Identity
HGNC
LOCATION
1q43
LOCUSID
ALIAS
ARVC2,ARVD2,RYR-2,RyR,VACRDS,VTSIP
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6262
MIM: 180902
HGNC: 10484
Ensembl: ENSG00000198626
Variants:
dbSNP: 6262
ClinVar: 6262
TCGA: ENSG00000198626
COSMIC: RYR2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA166123311 | catecholaminergic polymorphic ventricular tachycardia | Disease | DataAnnotation, Literature, MultilinkAnnotation | associated | 23788249 | ||
| PA443635 | Cardiovascular Diseases | Disease | ClinicalAnnotation | associated | PD | 25753936, 27839692 | |
| PA445549 | Rhabdomyolysis | Disease | ClinicalAnnotation | associated | PD | 21386754 | |
| PA448500 | atorvastatin | Chemical | ClinicalAnnotation | associated | PD | 25753936, 27839692 | |
| PA448897 | cerivastatin | Chemical | ClinicalAnnotation | associated | PD | 21386754 | |
| PA451363 | simvastatin | Chemical | ClinicalAnnotation | associated | PD | 25753936, 27839692 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37890099 | 2024 | Point mutations in RyR2 Ca2+-binding residues of human cardiomyocytes cause cellular remodelling of cardiac excitation contraction-coupling. | 1 |
| 38444585 | 2024 | Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene. | 0 |
| 38479959 | 2024 | RYR2 Variant and Sudden Death in Patients With Dilated Cardiomyopathy. | 0 |
| 37890099 | 2024 | Point mutations in RyR2 Ca2+-binding residues of human cardiomyocytes cause cellular remodelling of cardiac excitation contraction-coupling. | 1 |
| 38444585 | 2024 | Whole-exome sequencing in familial type 2 diabetes identifies an atypical missense variant in the RyR2 gene. | 0 |
| 38479959 | 2024 | RYR2 Variant and Sudden Death in Patients With Dilated Cardiomyopathy. | 0 |
| 36082968 | 2023 | A gain of function ryanodine receptor 2 mutation (R1760W-RyR2) in catecholaminergic polymorphic ventricular tachycardia. | 1 |
| 36453019 | 2023 | Ryanodine receptor 2 promotes colorectal cancer metastasis by the ROS/BACH1 axis. | 3 |
| 36583384 | 2023 | RyR2 Serine-2030 PKA Site Governs Ca(2+) Release Termination and Ca(2+) Alternans. | 0 |
| 36693454 | 2023 | Life-threatening arrhythmogenic CaM mutations disrupt CaM binding to a distinct RyR2 CaM-binding pocket. | 2 |
| 37122207 | 2023 | Patient-specific induced pluripotent stem cell properties implicate Ca(2+)-homeostasis in clinical arrhythmia associated with combined heterozygous RYR2 and SCN10A variants. | 4 |
| 37492947 | 2023 | RyR2 C-terminal truncating variants identified in patients with arrhythmic phenotypes exert a dominant negative effect through formation of wildtype-truncation heteromers. | 0 |
| 37495581 | 2023 | Cysteines 1078 and 2991 cross-linking plays a critical role in redox regulation of cardiac ryanodine receptor (RyR). | 2 |
| 37532495 | 2023 | [Clinical and genetic analysis of five children with Catecholaminergic polymorphic ventricular tachycardia due to variants of RYR2 gene]. | 0 |
| 37639776 | 2023 | Pediatric myasthenia gravis with a combination of AChR and RyR is associated with an earlier onset and lower CSR rate: A cohort study in southwest China. | 0 |
Citation
Dessen P
RYR2 (ryanodine receptor 2)
Atlas Genet Cytogenet Oncol Haematol. 2007-06-01
Online version: http://atlasgeneticsoncology.org/gene/47558/ryr2-(ryanodine-receptor-2)
