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CFTR  
    


    
      Official symbol:  CFTR
      Full name:  cystic fibrosis transmembrane conductance regulator
      Location:  7q31.2
      Also known as:  MRP7, ABC35, CFTR/MRP, dJ760C5.1, ABCC7, CF, TNR-CFTR
      Entrez ID:  1080
      Ensembl ID:  ENSG00000001626
      Summary:  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]

    

    
  Overall distribution
    
  Tissue specific distribution
    
 
  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Gscore (Amp):  0.00  
Gscore (Del):  0.00  
 
   

    
  Overall distribution
    
  Tissue specific distribution
    
 
Mscore:  0.00  
 
   

    
  Overall
    
  Tissue specific
    
 
Total fusion occurrence:  6  
 
Fusions detected in 4 cancer type(s)
 
 

    
  Overall
    
  Tissue specific
    
     
   

    
      Functional class:  Ion channel
      JensenLab PubMed score:  6397.44  (Percentile rank: 99.45%)
      PubTator score:  5925.49  (Percentile rank: 99.60%)
      Target development/druggability level:  TclinThese targets have activities in DrugCentral (ie. approved drugs) with known mechanism of action.
      Tractability (small molecule):  Clinical PrecedenceTargets with drugs in phase II or above; Pre-clinical targets
      Tractability (antibody):  Predicted Tractable - High confidenceTargets located in the plasma membrane; Targets with GO cell component terms plasma membrane or secreted

    







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