GENE NAME | SCNN1B |
CHROMOSOME | 16 |
ENSEMBL ID | ENSG00000168447 |
ENTREZ ID | 6338 |
UNIPROT ACCESSION NUMBER | P51168 |
GO MOLECULAR FUNCTION | WW domain binding; protein binding; ligand-gated sodium channel activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa04960; hsa04742; R-HSA-382551; R-HSA-983712; R-HSA-2672351; hsa04742; hsa04960 |
2 combinations linked to SCNN1B | OLI805; OLI804 |
2 variants linked to SCNN1B | SCNN1B:c.1688G>A, p.Arg563Gln; SCNN1B:c.879C>T, p.Phe293= |
1 disease linked to SCNN1B | Cystic fibrosis |