RYR2
| is a | gene |
| is | mentioned by |
| Full name | ryanodine receptor 2 (cardiac) |
| Related | RYR1, RYR3 |
| EntrezGene | 6262 |
| PheGenI | 6262 |
| VariationViewer | 6262 |
| ClinVar | RYR2 |
| GeneCards | RYR2 |
| dbSNP | 6262 |
| Diseases | RYR2 |
| SADR | 6262 |
| HugeNav | 6262 |
| wikipedia | RYR2 |
| RYR2 | |
| gopubmed | RYR2 |
| EVS | RYR2 |
| HEFalMp | RYR2 |
| MyGene2 | RYR2 |
| 23andMe | RYR2 |
| UniProt | Q92736 |
| Ensembl | ENSG00000198626 |
| OMIM | 180902 |
| # SNPs | 161 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057517873 | 0 | 237,832,592 | |
| rs1064793256 | 0 | 237,783,714 | |
| rs1064794753 | 0 | 237,784,281 | |
| rs1064796516 | 0 | 237,828,390 | |
| rs10754602 | 0 | 237,388,076 | |
| rs1085307997 | 0 | 237,781,598 | |
| rs1085308008 | 0 | 237,377,361 | |
| rs10925388 | 0 | 237,376,053 | |
| rs121918597 | 0 | 237,634,937 | |
| rs121918598 | 0 | 237,648,523 | |
| rs121918599 | 0 | 237,784,024 | |
| rs121918600 | 0 | 237,791,441 | |
| rs121918601 | 0 | 237,640,938 | |
| rs121918602 | 0 | 237,454,396 | |
| rs121918603 | 0 | 237,639,068 | |
| rs121918604 | 0 | 237,798,037 | |
| rs121918605 | 0 | 237,784,314 | |
| rs121918606 | 0 | 237,819,181 | |
| rs1478912 | 0 | 237,457,939 | |
| rs16835237 | 0 | 237,423,084 | |
| rs17686573 | 0 | 237,492,989 | |
| rs186906598 | 0 | 237,627,977 | |
| rs190140598 | 0 | 237,445,488 | |
| rs1933129 | 0 | 237,114,311 | |
| rs193922622 | 0 | 237,808,916 | |
| rs193922623 | 0 | 237,500,774 | |
| rs193922624 | 0 | 237,566,603 | |
| rs193922625 | 0 | 237,590,872 | |
| rs193922626 | 0 | 237,590,901 | |
| rs200236750 | 0 | 237,566,672 | |
| rs201675951 | 0 | 237,610,770 | |
| rs2050656 | 0 | 237,347,614 | |
| rs2056387 | 0 | 237,760,812 | |
| rs2253273 | 0 | 237,548,497 | |
| rs268786 | 0 | 237,192,685 | |
| rs2819742 | 0 | 237,826,822 | |
| rs2819770 | 0 | 237,747,704 | |
| rs34967813 | 0 | 237,678,090 | |
| rs369512347 | 0 | 237,388,129 | |
| rs375021201 | 0 | 237,783,759 | |
| rs3765097 | 0 | 237,454,457 | |
| rs397516508 | 0 | 237,784,256 | |
| rs397516510 | 0 | 237,791,480 | |
| rs397516539 | 0 | 237,377,365 | |
| rs41315858 | 0 | 237,614,782 | |
| rs533330664 | 0 | 237,550,628 | |
| rs571985775 | 0 | 237,785,999 | |
| rs587782975 | 0 | 237,772,024 | |
| rs6683225 | 0 | 237,186,438 | |
| rs727503396 | 0 | 237,369,589 | |
| ... further results | |||
The RYR2 gene on chromosome 1 encodes the ryanodine receptor 2 protein. This protein is part of a family of ryanodine receptors, which form channels that transport positively charged calcium atoms (calcium ions) within cells. Conditions potentially involving variants in the RYR2 gene include catecholaminergic polymorphic ventricular tachycardia (CPVT) and arrhythmogenic right ventricular cardiomyopathy (ARVC).GHR
Coverage (% of known variants of any magnitude in SNPedia tested by a given company/chip) for variants from this gene is shown in the following table:
| Gene | |
|---|---|
| Company & chip version | RYR2 |
| 23andMe v5 | 46% |
| 27% |
[PMID 24447446] Postmortem genetic screening of SNPs in RyR2 gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population.
[PMID 23651034
] Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population.
[PMID 23595086] Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.
[PMID 22962621] Cell model of catecholaminergic polymorphic ventricular tachycardia reveals early and delayed afterdepolarizations.
[PMID 21954897] Intravenous epinephrine infusion test in diagnosis of catecholaminergic polymorphic ventricular tachycardia.
[PMID 19781797] Ryanodine receptor (RyR2) mutations in sudden cardiac death: studies in extended pedigrees and phenotypic characterization in vitro.
[PMID 19216760] Search for cardiac calcium cycling gene mutations in familial ventricular arrhythmias resembling catecholaminergic polymorphic ventricular tachycardia.
[PMID 18929323] U-waves and T-wave peak to T-wave end intervals in patients with catecholaminergic polymorphic ventricular tachycardia, effects of beta-blockers.
[PMID 17347175] Mutant ryanodine receptors in catecholaminergic polymorphic ventricular tachycardia generate delayed afterdepolarizations due to increased propensity to Ca2+ waves.
[PMID 15913575] Catecholaminergic polymorphic ventricular tachycardia: recent mechanistic insights.
[PMID 15720454] Calcium channel antagonism reduces exercise-induced ventricular arrhythmias in catecholaminergic polymorphic ventricular tachycardia patients with RyR2 mutations.
[PMID 15271719] Volatile anesthetics and succinylcholine in cardiac ryanodine receptor defects.
[PMID 15197150] Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak.
[PMID 15176428] Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia.
[PMID 14571276] Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms.
[PMID 11157710] Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.
