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

    Gene ID: 1080, updated on 14-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
    mouse all
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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 Variation Viewer (GRCh37.p13)

    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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    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

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