding IDA
IDA: 通过直接分析推断
10830164 GOA
enables ryanodine-sensitive calcium-release channel activity IDA
IDA: 通过直接分析推断
12443530 GOA
enables suramin binding IMP
IMP: 通过突变表型推断
19220289 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in calcium ion transport IDA
IDA: 通过直接分析推断
17921453 GOA
involved in calcium ion transport into cytosol IDA
IDA: 通过直接分析推断
17921453 GOA
involved in calcium-mediated signaling IDA
IDA: 通过直接分析推断
17921453 GOA
involved in cardiac muscle contraction IMP
IMP: 通过突变表型推断
10830164 GOA
involved in cellular response to caffeine IDA
IDA: 通过直接分析推断
12919952 GOA
involved in detection of calcium ion IDA
IDA: 通过直接分析推断
10830164 GOA
involved in establishment of protein localization to endoplasmic reticulum IDA
IDA: 通过直接分析推断
12443530 GOA
involved in positive regulation of sequestering of calcium ion IDA
IDA: 通过直接分析推断
12443530 GOA
involved in positive regulation of the force of heart contraction IMP
IMP: 通过突变表型推断
15105296 GOA
involved in regulation of AV node cell action potential IMP
IMP: 通过突变表型推断
17875969 GOA
involved in regulation of SA node cell action potential IMP
IMP: 通过突变表型推断
17875969 GOA
involved in regulation of atrial cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
17875969 GOA
involved in regulation of cardiac muscle contraction IMP
IMP: 通过突变表型推断
11159936 GOA
involved in regulation of cardiac muscle contraction by calcium ion signaling IMP
IMP: 通过突变表型推断
17875969 GOA
involved in regulation of heart rate IMP
IMP: 通过突变表型推断
11159936 GOA
involved in regulation of ventricular cardiac muscle cell action potential IMP
IMP: 通过突变表型推断
17875969 GOA
involved in release of sequestered calcium ion into cytosol IDA
IDA: 通过直接分析推断
12443530 GOA
involved in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IDA
IDA: 通过直接分析推断
27733687 GOA
involved in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IMP
IMP: 通过突变表型推断
12919952 GOA
involved in response to caffeine IDA
IDA: 通过直接分析推断
17921453 GOA
involved in response to muscle activity IMP
IMP: 通过突变表型推断
17875969 GOA
involved in response to muscle stretch IMP
IMP: 通过突变表型推断
15105296 GOA
involved in response to redox state IDA
IDA: 通过直接分析推断
19226252 GOA
involved in type B pancreatic cell apoptotic process IMP
IMP: 通过突变表型推断
15044459 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Z disc IDA
IDA: 通过直接分析推断
19131648 GOA
part of calcium channel complex IDA
IDA: 通过直接分析推断
10830164 GOA
located in membrane IDA
IDA: 通过直接分析推断
12443530 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
18468998 GOA
located in sarcoplasmic reticulum IDA
IDA: 通过直接分析推断
10830164 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

RYR2 蛋白结构

Ins145_P3_rec

Ins145_P3_rec: Inositol 1,4,5-trisphosphate/ryanodine receptor (10 - 222)

MIR

MIR: MIR domain (226 - 399)

RYDR_ITPR

RYDR_ITPR: RIH domain (452 - 655)

SPRY

SPRY: SPRY domain (671 - 808)

RyR

RyR: RyR domain (862 - 953)

RyR

RyR: RyR domain (975 - 1068)

SPRY

SPRY: SPRY domain (1099 - 1219)

SPRY

SPRY: SPRY domain (1424 - 1559)

RYDR_ITPR

RYDR_ITPR: RIH domain (2123 - 2331)

RyR

RyR: RyR domain (2700 - 2793)

RyR

RyR: RyR domain (2820 - 2905)

RIH_assoc

RIH_assoc: RyR and IP3R Homology associated (3827 - 3948)

RR_TM4-6

RR_TM4-6: Ryanodine Receptor TM 4-6 (4333 - 4599)

Ion_trans

Ion_trans: Ion transport protein (4731 - 4866)

  • 0
  • 800
  • 1600
  • 2400
  • 3200
  • 4000
  • 4967 a.a.
蛋白主名 其他名称

ryanodine receptor 2

cardiac muscle ryanodine receptor-calcium release channel

RYR2 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
RYR2 Q92736 MDM2 Homo sapiens Q00987
TAP
20195357
种属内
RYR2 Q92736 FKBP1B Homo sapiens P68106 11237759
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
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2

