| GENE NAME | CFTR |
| CHROMOSOME | 7 |
| ENSEMBL ID | ENSG00000001626 |
| ENTREZ ID | 1080 |
| UNIPROT ACCESSION NUMBER | P13569 |
| GO MOLECULAR FUNCTION | intracellularly ATP-gated chloride channel activity; ATPase-coupled transmembrane transporter activity; protein binding; ATP hydrolysis activity; chloride transmembrane transporter activity; enzyme binding; isomerase activity; ATPase-coupled inorganic anion transmembrane transporter activity; Sec61 translocon complex binding; chaperone binding; bicarbonate transmembrane transporter activity; chloride channel inhibitor activity; PDZ domain binding; chloride channel activity; chloride channel regulator activity; ATP binding; ABC-type transporter activity |
| ESSENTIAL IN MOUSE | Essential |
| PATHWAYS | R-HSA-5619084; R-HSA-5627083; R-HSA-9615710; R-HSA-194315; R-HSA-162582; R-HSA-5678895; R-HSA-9663891; hsa04976; hsa04976; R-HSA-597592; hsa04152; hsa05110; hsa04152; hsa05110; hsa04024; hsa04024; R-HSA-195258; R-HSA-9613829; R-HSA-5619115; R-HSA-5653656; R-HSA-8856828; hsa04971; hsa04971; R-HSA-5688426; R-HSA-382551; hsa04530; hsa04972; hsa04530; hsa04972; R-HSA-382556; R-HSA-9646399; R-HSA-8856825; hsa02010; hsa02010; R-HSA-1643685; R-HSA-392499; R-HSA-1632852; R-HSA-199991; R-HSA-9612973; R-HSA-5689880 |
| 4 combinations linked to CFTR | OLI1139; OLI802; OLI801; OLI800 |
| 4 variants linked to CFTR | CFTR:c.1209G>A, p.Glu403=; CFTR:c.1584G>A, p.Glu528=; CFTR:c.1775G>A, p.Cys592Tyr; CFTR:c.650A>G, p.Glu217Gly |
| 2 diseases linked to CFTR | Cystic fibrosis; Mayer-Rokitansky-Küster-Hauser syndrome |