U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CFTR CF transmembrane conductance regulator [ Homo sapiens (human) ]

Gene ID: 1080, updated on 7-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
CFTRprovided by HGNC
Official Full Name
CF transmembrane conductance regulatorprovided by HGNC
Primary source
HGNC:HGNC:1884
See related
Ensembl:ENSG00000001626 MIM:602421; AllianceGenome:HGNC:1884
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CF; MRP7; ABC35; ABCC7; CFTR/MRP; TNR-CFTR; dJ760C5.1
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]
Expression
Biased expression in gall bladder (RPKM 28.8), colon (RPKM 22.3) and 6 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
7q31.2
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (117480025..117668665)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (118795361..118984026)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (117120079..117308719)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene CFTR -35 kb upstream enhancer Neighboring gene uncharacterized LOC105375468 Neighboring gene DNase I hypersensitive site -20.9 kb upstream of CFTR Neighboring gene ANKRD49 pseudogene 4 Neighboring gene greater CFTR locus negative regulatory element NR9 Neighboring gene CFTR promoter region Neighboring gene CFTR intron 1 enhancer Neighboring gene CFTR intron 2 DNase I hypersensitive site Neighboring gene CFTR intron 3 DNase I hypersensitive site Neighboring gene greater CFTR locus negative regulatory element CR19 Neighboring gene greater CFTR locus negative regulatory element CR20 Neighboring gene DNase I hypersensitive sites in intron 10ab of CFTR Neighboring gene DNase I hypersensitive site in intron 10c of CFTR Neighboring gene CFTR antisense RNA 1 Neighboring gene CFTR intron 11 enhancer Neighboring gene DNase I hypersensitive sites in introns 16 and 17a of CFTR Neighboring gene CFTR intron 18a DNase I hypersensitive site Neighboring gene DNase I hypersensitive site in intron 18 of CFTR Neighboring gene CFTR intron 18b DNase I hypersensitive site Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:117270281-117271480 Neighboring gene CFTR intron 19 DNase I hypersensitive site Neighboring gene CFTR intron 20 enhancer Neighboring gene CFTR intron 21 enhancer Neighboring gene CFTR intron 23 enhancer Neighboring gene DNase I hypersensitive region 5.4 to 7.4 kb downstream of CFTR Neighboring gene DNase I hypersensitive region 15.6 kb downstream of CFTR Neighboring gene CFTR +21.5 kb DNase I hypersensitive site Neighboring gene CFTR +36.6 kb downstream enhancer Neighboring gene greater CFTR locus negative regulatory element NR11 Neighboring gene CTTNBP2 intron enhancer-blocking element 7-1-1 Neighboring gene uncharacterized LOC105375469 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:117372591-117372808 Neighboring gene greater CFTR locus negative regulatory element NR12 Neighboring gene DNase I hypersensitive site 83.7 kb downstream of CFTR Neighboring gene cortactin binding protein 2 Neighboring gene greater CFTR locus negative regulatory element CR27 Neighboring gene greater CFTR locus negative regulatory element NR13 Neighboring gene greater CFTR locus negative regulatory element CR28 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:117449968-117450716 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:117450717-117451463 Neighboring gene greater CFTR locus negative regulatory element NR14 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:117499510-117499710 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:117590690-117591889 Neighboring gene greater CFTR locus negative regulatory element NR19 Neighboring gene uncharacterized LOC105375470

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Theratyping of the Rare CFTR Genotype A559T in Rectal Organoids and Nasal Cells Reveals a Relevant Response to Elexacaftor (VX-445) and Tezacaftor (VX-661) Combination. Kleinfelder K, et al. Int J Mol Sci, 2023 Jun 19. PMID 37373505, Free PMC Article
  2. Cystic Fibrosis: A Review. Ong T, et al. JAMA, 2023 Jun 6. PMID 37278811
  3. The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results. Makarova M, et al. Int J Mol Sci, 2023 Apr 27. PMID 37175647, Free PMC Article
  4. The multiple ubiquitination mechanisms in CFTR peripheral quality control. Taniguchi S, et al. Biochem Soc Trans, 2023 Jun 28. PMID 37140364
  5. Targeted locus amplification reveals heterogeneity between and within CFTR genotypes and association with CFTR function in patient-derived intestinal organoids. Lefferts JW, et al. J Cyst Fibros, 2023 May. PMID 37100706