Arrhythmogenic Right Ventricular Dysplasia 2

ARVD2

Arrhythmogenic Right Ventricular Cardiomyopathy 2

Arvc2

Familial Arrhythmogenic Right Ventricular Dysplasia 2

Dysplasia, Arrhythmogenic Right Ventricular, Type 2

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy

Catecholaminergic Polymorphic Ventricular Tachycardia 1

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

CPVT1

Ventricular Tachycardia, Stress-Induced Polymorphic

Vtsip

Bidirectional Tachycardia

Stress-Induced Polymorphic Ventricular Tachycardia

Cvpt1

Double Tachycardia Induced By Catecholamines

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Paroxysmal Ventricular Fibrillation

Syncopal Paroxysmal Tachycardia

Syncopal Tachyarythmia

Ventricular Tachycardia Catecholaminergic Polymorphic 1

Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 1

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Paroxysmal Familial Ventricular Fibrillation

Catecholaminergic Polymorphic Ventricular Tachycardia Type 1

Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome

VACRDS

Ryr2 Calcium Release Deficiency 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

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

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Biventricular Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Left Dominant Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Classic Form

Familial Isolated Arrhythmogenic Ventricular Cardiomyopathy, Right Dominant Form

Familial Isolated Arrhythmogenic Ventricular Dysplasia, Classic Form

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

Ventricular Tachycardia, Catecholaminergic Polymorphic, 2

Catecholaminergic Polymorphic Ventricular Tachycardia 2

CPVT2

Vtsip

Bidirectional Tachycardia

Stress-Induced Polymorphic Ventricular Tachycardia

Ventricular Tachycardia, Stress-Induced Polymorphic

Cvpt2

Double Tachycardia Induced By Catecholamines

Malignant Paroxysmal Ventricular Tachycardia

Multifocal Ventricular Premature Beats

Paroxysmal Ventricular Fibrillation

Syncopal Paroxysmal Tachycardia

Syncopal Tachyarythmia

Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 2

Ventricular Tachycardia, Catecholaminergic Polymorphic, 1

Multifocal Pvcs

Multifocal Premature Ventricular Beats

Paroxysmal Familial Ventricular Fibrillation

Heart Conduction Disease

Conduction Disorder Of The Heart

Heart Rhythm Disease

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

Long Qt Syndrome

Romano-Ward Syndrome

Long Q-T Syndrome

Lqt

Qt Syndrome, Long

Congenital Long Qt Syndrome

Familial Long Qt Syndrome

Cardiac Arrest

Cardiopulmonary Arrest

Circulatory Arrest

Heart Arrest

Central Core Disease Of Muscle

Central Core Disease

Central Core Myopathy

CCD

Cco

Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber

Myopathy, Central Core

Shy-Magee Syndrome

Muscle Core Disease

Muscular Central Core Disease

Myopathy, Central Fibrillar

Shy'S Disease

Moderate Multiminicore Disease With Hand Involvement

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

Ventricular Tachycardia, Familial

Familial Ventricular Tachycardia

Ventricular Tachycardia, Familial Polymorphic

Ventricular Tachycardia, Idiopathic

Childhood-Onset Schizophrenia

Childhood Schizophrenia

Schizophrenia, Childhood

Malignant Hyperthermia

Anesthesia Related Hyperthermia

Malignant Hyperpyrexia Due To Anesthesia

Hyperpyrexia, Malignant

Hyperthermia, Malignant

Malignant Hyperpyrexia

Mhs

Malignant Fever

Atrial Fibrillation

A-Fib

Fibrillation, Atrial

Af - [Atrial Fibrillation]

Rapid Atrial Fibrillation

A Fib - [Atrial Fibrillation]

