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

Gene ID: 1080, updated on 18-Nov-2024

Summary

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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
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Genomic context

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See CFTR in Genome Data Viewer
Location:
7q31.2
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (117480025..117668665)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (118795361..118984026)
RS_2024_09 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Distribution of CFTR mutations in Eastern Hungarians: relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis. Ivady G, et al. J Cyst Fibros, 2011 May. PMID 21296036
  2. Probing conformational rescue induced by a chemical corrector of F508del-cystic fibrosis transmembrane conductance regulator (CFTR) mutant. Yu W, et al. J Biol Chem, 2011 Jul 15. PMID 21602569, Free PMC Article
  3. Characterization of a novel isolated deletion of the exon 3 within the CFTR gene: Relevance for phenotypic expression and genetic counseling. Tomaiuolo AC, et al. Clin Biochem, 2011 Jul. PMID 21536020
  4. Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. Steiner B, et al. Hum Mutat, 2011 Aug. PMID 21520337
  5. Assessment of CFTR function in homozygous R117H-7T subjects. de Nooijer RA, et al. J Cyst Fibros, 2011 Sep. PMID 21507732

See all (1000) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mutation accumulation in H. sapiens F508del CFTR countermands dN/dS type genomic analysis.
    Title: Mutation accumulation in H. sapiens F508del CFTR countermands dN/dS type genomic analysis.
  2. Loss of CFTR Reverses Senescence Hallmarks in SARS-CoV-2 Infected Bronchial Epithelial Cells.
    Title: Loss of CFTR Reverses Senescence Hallmarks in SARS-CoV-2 Infected Bronchial Epithelial Cells.
  3. Insights and considerations on CFTR variant reporting in a study of cystic fibrosis patients in Saudi Arabia CFTR 1548del G and 1549del G: Navigating the discovery of novel mutations.
    Title: Insights and considerations on CFTR variant reporting in a study of cystic fibrosis patients in Saudi Arabia CFTR 1548del G and 1549del G: Navigating the discovery of novel mutations.
  4. Hypoxia-induced cystic fibrosis transmembrane conductance regulator dysfunction is a universal mechanism underlying reduced mucociliary transport in sinusitis.
    Title: Hypoxia-induced cystic fibrosis transmembrane conductance regulator dysfunction is a universal mechanism underlying reduced mucociliary transport in sinusitis.
  5. Prime editing functionally corrects cystic fibrosis-causing CFTR mutations in human organoids and airway epithelial cells.
    Title: Prime editing functionally corrects cystic fibrosis-causing CFTR mutations in human organoids and airway epithelial cells.
  6. Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations.
    Title: Mutational spectrum of CFTR in cystic fibrosis patients with gastrointestinal and hepatobiliary manifestations.
  7. CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants.
    Title: CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants.
  8. Functional Consequences of CFTR Interactions in Cystic Fibrosis.
    Title: Functional Consequences of CFTR Interactions in Cystic Fibrosis.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (1555)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Bronchiectasis with or without elevated sweat chloride 1
MedGen: C2749757 OMIM: 211400 GeneReviews: Not available
not available
Congenital bilateral aplasia of vas deferens from CFTR mutation
MedGen: C0403814 OMIM: 277180 GeneReviews: Cystic Fibrosis
not available
Cystic fibrosis
MedGen: C0010674 OMIM: 219700 GeneReviews: Cystic Fibrosis
not available
Hereditary pancreatitis
MedGen: C0238339 OMIM: 167800 GeneReviews: PRSS1-Related Hereditary Pancreatitis, Pancreatitis Overview
not available
Ivacaftor response
MedGen: CN185459 GeneReviews: Not available
not available

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

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 14-3-3 protein binding EXP
Inferred from Experiment
more info
 PubMed 
enables 14-3-3 protein binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables 14-3-3 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 ATP-dependent H2AZ histone chaperone activity IEA
Inferred from Electronic Annotation
more info
  
enables ATP-dependent H3-H4 histone complex chaperone activity IEA
Inferred from Electronic Annotation
more info
  
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 DNA clamp loader activity IEA
Inferred from Electronic Annotation
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 chromatin extrusion motor activity IEA
Inferred from Electronic Annotation
more info
  
enables cohesin loader activity IEA
Inferred from Electronic Annotation
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 chromatin looping IEA
Inferred from Electronic Annotation
more info
  
involved_in chromatin remodeling 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

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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)

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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_2024_08

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.

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