Skip Navigation
NCI banner National Cancer Institute U.S. National Institutes of Health National Cancer Institute
Genes
  • Gene Tools
Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. CFTR, Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Sequence ID:X73053
RefSeqGene ID:NG_016465
Entrez Gene ID:1080
Ensembl ID:ENSG00000001626

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer Aberrations

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1SCNN1B
CONGENITAL BILATERAL ABSENCE OF VASDEFERENS 
CYSTIC FIBROSISTGFB1
PANCREATITIS, CHRONIC, PROTECTION AGAINSTCTRC
PRSS1
PRSS2
PRSS2
PRSS2
SPINK1

Cytogenetic Location (from UniGene)

Cytogenetic Location:7q31.2Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:7: 117204722 - 117204841


Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
100061681BC156254cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_000492 NP_000483 P13569 EC 3.6.3.49  

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
M28668 AAA35680 P13569 EC 3.6.3.49
S64699 AAB27879    
S82430 AAD14390 Q99904  
BC156254 AAI56255    

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens CFTR NP_000483 M.musculus Cftr 12638 Gene Info NP_066388 79
R.norvegicus Cftr 24255   NP_113694 78

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)

BioCarta Pathways
Pathway information courtesy of BioCarta