CFTR Chromosome 7
CF transmembrane conductance regulator
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What This Gene Does
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
"Chloride channels, ATP-gated CFTR|ATP binding cassette subfamily C"
Locus Type
gene with protein product
Location
7q31.2
Ensembl
ENSG00000001626
Associated Conditions (64)
Cystic fibrosis
ivacaftor response - Efficacy
Hereditary pancreatitis
CFTR-related disorder
Bronchiectasis with or without elevated sweat chloride 1
Congenital bilateral aplasia of vas deferens from CFTR mutation
Congenital bilateral absence of vas deferens
Male infertility
Obstructive azoospermia
Melanoma-pancreatic cancer syndrome
Cystic fibrosis diagnostic test
Fetal cystic hygroma
Respiratory ciliopathies including non-CF bronchiectasis
Nephronophthisis 14
Uterine carcinosarcoma
See cases
Spermatogenic failure
Y-linked
2
Lung disease
+44 more conditions
Key Variants
RS115545701
drug response
Cystic fibrosis, ivacaftor response - Efficacy, Hereditary pancreatitis
Drug Response
RS11971167
drug response
Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis, Hereditary pancreatitis
Drug Response
RS141033578
drug response
Cystic fibrosis, ivacaftor response - Efficacy, Congenital bilateral aplasia of vas deferens from CFTR mutation
Drug Response
RS150212784
drug response
Cystic fibrosis, ivacaftor response - Efficacy, Hereditary pancreatitis
Drug Response
RS186045772
drug response
Cystic fibrosis, ivacaftor response - Efficacy, Congenital bilateral aplasia of vas deferens from CFTR mutation
Drug Response
RS202179988
drug response
Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis, ivacaftor response - Efficacy
Drug Response
RS397508288
drug response
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, CFTR-related disorder
Drug Response
RS397508513
drug response
Cystic fibrosis, ivacaftor response - Efficacy, Cystic fibrosis
Drug Response
RS75541969
drug response
Cystic fibrosis, ivacaftor response - Efficacy, Congenital bilateral aplasia of vas deferens from CFTR mutation
Drug Response
RS121908753
Pathogenic; drug response
Cystic fibrosis, ivacaftor response - Efficacy, Bronchiectasis with or without elevated sweat chloride 1
Drug Response
RS121908757
Pathogenic; drug response
Cystic fibrosis, ivacaftor response - Efficacy, Congenital bilateral aplasia of vas deferens from CFTR mutation
Drug Response
RS121909013
Pathogenic; drug response
Cystic fibrosis, ivacaftor response - Efficacy, CFTR-related disorder
Drug Response
All Variants (1397)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1399483116 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS140455771 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS140502196 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, See cases |
| RS140883683 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Bronchiectasis with or without elevated sweat chloride 1 |
| RS141554123 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Cystic fibrosis |
| RS141723617 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Cystic fibrosis |
| RS142540482 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Cystic fibrosis |
| RS142920240 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Cystic fibrosis |
| RS143456784 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS143486492 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Cystic fibrosis |
| RS144476686 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Hereditary pancreatitis |
| RS1447914513 | Health Risk | Conflicting classifications of pathogenicity | CFTR-related disorder, Cystic fibrosis, CFTR-related disorder |
| RS145540754 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Cystic fibrosis |
| RS1457520634 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS145877746 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, CFTR-related disorder |
| RS1459732115 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS146804928 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Cystic fibrosis |
| RS147422190 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, CFTR-related disorder |
| RS148519623 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, CFTR-related disorder |
| RS148783445 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Cystic fibrosis |
| RS149197463 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1, Hereditary pancreatitis |
| RS150157202 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Hereditary pancreatitis |
| RS150683293 | Health Risk | Conflicting classifications of pathogenicity | CFTR-related disorder, Cystic fibrosis, CFTR-related disorder |
| RS150914702 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Cystic fibrosis |
| RS151073129 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Hereditary pancreatitis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS151235408 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Obstructive azoospermia |
| RS1554375870 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS1554380493 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS1554382653 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Hereditary pancreatitis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS1554382664 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Cystic fibrosis |
| RS1554384382 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS1554384440 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS1554384454 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Cystic fibrosis |
| RS1554389245 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS1554395370 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis |
| RS1554397772 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS1562876459 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS1562889397 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS1562889435 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS1562892293 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS1562895009 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS1562895052 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS1562907186 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS1562914212 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Hereditary pancreatitis, Cystic fibrosis |
| RS1562929196 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS1562929623 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Cystic fibrosis |
| RS1584776330 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, CFTR-related disorder, Cystic fibrosis |
| RS1584776437 | Health Risk | Conflicting classifications of pathogenicity | Congenital bilateral aplasia of vas deferens from CFTR mutation, Cystic fibrosis, Cystic fibrosis |
| RS1584810152 | Health Risk | Conflicting classifications of pathogenicity | CFTR-related disorder, Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS1584813846 | Health Risk | Conflicting classifications of pathogenicity | Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation, Bronchiectasis with or without elevated sweat chloride 1 |