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

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

Syncope
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8

Arrhythmogenic Right Ventricular Dysplasia 8

ARVD8

Arrhythmogenic Right Ventricular Cardiomyopathy 8

Arvc8

Familial Arrhythmogenic Right Ventricular Dysplasia 8

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 8

Arrhythmogenic Right Ventricular Dysplasia, Familial, 6

Arrhythmogenic Right Ventricular Dysplasia 6

ARVD6

Arrhythmogenic Right Ventricular Cardiomyopathy 6

Arvc6

Familial Arrhythmogenic Right Ventricular Dysplasia 6

Arrhythmogenic Right Ventricular Dysplasia-6

Arrhythmogenic Right Ventricular Dysplasia, Familial, 9

Arrhythmogenic Right Ventricular Dysplasia 9

ARVD9

Arrhythmogenic Right Ventricular Cardiomyopathy 9

Arvc9

Familial Arrhythmogenic Right Ventricular Dysplasia 9

Dysplasia, Arrhythmogenic Right Ventricular, Type 9

Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

Arrhythmogenic Right Ventricular Dysplasia 4

ARVD4

Arrhythmogenic Right Ventricular Cardiomyopathy 4

Arvc4

Familial Arrhythmogenic Right Ventricular Dysplasia 4

Arrhythmogenic Right Ventricular Dysplasia-4

Ventricular Tachycardia, Catecholaminergic Polymorphic, 3

Catecholaminergic Polymorphic Ventricular Tachycardia 3

CPVT3

Cvpt3

Tachycardia, Ventricular, Catecholaminergic Polymorphic, Type 3

Sinoatrial Node Disease

Sa Node

Sinuatrial Node

Sinus Node Dysfunction

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

Sqts

Familial Short Qt Syndrome

Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma

Carvajal Syndrome

Palmoplantar Keratoderma With Left Ventricular Cardiomyopathy And Woolly Hair

DCWHK

Dilated Cardiomyopathy With Woolly Hair And Keratoderma

Cardiomyopathy Dilated With Woolly Hair And Keratoderma

Kwwh Type Ii

Keratoderma With Woolly Hair Type Ii

Woolly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome

Woolly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome

Wooly Hair-Palmoplantar Hyperkeratosis-Dilated Cardiomyopathy Syndrome

Wooly Hair-Palmoplantar Keratoderma-Dilated Cardiomyopathy Syndrome

Epidermolytic Palmoplantar Keratoderma Woolly Hair And Dilated Cardiomyopathy

Wooly Hair - Palmoplantar Keratoderma - Dilated Cardiomyopathy

Cardiomyopathy, Dilated With Woolly Hair And Keratoderma

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11

Arrhythmogenic Right Ventricular Dysplasia 11

ARVD11

Arrhythmogenic Right Ventricular Cardiomyopathy 11

Arvc11

Arrhythmogenic Right Ventricular Dysplasia 11 With Mild Palmoplantar Keratoderma And Woolly Hair

Arrhythmogenic Right Ventricular Dysplasia, Familial, 11, With Mild Palmoplantar Keratoderma And Woolly Hair

Familial Arrhythmogenic Right Ventricular Dysplasia 11

Arrhythmogenic Right Ventricular Dysplasia 11, Familial, And Mild Palmoplantar Keratoderma And Woolly Hair

ARVD11PK

Arvd And Mild Palmoplantar Keratoderma With Or Without Woolly Hair

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 11

Intrinsic Cardiomyopathy
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

Long Qt Syndrome 3

LQT3

Long Qt Syndrome Type 3

Long Qt Syndrome-3

Qt Syndrome, Long, Type 3

Timothy Syndrome

Long Qt Syndrome With Syndactyly

TS

Lqt8

Long Qt Syndrome 8

Long Qt Syndrome Type 8

Long Qt Syndrome-Syndactyly Syndrome

Naxos Disease

Mal De Naxos

NXD

Cardiomyopathy, Arrhythmogenic Right Ventricular, With Skin, Hair, And Nail Abnormalities

Woolly Hair, Palmoplantar Keratoderma, And Cardiac Abnormalities

Palmoplantar Keratoderma With Arrhythmogenic Right Ventricular Cardiomyopathy And Woolly Hair

Keratosis Palmoplantaris With Arrythmogenic Cardiomyopathy

Keratosis Palmoplantaris With Arrhythmogenic Cardiomyopathy

Keratosis Palmoplantaris Arrythmogenic Cardiomyopathy Woolly Hair

Woolly Hair Palmoplantar Keratoderma Cardiac Abnormalities

Kwwh Type I

Keratoderma With Woolly Hair Type I

Palmoplantar Hyperkeratosis With Arrythmogenic Cardiomyopathy

Palmoplantar Keratoderma With Arrythmogenic Cardiomyopathy

Arrhythmogenic Right Ventricular Dysplasia, Familial, 5

Arrhythmogenic Right Ventricular Dysplasia 5

ARVD5

Arrhythmogenic Right Ventricular Cardiomyopathy 5

Arvc5

Familial Arrhythmogenic Right Ventricular Dysplasia 5

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 5

Arrhythmogenic Right Ventricular Dysplasia, Familial, 12

Arrhythmogenic Right Ventricular Dysplasia 12

ARVD12

Arrhythmogenic Right Ventricular Cardiomyopathy 12

Arvc12

Familial Arrhythmogenic Right Ventricular Dysplasia 12

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 12

Arrhythmogenic Right Ventricular Dysplasia, Familial, 1

Arrhythmogenic Right Ventricular Dysplasia 1

Uhl Anomaly

Arrhythmogenic Right Ventricular Cardiomyopathy 1

Arvc1

ARVD1

Cardiomyopathy Right Ventricular Dilated

Dysplasia, Arrhythmogenic Right Ventricular, Type 1

Congenital Structural Myopathy
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

