RYR2 - ryanodine receptor 2 Gene

Also Known as RyR; ARVC2; ARVD2; RYR-2; VTSIP; VACRDS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6262

About 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).

Summary

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 Products (1)

mRNA	Protein	Name
NM_001035.3	NP_001026.2	ryanodine receptor 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium-induced calcium release activity	IDA IDA: Inferred from direct assay	17921453	GOA
enables calmodulin binding	IDA IDA: Inferred from direct assay	22067155	GOA
enables calmodulin binding	IMP IMP: Inferred from mutant phenotype	19220289	GOA
enables calmodulin binding	IPI IPI: Inferred from physical interaction	23040497	GOA
enables enzyme binding	IPI IPI: Inferred from physical interaction	16213210	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	10830164	GOA
enables intracellularly gated calcium channel activity	IDA IDA: Inferred from direct assay	17921453	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10830164	GOA
enables protein kinase A catalytic subunit binding	IDA IDA: Inferred from direct assay	10830164	GOA
enables protein kinase A regulatory subunit binding	IDA IDA: Inferred from direct assay	10830164	GOA
enables ryanodine-sensitive calcium-release channel activity	IDA IDA: Inferred from direct assay	12443530	GOA
enables suramin binding	IMP IMP: Inferred from mutant phenotype	19220289	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium ion transport	IDA IDA: Inferred from direct assay	17921453	GOA
involved in calcium ion transport into cytosol	IDA IDA: Inferred from direct assay	17921453	GOA
involved in calcium-mediated signaling	IDA IDA: Inferred from direct assay	17921453	GOA
involved in cardiac muscle contraction	IMP IMP: Inferred from mutant phenotype	10830164	GOA
involved in cellular response to caffeine	IDA IDA: Inferred from direct assay	12919952	GOA
involved in detection of calcium ion	IDA IDA: Inferred from direct assay	10830164	GOA
involved in establishment of protein localization to endoplasmic reticulum	IDA IDA: Inferred from direct assay	12443530	GOA
involved in positive regulation of sequestering of calcium ion	IDA IDA: Inferred from direct assay	12443530	GOA
involved in positive regulation of the force of heart contraction	IMP IMP: Inferred from mutant phenotype	15105296	GOA
involved in regulation of AV node cell action potential	IMP IMP: Inferred from mutant phenotype	17875969	GOA
involved in regulation of SA node cell action potential	IMP IMP: Inferred from mutant phenotype	17875969	GOA
involved in regulation of atrial cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	17875969	GOA
involved in regulation of cardiac muscle contraction	IMP IMP: Inferred from mutant phenotype	11159936	GOA
involved in regulation of cardiac muscle contraction by calcium ion signaling	IMP IMP: Inferred from mutant phenotype	17875969	GOA
involved in regulation of heart rate	IMP IMP: Inferred from mutant phenotype	11159936	GOA
involved in regulation of ventricular cardiac muscle cell action potential	IMP IMP: Inferred from mutant phenotype	17875969	GOA
involved in release of sequestered calcium ion into cytosol	IDA IDA: Inferred from direct assay	12443530	GOA
involved in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA IDA: Inferred from direct assay	27733687	GOA
involved in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP IMP: Inferred from mutant phenotype	12919952	GOA
involved in response to caffeine	IDA IDA: Inferred from direct assay	17921453	GOA
involved in response to muscle activity	IMP IMP: Inferred from mutant phenotype	17875969	GOA
involved in response to muscle stretch	IMP IMP: Inferred from mutant phenotype	15105296	GOA
involved in response to redox state	IDA IDA: Inferred from direct assay	19226252	GOA
involved in type B pancreatic cell apoptotic process	IMP IMP: Inferred from mutant phenotype	15044459	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Z disc	IDA IDA: Inferred from direct assay	19131648	GOA
part of calcium channel complex	IDA IDA: Inferred from direct assay	10830164	GOA
located in membrane	IDA IDA: Inferred from direct assay	12443530	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	18468998	GOA
located in sarcoplasmic reticulum	IDA IDA: Inferred from direct assay	10830164	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

RYR2 Protein Structure

Ins145_P3_rec

MIR

RYDR_ITPR

SPRY

RyR

SPRY

RYDR_ITPR

RyR

RIH_assoc

RR_TM4-6

Ion_trans

0
800
1600
2400
3200
4000
4800
4967 a.a.

Protein Preferred Names	Protein Names
ryanodine receptor 2	cardiac muscle ryanodine receptor-calcium release channel

RYR2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RYR2	Q92736	MDM2	Homo sapiens	Q00987	TAP	20195357
Intra	RYR2	Q92736	FKBP1B	Homo sapiens	P68106	Competition Binding	11237759

Cross: Cross-species interaction Intra: Intraspecies interaction

RYR2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811083	Phospho-Ryanodine Receptor 2 (Ser2808) Antibody	WB, IHC-P, ICC/IF	Human, Mouse, Rat

Related Diseases

Diseases	Alias
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]

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
Clinical Phase
Pre-clinical Phase

Approval

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W010950	Flecainide	Inhibitor	99.98%	Unkown
HY-W010950A	Flecainide hydrochloride	Inhibitor	99.93%	Unkown

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-119850	Aladorian	Modulator	99.55%	Phase 2

Pre-clinical Phase

Bioactive Molecules (17)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-149662	TMDJ-035	Inhibitor	99.92%	Unkown
HY-15292	S107	Ligand	99.77%	Unkown
HY-N7491A	Ent-(+)-Verticilide	Inhibitor	99.91%	Unkown
HY-P5114A	Maurocalcine TFA	Agonist	95.09%	Unkown
HY-RS12369	RYR2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-103059	SOICR-IN-1		99.62%	Unkown
HY-P5114	Maurocalcine	Agonist	/	Unkown
HY-Z7733	O-Desmethylcarvedilol	Inhibitor	97.4%	Unkown
HY-119850A	Aladorian sodium	Modulator	/	Unkown
HY-178344	Multi-target kinase-IN-6	Activator	/	Unkown
HY-P5319	MCaE12A	Activator	/	Unkown
HY-149779	RyR2 stabilizer-1	Modulator	/	Unkown
HY-164631	EL20	Inhibitor	/	Unkown
HY-166478S	O-Desmethyl carvedilol-d5	Inhibitor	/	Unkown
HY-RS19951	Ryr2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26453	Ryr2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W010950S	Flecainide-d3		99.9%	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	RYR2	NCBI