Gene Information
ryanodine receptor 2 [Source:HGNC Symbol;Acc:HGNC:10484]
RYR2 variants are associated with 4 diseases including catecholaminergic polymorphic ventricular tachycardia and familial isolated arrhythmogenic ventricular dysplasia, biventricular form and 2 others, with 24 documented clinical phenotypes.
The RYR2 gene is associated with 4 medical conditions, including:
catecholaminergic polymorphic ventricular tachycardia
MONDO:0017990
familial isolated arrhythmogenic ventricular dysplasia, biventricular form
MONDO:0017402
familial isolated arrhythmogenic ventricular dysplasia, left dominant form
MONDO:0017401
familial isolated arrhythmogenic ventricular dysplasia, right dominant form
MONDO:0017403
Research has identified 24 phenotypic features associated with RYR2 variants:
Effort-induced polymorphic ventricular tachycardia
HP:0004758
Ventricular tachycardia
HP:0004756
Young adult onset
HP:0011462
Juvenile onset
HP:0003621
Paroxysmal atrial fibrillation
HP:0004757
Sick sinus syndrome
HP:0011704
Bidirectional ventricular tachycardia
HP:0034040
Sudden cardiac death
HP:0001645
Syncope
HP:0001279
Atrial standstill
HP:0025478
Ventricular couplet
HP:0034039
Childhood onset
HP:0011463
Reduced systolic function
HP:0006673
Autosomal dominant inheritance
HP:0000006
Atrioventricular block
HP:0001678
ClinVar contains 10 variants associated with RYR2. Below are some notable variants:
NM_001035.3(RYR2):c.8196G>T (p.Trp2732Cys)
Uncertain significanceVCV004528259
Review: criteria provided, single submitter
NM_001035.3(RYR2):c.6476C>T (p.Pro2159Leu)
Uncertain significanceVCV004527561
Review: criteria provided, single submitter
NM_001035.3(RYR2):c.5963G>A (p.Cys1988Tyr)
Uncertain significanceVCV004527529
Review: criteria provided, single submitter
NM_001035.3(RYR2):c.3091C>G (p.Arg1031Gly)
Uncertain significanceVCV004527476
Review: criteria provided, single submitter
NM_001035.3(RYR2):c.12005T>A (p.Met4002Lys)
Uncertain significanceVCV004527428
Review: criteria provided, single submitter
There are 1,670 publications about RYR2 indexed in PubMed. Below are some recent papers:
RYR2 Exon 3 Deletion as a Cause of Convergent Catecholaminergic Polymorphic Ventricular Tachycardia and Cardiomyopathy.
Segura-Aumente JM, Sola-Garcia E, Jimenez-Alcantara I
PMID: 41255334
•
2025 Nov 19
•
Circ Heart Fail
Crystal structures of Ryanodine Receptor reveal dantrolene and azumolene interactions guiding inhibitor development.
Hadiatullah H, Lin L, Wang Z
PMID: 41253812
•
2025 Nov 18
•
Nat Commun
Wnt pathway activation unlocks disease-neutral proliferative potential in human iPSC-derived cardiomyocytes: A comparative study across healthy and inherited cardiac disease models.
Zhou Y, Huang W, Wang J
PMID: 41242031
•
2025 Nov 10
•
Tissue Cell
The Ca(2+) Bridge: From Neurons to Circuits in Rett Syndrome.
Molina Calistro L, Arancibia Y, Alarcón J
PMID: 41226529
•
2025 Oct 29
•
Int J Mol Sci
BET Inhibitor JQ1 Attenuates Atrial Fibrillation Through Modulation of Fibrosis, Calcium Homeostasis, and Mitochondrial Function in a Murine Model.
Song Z, Murakoshi N, Xu D
PMID: 41226402
•
2025 Oct 24
•
Int J Mol Sci
Get instant, comprehensive insights on RYR2 variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025