| GENE NAME | RYR3 |
| CHROMOSOME | 15 |
| ENSEMBL ID | None |
| ENTREZ ID | ENSG00000198838 |
| UNIPROT ACCESSION NUMBER | A0A0X1KG73 |
| GO MOLECULAR FUNCTION | ['calcium-induced calcium release activity', 'calcium ion binding', 'ryanodine-sensitive calcium-release channel activity', 'calcium-release channel activity', 'calmodulin binding'] |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | hsa04020; hsa04371; hsa04713; hsa04921; hsa04970; hsa05010; hsa05012; hsa05020; hsa05022; R-HSA-2672351; R-HSA-382551; R-HSA-397014; R-HSA-5576891; R-HSA-5578775; R-HSA-983712 |
| 4 combinations linked to RYR3 | OLI1041; OLI1462; OLI790; OLI1042 |
| 4 variants linked to RYR3 | RYR3:c.2486G>A, p.Arg829His; RYR3:c.393C>A, p.Asp131Glu; RYR3:c.592A>G, p.Met198Val; RYR3:c.2486G>A, p.Arg829His |
| 3 diseases linked to RYR3 | Rare pervasive developmental disorder; Primary ovarian failure; Arthrogryposis syndrome |