RYR2

ryanodine receptor 2

6 disorders 5 untyped 1 no genetic record 1q43 gene with protein product

HGNC:10484 Monarch NCBI Gene 6262 ENSG00000198626 UniProt Q92736 OMIM 180902

Previous symbols: ARVD2. Aliases: ARVC2, VTSIP.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Coronary Artery Congenital Malformation	untyped Candidate Susceptibility Gene
Dilated Cardiomyopathy	untyped Pathogenic Variants	mechanism: Cardiomyocyte Calcium Release Dysregulation
Hypertrophic Cardiomyopathy	untyped Pathogenic Variants	mechanism: Altered Calcium Handling
RYR2 CPVT	untyped Causative	mechanism: Calstabin-2 (FKBP12.6) Dissociation from RyR2; Diastolic Sarcoplasmic Reticulum Calcium Leak; RYR2 Gain-of-Function Variant; Reduced Luminal Calcium Activation Threshold; RyR2 Interdomain Unzipping; RyR2 Primed-State Conformation subtype: CPVT1
Torsade de Pointes Syndrome With Short Coupling Interval	untyped Susceptibility	mechanism: RYR2-mediated calcium release susceptibility
Digitalis Poisoning	no genetic record	mechanism: Spontaneous Diastolic Calcium Release

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
dilated cardiomyopathy MONDO:0005021	AD	Limited 2025-01-10	Dilated Cardiomyopathy untyped
hypertrophic cardiomyopathy MONDO:0005045	AD	Limited 2022-12-14	Hypertrophic Cardiomyopathy untyped
arrhythmogenic right ventricular cardiomyopathy MONDO:0016587	AD	Refuted 2019-07-19	arrhythmogenic right ventricular cardiomyopathy not named
catecholaminergic polymorphic ventricular tachycardia MONDO:0017990	AD	Definitive 2021-01-20	RYR2 CPVT untyped

Mechanism modules · computed from kb/

cardiac_camp_pka_calcium_handling named in the module itself
cardiac_ion_channel_repolarization via RYR2 CPVT, Torsade de Pointes Syndrome With Short Coupling Interval named in the module itself

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.