Arrhythmogenic Right Ventricular Dysplasia, Familial, 10

Arrhythmogenic Right Ventricular Dysplasia 10

ARVD10

Arrhythmogenic Right Ventricular Cardiomyopathy 10

Arvc10

Familial Arrhythmogenic Right Ventricular Dysplasia 10

Dysplasia, Ventricular, Right, Arrhythmogenic, Type 10

Multiminicore Disease

Multiminicore Myopathy

Mmd

Minicore Disease

Minicore Myopathy

Multi-Core Congenital Myopathy

Multi-Core Disease

Multi-Minicore Disease

Multicore Disease

Multicore Myopathy

Minicore Myopathy With External Ophthalmoplegia

Anhidrosis, Isolated, With Normal Sweat Glands

Isolated Anhidrosis With Normal Sweat Glands

Dann-Epstein-Sohar Syndrome

ANHD

Isolated Generalized Anhidrosis With Normal Sweat Glands

Anhidrosis, Familial Generalized, With Normal Sweat Glands

Palmoplantar Keratoderma, Nonepidermolytic

Nonepidermolytic Palmoplantar Keratoderma

NEPPK

Tylosis

Unna-Thost Syndrome

Keratoderma, Palmoplantar, Diffuse

Ppkne

Keratoderma, Nonepidermolytic Palmoplantar

Diffuse Nonepidermolytic Palmomplantar Keratoderma

Thost-Unna Syndrome

Non-Epidermolytic Palmoplantar Keratoderma

Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type

Diffuse Palmoplantar Keratoderma, Bothnian Type

Krt1-Related Diffuse Nonepidermolytic Keratoderma

Krt1-Related Diffuse Neppk

Keratoderma, Palmoplantar, Non-Epidermolytic

Nonepidermolytic Unna-Thost Disease

Non-Epidermolytic Unna-Thost Disease

Keratoderma, Palmoplantar, Nonepidermolytic

Hyperkeratosis

Sick Sinus Syndrome

Sinus Node Dysfunction

Sinus Node Disease

Sinus Node Infection

Snd

Sss

Snd - [Sinus Node Dysfunction]

Sinoatrial Node Dysfunction

Sss - [Sick Sinus Syndrome]

Sick Sinus

Sick Sinus Tachycardia

Left Bundle Branch Hemiblock

Left Bundle Branch Block

Left Bundle-Branch Block

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

Atrioventricular Block

Av Block

Right Bundle Branch Block

Right Bundle Branch Block With Left Posterior Fascicular Block

Long Qt Syndrome 9

LQT9

Long Qt Syndrome-9

Qt Syndrome, Long, Type 9

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

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

Cardiomyopathy, Dilated, 1dd

Dilated Cardiomyopathy 1dd

CMD1DD

Cardiomyopathy, Dilated 1dd

Cardiomyopathy, Dilated, Type 1dd

Familial Woolly Hair Syndrome

Wooly Hair

Familial Wooly Hair Syndrome

Hereditary Woolly Hair Syndrome

Hereditary Wooly Hair Syndrome

Woolly Hair

Syndrome With Woolly Hair

Wooly Hair Syndrome

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Horner'S Syndrome

Horner Syndrome

Bernard-Horner Syndrome

Oculosympathetic Palsy

Bernard Horner Syndrome

Cervical Sympathetic Paralysis

Von Passow Syndrome

Cervical Sympathetic Dystrophy

Familial Atrial Fibrillation

Atrial Fibrillation, Familial

Atfb

Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

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]

Cardiac Tuberculosis

Tuberculosis, Cardiovascular

Cardiovascular Tuberculosis

Myopathy

Muscular Diseases

Myopathies

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

Barth Syndrome

3-Methylglutaconic Aciduria Type 2

BTHS

Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria

Mga Type Ii

Mga2

Mgca2

Mga Type 2

3-Methylglutaconic Aciduria Type Ii

3-Methylglutaconic Aciduria, Type Ii

Mga, Type Ii

3-Methylglutaconicaciduria Type 2

3-Methylglutaconicaciduria Type Ii

Taz Defect

3 Methylglutaconic Aciduria, Type Ii

Dnajc19 Defect

Cardioskeletal Myopathy-Neutropenia Syndrome

X-Linked Cardioskeletal Myopathy And Neutropenia

3-Alpha-Methylglutaconic Aciduria Type 2

Agm2

Cardioskeletal Myopathy-Neutropenia

Invm

Left Ventricular Non-Compaction Isolated X-Linked

Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked

Agammaglobulinemia 2, Autosomal Recessive

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

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

Restrictive Cardiomyopathy

Familial Restrictive Cardiomyopathy

Cardiomyopathy, Restrictive

Cardiomyopathy, Constrictive

Primary Restrictive Cardiomyopathy

Rcm

Cardiomyopathy Restrictive

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

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

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

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]

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
Macaca mulatta RYR2 VGNC VGNC:76954
Mus musculus RYR2 MGD MGI:99685
Felis catus RYR2 VGNC VGNC:82308
Rattus norvegicus RYR2 RGD RGD:620314
Bos taurus RYR2 VGNC VGNC:34234
Canis familiaris RYR2 VGNC VGNC:45822