See all (1898) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Functional Consequences of CFTR Interactions in Cystic Fibrosis.
    Title: Functional Consequences of CFTR Interactions in Cystic Fibrosis.
  2. Compound heterozygous variants in CFTR with potentially reducing ATP-binding ability identified in Chinese infertile brothers with isolated congenital bilateral absence of vas deferens.
    Title: Compound heterozygous variants in CFTR with potentially reducing ATP-binding ability identified in Chinese infertile brothers with isolated congenital bilateral absence of vas deferens.
  3. Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis.
    Title: Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis.
  4. Risk of CFTR-related disorders and cystic fibrosis in an Italian cohort of CRMS/CFSPID subjects in preschool and school age.
    Title: Risk of CFTR-related disorders and cystic fibrosis in an Italian cohort of CRMS/CFSPID subjects in preschool and school age.
  5. Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree.
    Title: Compound heterozygous mutations in CFTR causing congenital bilateral absence of the vas deferens in a Chinese pedigree.
  6. CFTR is required for zinc-mediated antibacterial defense in human macrophages.
    Title: CFTR is required for zinc-mediated antibacterial defense in human macrophages.
  7. The impact of genomic distance on enhancer-promoter interactions at the CFTR locus.
    Title: The impact of genomic distance on enhancer-promoter interactions at the CFTR locus.
  8. An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia.
    Title: An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia.
  9. CFTR expression in human salivary gland acinar cells.
    Title: CFTR expression in human salivary gland acinar cells.
  10. The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells.
    Title: The Inhibition of the Membrane-Bound Transcription Factor Site-1 Protease (MBTP1) Alleviates the p.Phe508del-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Defects in Cystic Fibrosis Cells.
Submit: New GeneRIF Correction See all GeneRIFs (1548)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of prognosis in advanced non-small cell lung cancer patients receiving platinum-based chemotherapy.
EBI GWAS Catalog
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ABC-type transporter activity IEA
Inferred from Electronic Annotation
more info
  
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables ATP hydrolysis activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables ATPase-coupled inorganic anion transmembrane transporter activity TAS
Traceable Author Statement
more info
  
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables PDZ domain binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables Sec61 translocon complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables bicarbonate transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables bicarbonate transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables chloride channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables chloride channel activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables chloride channel inhibitor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables chloride channel regulator activity TAS
Traceable Author Statement
more info
  
enables chloride transmembrane transporter activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables chloride transmembrane transporter activity TAS
Traceable Author Statement
more info
  
enables enzyme binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables intracellularly ATP-gated chloride channel activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables intracellularly ATP-gated chloride channel activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables isomerase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-folding chaperone binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in amelogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in bicarbonate transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in bicarbonate transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to cAMP ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cellular response to forskolin IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in chloride transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in chloride transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in chloride transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cholesterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cholesterol transport IEA
Inferred from Electronic Annotation
more info
  
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular pH elevation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in membrane hyperpolarization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in multicellular organismal-level water homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cyclic nucleotide-gated ion channel activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of enamel mineralization ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of exocytosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of voltage-gated chloride channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to endoplasmic reticulum stress IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in sperm capacitation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in transepithelial water transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in transmembrane transport TAS
Traceable Author Statement
more info
  
involved_in vesicle docking involved in exocytosis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi-associated vesicle membrane TAS
Traceable Author Statement
more info
  
is_active_in apical plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in apical plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
  
located_in clathrin-coated endocytic vesicle membrane TAS
Traceable Author Statement
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in early endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in early endosome membrane IEA
Inferred from Electronic Annotation
more info
  
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in endosome membrane TAS
Traceable Author Statement
more info
  
located_in lysosomal membrane TAS
Traceable Author Statement
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IMP
Inferred from Mutant Phenotype
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in recycling endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in recycling endosome membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
cystic fibrosis transmembrane conductance regulator
Names
cAMP-dependent chloride channel
channel conductance-controlling ATPase
cystic fibrosis transmembrane conductance regulating
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
NP_000483.3

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016465.4 RefSeqGene

    Range
    19180..207882
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_663

mRNA and Protein(s)

  1. NM_000492.4 → NP_000483.3  cystic fibrosis transmembrane conductance regulator

    See identical proteins and their annotated locations for NP_000483.3

    Status: REVIEWED

    Source sequence(s)
    AC000061, AC000111, M28668
    Consensus CDS
    CCDS5773.1
    UniProtKB/Swiss-Prot
    P13569, Q20BG8, Q20BH2, Q2I0A1, Q2I102
    UniProtKB/TrEMBL
    A0A8V8TNH2
    Related
    ENSP00000003084.6, ENST00000003084.11
    Conserved Domains (5) summary
    cd03289
    Location:1208 → 1480
    ABCC_CFTR2; ATP-binding cassette domain 2 of CFTR,subfamily C
    cd03291
    Location:389 → 670
    ABCC_CFTR1; ATP-binding cassette domain of the cystic fibrosis transmembrane regulator, subfamily C
    TIGR01271
    Location:1 → 1480
    CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)
    pfam00664
    Location:866 → 1147
    ABC_membrane; ABC transporter transmembrane region
    pfam14396
    Location:639 → 849
    CFTR_R; Cystic fibrosis TM conductance regulator (CFTR), regulator domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    117480025..117668665
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    118795361..118984026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P13569.3 GenPept UniProtKB/Swiss-Prot:P13569

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Other Literature Sources
Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous