| GENE NAME | RYR2 |
| CHROMOSOME | 1 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000198626 |
| UNIPROT ACCESSION NUMBER | Q92736 |
| GO MOLECULAR FUNCTION | ['protein kinase A regulatory subunit binding', 'enzyme binding', 'calcium-induced calcium release activity', 'calcium channel activity', 'protein self-association', 'transmembrane transporter binding', 'calcium ion binding', 'ryanodine-sensitive calcium-release channel activity', 'calcium-release channel activity', 'calmodulin binding', 'protein binding', 'protein kinase A catalytic subunit binding', 'identical protein binding', 'suramin binding'] |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | hsa04020; hsa04024; hsa04260; hsa04261; hsa04371; hsa04713; hsa04911; hsa04921; hsa04972; hsa05020; hsa05022; hsa05410; hsa05412; hsa05414; R-HSA-2672351; R-HSA-382551; R-HSA-397014; R-HSA-5576891; R-HSA-5578775; R-HSA-983712 |
| 3 combinations linked to RYR2 | OLI981; OLI1463; OLI647 |
| 3 variants linked to RYR2 | RYR2:c.3660T>A, p.Asp1220Glu; RYR2:c.2350A>T, p.Ile784Phe; RYR2:c.9569G>A, p.Arg3190Gln |
| 3 diseases linked to RYR2 | Rare pervasive developmental disorder; Torsade-de-pointes syndrome with short coupling interval; Sudden infant death syndrome |