help  | about  | cite  | software

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:
  • NM_000492,
  • MRP7,
  • CF,
  • OTTHUMG00000023076,
  • TNR-CFTR,
  • HGNC:1884,
  • TNR-CFTR,
  • CFTR,
  • CFTR/MRP,
  • M28668,
  • dJ760C5.1,
  • MRP7,
  • CFTR/MRP,
  • CF,
  • ATP-binding cassette sub-family C, member 7,
  • ABCC7,
  • ABCC7,
  • uc003vjd.4,
  • ABC35,
  • ABC35,
  • cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7),
  • dJ760C5.1
  • identifiers:
  • 1080,
  • ENSG00000001626,
  • CFTR

Genome feature

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


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

4 Diseases

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

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

59 SN Ps

5 Cross References

20 Data Sets

26 Homologues

0 Located Features

90 Rna Seq Results