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Gene : CFTR Homo sapiens

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

Genome feature

Region: gene ? Length: 188703  
Location: 7:117479963-117668665 Cyto location: 7q31.2

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> GO terms.

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Gene --> Proteins.


Gene Report --> GWAS hit


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 --> Orthologues


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Gene --> Physical and Genetic Interactions


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

Gene Ontology

Gene --> GO terms.



59 SN Ps

5 Cross References

20 Data Sets

26 Homologues

0 Located Features

90 Rna Seq Results