CFTR
ENSG00000001626
Target class
Ion channel
Chromosome
7
Approved drugs
7
Clinical candidates (approved and in development)
13
- Approved drugs
- 7
- Clinical candidates (approved and in development)
- 13
- Chemical probe available
- Yes
- Target name
- CFTR
- Gene name
- CF transmembrane conductance regulator
- Gene symbol
- CFTR
- Protein name
- Cystic fibrosis transmembrane conductance regulator (CFTR) (ATP-binding cassette sub-family C member 7) (Channel conductance-controlling ATPase) (EC 5.6.1.6) (cAMP-dependent chloride channel)
- MRP7
- ABC35
- TNR-CFTR
- dJ760C5.1
- CFTR/MRP
- CF
- ABCC7
- Gene biotype
- Protein coding
- Gene family
- Chloride channels, ATP-gated CFTR|ATP binding cassette subfamily C
- Target class
- Ion channel
- Target type
- Human gene
- Tissues expressed in
- 9
- Highest tissue expression
- 65.79
- Tissue specificity (Gini)
- 0.898
- Tissue specificity (tau)
- 0.986
- KEGG gene identifiers
- hsa:1080
- Protein interaction confidence
- 0.861833
- Protein interaction partners
- 72
- R-HSA-382556
- R-HSA-5627083
- R-HSA-5678895
- R-HSA-5689880
- R-HSA-8856825
- R-HSA-8856828
- R-HSA-9013406
- R-HSA-9613829
- R-HSA-9615710
- R-HSA-9646399
- R-HSA-9925563
- End position
- 117715971
- Start position
- 117287120
- Chromosome
- 7
- Strand
- Forward
- Apical cell membrane
- Multi-pass membrane protein . Early endosome membrane
- Multi-pass membrane protein . Cell membrane
- Multi-pass membrane protein . Recycling endosome membrane
- Multi-pass membrane protein . Endoplasmic reticulum membrane
- Multi-pass membrane protein . Nucleus . Note=The channel is internalized from the cell surface into an endosomal recycling compartment, from where it is recycled to the cell membrane (PubMed:17462998, PubMed:19398555, PubMed:20008117). In the oviduct and bronchus, detected on the apical side of epithelial cells, but not associated with cilia (PubMed:22207244). In Sertoli cells, a processed product is detected in the nucleus (By similarity). ER stress induces GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of core-glycosylated CFTR to cell membrane (PubMed:21884936). .
- PubMed 12519745
- PubMed 12529365
- PubMed 1284548
- PubMed 15247260
- PubMed 15716351
- PubMed 17462998
- PubMed 19398555
- PubMed 19621064
- PubMed 20008117
- PubMed 22207244
- PubMed 28130590
- PubMed 10792060
- PubMed 11524016
- PubMed 11707463
- PubMed 12588899
- PubMed 15010471
- PubMed 17036051
- PubMed 1712898
- PubMed 17182731
- PubMed 19019741
- PubMed 21884936
- PubMed 22178883
- PubMed 25330774
- PubMed 26846474
- PubMed 28001373
And 4 more, listed on the interactive page.
- Tissue specificity (tau)
- 0.985812
- Expression inequality (Gini)
- 0.898288
Expression in transcripts per million
- Pancreas
- 65.79
- Colon - Transverse
- 17.32
- Minor Salivary Gland
- 9.92
- Small Intestine - Terminal Ileum
- 5.06
- Lung
- 2.36
Expression in transcripts per million
- Pancreas65.79
- Colon - Transverse17.32
- Minor Salivary Gland9.92
- Small Intestine - Terminal Ileum5.06
- Lung2.36
- Skin - Sun Exposed (Lower leg)1.79
- Testis1.7
- Prostate1.5
- Skin - Not Sun Exposed (Suprapubic)1.31
- Brain - Spinal cord (cervical c-1)0.98
- Kidney - Cortex0.96
- Fallopian Tube0.69
- Liver0.56
- Brain - Caudate (basal ganglia)0.42
- Brain - Nucleus accumbens (basal ganglia)0.39
- Brain - Substantia nigra0.39
- Brain - Putamen (basal ganglia)0.34
- Esophagus - Mucosa0.33
- Kidney - Medulla0.32
- Brain - Hippocampus0.27
- Adipose - Visceral (Omentum)0.26
- Pituitary0.19
- Uterus0.19
- Brain - Hypothalamus0.18
- Stomach0.16
And 29 more, listed on the interactive page.
