Details for Gene DSC2

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

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