RYR3 - ryanodine receptor 3 Gene

Also Known as RYR-3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6263

About RYR3

Cytogenetic location: 15q13.3-q14 Genomic coordinates (GRCh38): 15:33,310,967-33,866,102 (from NCBI)

This gene has 35 transcripts (splice variants), 283 orthologues, 5 paralogues and is associated with 1 phenotype. Broad expression in brain (RPKM 1.5), endometrium (RPKM 1.4) and 19 other tissues.

Summary

The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

RYR3 Products (2)

mRNA	Protein	Name
NM_001036.6	NP_001027.3	ryanodine receptor 3 isoform 1
NM_001243996.4	NP_001230925.1	ryanodine receptor 3 isoform 2

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables intracellularly gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	9395096	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium ion transport	IMP IMP: Inferred from mutant phenotype	9395096	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

RYR3 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
4870 a.a.

Protein Preferred Names	Protein Names
ryanodine receptor 3	brain ryanodine receptor-calcium release channel

Related Diseases

Diseases	Alias
Hydrops Fetalis, Nonimmune	Hydrops Fetalis Non-Immune Hydrops Fetalis NIHF Familial Non-Immune Hydrops Fetalis Hydrops Fetalis Nonimmune Idiopathic Hydrops Fetalis Hb Bart'S Hydrops Fetalis Alpha-Thalassemia Hydrops Fetalis Alpha-Thalassemia Major Hemoglobin Bart'S Hydrops Fetalis Homozygous Alpha0-Thalassemia Fetal Anasarca Fetal Hydrops Generalized Fetal Edema Hf Non-Immune Hf Non-Immune Fetal Edema Non-Immune Fetal Hydrops Hydrops Fetalis, Non-Immune Hemoglobin Bart'S Hydrops Syndrome
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Neuroleptic Malignant Syndrome
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
King-Denborough Syndrome	King Denborough Syndrome King Syndrome Kousseff Nichols Syndrome KDS Noonan Like Contracture Myopathy Hyperpyrexia Anesthetic-Induced Malignant Hyperpyrexia In Children Koussef-Nichols Syndrome
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
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
Congenital Structural Myopathy
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
Malignant Hyperthermia	Anesthesia Related Hyperthermia Malignant Hyperpyrexia Due To Anesthesia Hyperpyrexia, Malignant Hyperthermia, Malignant Malignant Hyperpyrexia Mhs Malignant Fever
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
Myopathy	Muscular Diseases Myopathies
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
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
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
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

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12542	Dantrolene	Inhibitor	99.93%	Yes
HY-12542A	Dantrolene sodium hemiheptahydrate	Inhibitor	99.79%	Unkown
HY-14657	Dantrolene sodium	Inhibitor	99.79%	Yes

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-149662	TMDJ-035	Inhibitor	99.92%	Unkown
HY-113040A	(17R,18S)-Epoxyeicosatetraenoic acid	Inhibitor	93.0%	Unkown
HY-RS12370	RYR3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19158	Ryr3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25647	Ryr3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RYR3	VGNC	VGNC:84763
Rattus norvegicus	RYR3	RGD	RGD:68952
Mus musculus	RYR3	MGD	MGI:99684
Canis familiaris	RYR3	VGNC	VGNC:45823
Bos taurus	RYR3	VGNC	VGNC:34235
Felis catus	RYR3	VGNC	VGNC:64837
Others	RYR3	NCBI