- GO:0015701
- GO:0034976
- GO:0035377
- GO:0050891
- GO:0055085
- GO:1902476
- GO:1904322
- GO:0005737
- GO:0005765
- GO:0005769
- GO:0005789
- GO:0005829
- GO:0005886
- GO:0009986
- GO:0010008
- GO:0016020
- GO:0016324
- GO:0030660
- GO:0030669
- GO:0031901
- GO:0032991
- GO:0055037
- GO:0005254
- GO:0005260
- GO:0005515
- GO:0005524
- GO:0015106
- GO:0015108
- GO:0016887
- GO:0017081
- GO:0019869
- GO:0019899
- GO:0030165
- GO:0042626
- GO:0051087
- GO:0071889
- GO:0106138
Related records
Trials (145)
- (Study: Vertex IIS) Does Ivacaftor Alter Wild Type CFTR-Open Probability In The Sweat Gland Secretory Coil?
- A Double-Blind, Randomized, Placebo-Controlled, Multicenter Study to Assess the Efficacy and Safety of Orally Administered SP-303 for the Treatment of Diarrhea in Acquired Immunodeficiency Syndrome (AIDS) Patients
- A Phase 1 Study to Examine the Drug-Drug Interaction of Ciprofloxacin, Itraconazole, and Rifampin on the Combination of Lumacaftor With Ivacaftor in Healthy Adult Subjects
- A Phase 1 Study to Investigate the Food Effect of Lumacaftor in Combination With Ivacaftor
- A Phase 2 Study Evaluating Safety and Tolerability of RCT2100 (CFTR mRNA) in Healthy Participants and in Participants With CF
- A Phase 2 Study of ABBV-3067 Alone and in Combination With ABBV-2222
- A Phase 2 Study to Evaluate Effects of VX-661/Ivacaftor on Lung and Extrapulmonary Systems in Subjects With Cystic Fibrosis, Homozygous for the F508del-CFTR Mutation
- A Phase 2 Study to Evaluate Efficacy and Safety of VX-561 in Subjects Aged 18 Years and Older With Cystic Fibrosis
- A Phase 2 Study to Evaluate the Safety, Tolerability, PK and PD in Cystic Fibrosis Patients With at Least 1 G542X Allele
- A Phase 2 Study to Evaluate the Safety, Tolerability, PK and PD of ELX-02 in Cystic Fibrosis Patients With G542X Allele
- A Phase 3 Rollover Study of Lumacaftor in Combination With Ivacaftor in Subjects 12 Years and Older With Cystic Fibrosis
- A Phase 3 Study of Tezacaftor (VX-661) in Combination With Ivacaftor (VX-770) in Subjects Aged 12 Years and Older With Cystic Fibrosis (CF), Who Have One F508del-CFTR Mutation and a Second Mutation That Has Been Demonstrated to be Clinically Responsive to Ivacaftor
- A Phase 3 Study of VX-121 Combination Therapy in Participants With Cystic Fibrosis (CF) Heterozygous for F508del and a Minimal Function Mutation (F/MF)
- A Phase 3 Study of VX-445 Combination Therapy in Subjects With Cystic Fibrosis Heterozygous for the F508del Mutation and a Minimal Function Mutation (F/MF)
- A Phase 3 Study to Evaluate the Efficacy and Safety of Ivacaftor and VX-661 in Combination With Ivacaftor in Subjects Aged 12 Years and Older With Cystic Fibrosis, Heterozygous for the F508del-cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutation
- A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study to Evaluate the Efficacy and Safety of VX-661 in Combination With Ivacaftor
- A Safety, Tolerability and Efficacy Study With QBW251 in COPD Patients With QBW251
- A Study Evaluating Safety and Pharmacokinetics of VX-440 in Combination With Tezacaftor/Ivacaftor in Healthy Adult Subjects
- A Study Evaluating the Long-term Safety and Efficacy of VX-121 Combination Therapy
- A Study Evaluating the Safety and Efficacy of VX-440 Combination Therapy in Subjects With Cystic Fibrosis
Drugs (13)
- Bamocaftor Cystic fibrosis transmembrane conductance regulator positive modulator
- Crofelemer Cystic fibrosis transmembrane conductance regulator inhibitor
- Deutivacaftor Cystic fibrosis transmembrane conductance regulator activator
- Elexacaftor Cystic fibrosis transmembrane conductance regulator positive modulator
- Galicaftor Cystic fibrosis transmembrane conductance regulator positive modulator
- Icenticaftor Cystic fibrosis transmembrane conductance regulator activator
- IOWH-032 Cystic fibrosis transmembrane conductance regulator inhibitor
- Ivacaftor Cystic fibrosis transmembrane conductance regulator activator; Cystic fibrosis transmembrane conductance regulator positive modulator
- Lumacaftor Cystic fibrosis transmembrane conductance regulator stabiliser
- Navocaftor Cystic fibrosis transmembrane conductance regulator positive modulator
- Olacaftor Cystic fibrosis transmembrane conductance regulator positive modulator
- Tezacaftor Cystic fibrosis transmembrane conductance regulator positive modulator
- Vanzacaftor Cystic fibrosis transmembrane conductance regulator positive modulator