GENE NAME | DES |
CHROMOSOME | 2 |
ENSEMBL ID | ENSG00000175084 |
ENTREZ ID | 1674 |
UNIPROT ACCESSION NUMBER | P17661 |
GO MOLECULAR FUNCTION | structural constituent of cytoskeleton; protein binding; identical protein binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-390522; hsa05414; hsa05412; hsa05410; R-HSA-397014 |
3 combinations linked to DES | OLI499; OLI190; OLI415 |
3 variants linked to DES | DES:c.1503G>A, p.Val469Met; DES:c.656C>T, p.Thr219Ile; DES:c.638C>T, p.Ala213Val |
4 diseases linked to DES | Congenital diaphragmatic hernia; Emery-Dreifuss muscular dystrophy; Marfan syndrome; Limb-girdle muscular dystrophy |