GENE NAME | DSP |
CHROMOSOME | 6 |
ENSEMBL ID | ENSG00000096696 |
ENTREZ ID | 1832 |
UNIPROT ACCESSION NUMBER | P15924 |
GO MOLECULAR FUNCTION | structural constituent of cytoskeleton; protein binding; cell adhesion molecule binding; structural molecule activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-168249; R-HSA-111465; R-HSA-351906; R-HSA-168256; R-HSA-109581; R-HSA-5357801; hsa05412; R-HSA-6809371; R-HSA-1266738; R-HSA-6805567; R-HSA-75153; R-HSA-6798695 |
4 combinations linked to DSP | OLI236; OLI233; OLI548; OLI547 |
4 variants linked to DSP | DSP:c.1941A>C, p.Gln647His; DSP:c.740C>T, p.Ala247Val; DSP:c.38C>T, p.Thr13Ile; DSP:c.1282_1283insA, p.Asn428Ter |
3 diseases linked to DSP | Hypertrophic cardiomyopathy; Dilated cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy |