GENE NAME | DSC2 |
CHROMOSOME | 18 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000134755 |
UNIPROT ACCESSION NUMBER | Q02487 |
GO MOLECULAR FUNCTION | ['cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication', 'calcium ion binding', 'protein binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa05412; R-HSA-1266738; R-HSA-6805567; R-HSA-6809371 |
3 combinations linked to DSC2 | OLI1800; OLI647; OLI268 |
3 variants linked to DSC2 | DSC2:; DSC2:c.2603C>T, p.Ser868Phe; DSC2:c.2398del, p.Ala800LeufsTer56 |
4 diseases linked to DSC2 | Hypertrophic cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy; Dilated cardiomyopathy; Sudden infant death syndrome |