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    Cftr CF transmembrane conductance regulator [ Rattus norvegicus (Norway rat) ]

    Gene ID: 24255, updated on 27-Nov-2024

    Summary

    Official Symbol
    Cftrprovided by RGD
    Official Full Name
    CF transmembrane conductance regulatorprovided by RGD
    Primary source
    RGD:2332
    See related
    EnsemblRapid:ENSRNOG00000055103 AllianceGenome:RGD:2332
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RGD1561193
    Summary
    Predicted to enable several functions, including 14-3-3 protein binding activity; ATP hydrolysis activity; and PDZ domain binding activity. Involved in several processes, including bicarbonate transport; cellular response to anoxia; and regulation of cell development. Located in several cellular components, including basolateral plasma membrane; early endosome; and microvillus. Used to study congenital bilateral absence of vas deferens; cystic fibrosis; dental enamel hypoplasia; duodenal ulcer; and gastric ulcer. Biomarker of autosomal recessive polycystic kidney disease; cholestasis; and salpingitis. Human ortholog(s) of this gene implicated in several diseases, including alcoholic pancreatitis; allergic bronchopulmonary aspergillosis; bronchial disease (multiple); congenital bilateral absence of vas deferens (multiple); and lung disease (multiple). Orthologous to human CFTR (CF transmembrane conductance regulator). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Testes (RPKM 31.8), Lung (RPKM 28.8) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Cftr in Genome Data Viewer
    Location:
    4q22
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 4 NC_086022.1 (47422084..47694646)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 4 NC_051339.1 (46561269..46728759)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 4 NC_005103.4 (42693263..42860679)

    Chromosome 4 - NC_086022.1Genomic Context describing neighboring genes Neighboring gene Wnt family member 2 Neighboring gene ankyrin repeat, SAM and basic leucine zipper domain containing 1 Neighboring gene U6 spliceosomal RNA Neighboring gene cortactin binding protein 2 Neighboring gene uncharacterized LOC134486734

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables 14-3-3 protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables 14-3-3 protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATP hydrolysis activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables PDZ domain binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables Sec61 translocon complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables Sec61 translocon complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables bicarbonate transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables bicarbonate transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables bicarbonate transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables chloride channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables chloride channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables chloride channel inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables chloride channel inhibitor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables chloride channel inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables chloride transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables chloride transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables intracellularly ATP-gated chloride channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables intracellularly ATP-gated chloride channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables intracellularly ATP-gated chloride channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-folding chaperone binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in amelogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in amelogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in bicarbonate transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in bicarbonate transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in bicarbonate transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bicarbonate transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in bicarbonate transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to anoxia IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to cAMP ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to cAMP ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to forskolin IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to forskolin ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to forskolin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to heat IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in cellular response to hormone stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in chloride transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in chloride transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in chloride transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chloride transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within chloride transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cholesterol biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cholesterol transport IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within cholesterol transport ISO
    Inferred from Sequence Orthology
    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 enamel mineralization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within establishment of localization in cell ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular pH elevation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intracellular pH elevation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular pH elevation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in liver regeneration IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in lung development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in membrane hyperpolarization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in membrane hyperpolarization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in membrane hyperpolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in multicellular organismal-level water homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multicellular organismal-level water homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in multicellular organismal-level water homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of type B pancreatic cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of vascular associated smooth muscle cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of cyclic nucleotide-gated ion channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of enamel mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of enamel mineralization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of establishment of Sertoli cell barrier IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of exocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of mast cell activation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of voltage-gated chloride channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    NOT involved_in regulation of membrane depolarization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to cytokine IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to endoplasmic reticulum stress IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to endoplasmic reticulum stress ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to endoplasmic reticulum stress ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to estrogen IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to peptide hormone IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to xenobiotic stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to xenobiotic stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sodium ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sperm capacitation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sperm capacitation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in sperm capacitation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transepithelial chloride transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transepithelial water transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transepithelial water transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in transepithelial water transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vasodilation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vasodilation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in vesicle docking involved in exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vesicle docking involved in exocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in water transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    located_in apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    part_of chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in early endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in early endosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in early endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in microvillus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in recycling endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in recycling endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    cystic fibrosis transmembrane conductance regulator
    Names
    ATP-binding cassette sub-family C member 7
    ATP-binding cassette transporter sub-family C member 7
    cAMP-dependent chloride channel
    channel conductance-controlling ATPase
    cystic fibrosis transmembrane conductance regulator homolog
    NP_113694.1
    XP_006236159.2
    XP_038962935.1
    XP_063141583.1
    XP_063141584.1
    XP_063141585.1

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_031506.1NP_113694.1  cystic fibrosis transmembrane conductance regulator

      See identical proteins and their annotated locations for NP_113694.1

      Status: PROVISIONAL

      Source sequence(s)
      DP000027
      UniProtKB/Swiss-Prot
      P34158, Q2IBD3
      UniProtKB/TrEMBL
      A0A8I6AKF6, A6IE40
      Related
      ENSRNOP00000094868.1, ENSRNOT00000113457.2
      Conserved Domains (1) summary
      TIGR01271
      Location:11464
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086022.1 Reference GRCr8

      Range
      47422084..47694646
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063285515.1XP_063141585.1  cystic fibrosis transmembrane conductance regulator isoform X5

    2. XM_063285514.1XP_063141584.1  cystic fibrosis transmembrane conductance regulator isoform X4

    3. XM_063285513.1XP_063141583.1  cystic fibrosis transmembrane conductance regulator isoform X2

    4. XM_006236097.5XP_006236159.2  cystic fibrosis transmembrane conductance regulator isoform X1

      UniProtKB/TrEMBL
      A0A0G2K3B1
      Related
      ENSRNOP00000072565.1, ENSRNOT00000085043.3
    5. XM_039107007.2XP_038962935.1  cystic fibrosis transmembrane conductance regulator isoform X3

      UniProtKB/Swiss-Prot
      P34158, Q2IBD3
      UniProtKB/TrEMBL
      A0A8I6AKF6, A6IE40
      Conserved Domains (1) summary
      TIGR01271
      Location:11464
      CFTR_protein; cystic fibrosis transmembrane conductor regulator (CFTR)