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Gene : CFTR Homo sapiens

Name  ? CF transmembrane conductance regulator Cytological Location  7q31.2
Brief Description  CF transmembrane conductance regulator
Description  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]
  • synonyms:
  • dJ760C5.1,
  • OTTHUMG00000023076,
  • MRP7,
  • CFTR,
  • MRP7,
  • CF,
  • HGNC:1884,
  • NM_000492,
  • ABCC7,
  • ABC35,
  • cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7),
  • M28668,
  • ABC35,
  • CF,
  • uc003vjd.4,
  • dJ760C5.1,
  • ATP-binding cassette sub-family C, member 7,
  • ABCC7
  • identifiers:
  • 1080,
  • ENSG00000001626,
  • CFTR

Genome feature

Region: gene ? Length: 188641  
Location: 7:117480025-117668665 Cyto location: 7q31.2

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4 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



511 SNPs

5 Cross References

19 Data Sets

18 Homologues

0 Located Features

97 Rna Seq Results