GENE NAME | RBM20 |
CHROMOSOME | 10 |
ENSEMBL ID | ENSG00000203867 |
ENTREZ ID | 282996 |
UNIPROT ACCESSION NUMBER | Q5T481 |
GO MOLECULAR FUNCTION | mRNA binding; protein binding; RNA binding; nucleic acid binding; zinc ion binding |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
2 combinations linked to RBM20 | OLI235; OLI647 |
2 variants linked to RBM20 | RBM20:c.2062C>T, p.Arg688Ter; RBM20:c.1364C>T, p.Ser455Leu |
2 diseases linked to RBM20 | Dilated cardiomyopathy; Sudden infant death syndrome |