| Entrez Gene ID | 6262 |
|---|---|
| Official Gene Symbol | RYR2 (GeneCards) |
| Full name | ryanodine receptor 2 |
| Location | 1q43 |
| Other ids | Vega : OTTHUMG00000039543 MIM : 180902 HGNC : HGNC:10484 Ensembl : ENSG00000198626 |
| Other names | RyR, ARVC2, ARVD2, RYR-2, VTSIP |
| Summary | This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008] |
Found 13 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 277 | 6262 | RYR2 | 1 | 237804283 | 237804283 | Catecholaminergic polymorphic ventricular tachycardia1 | High Resolution Melting |
| 278 | 6262 | RYR2 | 1 | 237804283 | 237804283 | Catecholaminergic polymorphic ventricular tachycardia1 | High Resolution Melting |
| 279 | 6262 | RYR2 | 1 | 237804283 | 237804283 | Catecholaminergic polymorphic ventricular tachycardia1 | High Resolution Melting |
| 884 | 6262 | RYR2 | 1 | 237666605 | 237666605 | Human Skin Fibroblasts | High Resolution Melting HiSeq 2500 |
| 1605 | 6262 | RYR2 | 1 | 237658659 | 237658659 | Asymptomatic | High Resolution Melting HiSeq 2500 HiSeq X Ten |
| 1950 | 6262 | RYR2 | 1 | 238004938 | 238004938 | Asymptomatic | High Resolution Melting HiSeq 2500 HiSeq X Ten |
| 2339 | 6262 | RYR2 | 1 | 237992606 | 237992606 | Asymptomatic | High Resolution Melting HiSeq 2500 HiSeq X Ten |
| 2372 | 6262 | RYR2 | 1 | 237400042 | 237400042 | Asymptomatic | High Resolution Melting HiSeq 2500 HiSeq X Ten |
| 2624 | 6262 | RYR2 | 1 | 237763340 | 237763340 | Cockayne syndrome | High Resolution Melting HiSeq 2500 HiSeq X Ten |
| 2639 | 6262 | RYR2 | 1 | 237293574 | 237293574 | Cockayne syndrome | High Resolution Melting HiSeq 2500 HiSeq X Ten |
| 22431 | 6262 | RYR2 | 1 | 237413109 | 237413109 | Asymptomatic | High Resolution Melting HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 22519 | 6262 | RYR2 | 1 | 237274033 | 237274033 | Asymptomatic | High Resolution Melting HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 24375 | 6262 | RYR2 | 1 | 237973265 | 237973265 | Asymptomatic | High Resolution Melting HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |