Identity
HGNC
LOCATION
7q31.2
LOCUSID
ALIAS
ABC35,ABCC7,CF,CFTR/MRP,MRP7,TNR-CFTR,dJ760C5.1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1080
MIM: 602421
HGNC: 1884
Ensembl: ENSG00000001626
Variants:
dbSNP: 1080
ClinVar: 1080
TCGA: ENSG00000001626
COSMIC: CFTR
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38054992 | 2024 | Risk of CFTR-related disorders and cystic fibrosis in an Italian cohort of CRMS/CFSPID subjects in preschool and school age. | 0 |
| 38073611 | 2024 | Hypoxia-induced cystic fibrosis transmembrane conductance regulator dysfunction is a universal mechanism underlying reduced mucociliary transport in sinusitis. | 0 |
| 38114870 | 2024 | An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia. | 0 |
| 38246579 | 2024 | Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis. | 0 |
| 38247876 | 2024 | The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells. | 0 |
| 38284125 | 2024 | CFTR expression in human salivary gland acinar cells. | 0 |
| 38284450 | 2024 | Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree. | 0 |
| 38363865 | 2024 | CFTR is required for zinc-mediated antibacterial defense in human macrophages. | 1 |
| 38372567 | 2024 | The impact of genomic distance on enhancer-promoter interactions at the CFTR locus. | 0 |
| 38493004 | 2024 | CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants. | 0 |
| 38542363 | 2024 | Functional Consequences of CFTR Interactions in Cystic Fibrosis. | 3 |
| 38662334 | 2024 | Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations. | 0 |
| 38697102 | 2024 | Prime editing functionally corrects cystic fibrosis-causing CFTR mutations in human organoids and airway epithelial cells. | 0 |
| 38734430 | 2024 | Insights and considerations on CFTR variant reporting in a study of cystic fibrosis patients in Saudi Arabia CFTR 1548del G and 1549del G: Navigating the discovery of novel mutations. | 0 |
| 38892373 | 2024 | Loss of CFTR Reverses Senescence Hallmarks in SARS-CoV-2 Infected Bronchial Epithelial Cells. | 0 |
Citation
Dessen P
CFTR (CF transmembrane conductance regulator)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46468/cftr
