2. Gene
  3. Cftr - cystic fibrosis transmembrane conductance regulator Gene

Cftr - cystic fibrosis transmembrane conductance regulator Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as Abcc7

Gene ID: 12638 | Gene type: protein coding

About Cftr

Chromosome 6: 18,170,686-18,322,767 forward strand.GRCm39:CM000999.3

This gene has 6 transcripts (splice variants), 215 orthologues, 10 paralogues and is associated with 116 phenotypes. Biased expression in large intestine adult (RPKM 4.3), testis adult (RPKM 3.6) and 9 other tissues.

Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This gene encodes the cystic fibrosis transmembrane regulator and a Chloride Channel that controls the regulation of Other transport pathways. Mutations in this gene have been associated with autosomal recessive disorders such as cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternative splicing of exons 4, 5, and 11 have been observed, but full-length transcripts have not yet been fully described. [provided by RefSeq, Jul 2008]

Cftr Products(1)

mRNA Protein Name
NM_021050.2 NP_066388.1 cystic fibrosis transmembrane conductance regulator
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables bicarbonate transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
21976599 MGI
enables chloride channel activity IDA
IDA: Inferred from direct assay
20231442 MGI
enables chloride channel activity IMP
IMP: Inferred from mutant phenotype
24885604 MGI
enables chloride transmembrane transporter activity IMP
IMP: Inferred from mutant phenotype
21976599 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
19033647 MGI
Biological Process GO Annotation Evidence Reference Source
involved in amelogenesis IDA
IDA: Inferred from direct assay
26403673 MGI
involved in cellular response to cAMP IDA
IDA: Inferred from direct assay
21976599 MGI
involved in chloride transmembrane transport IDA
IDA: Inferred from direct assay
20231442 MGI
involved in chloride transmembrane transport IMP
IMP: Inferred from mutant phenotype
24885604 MGI
acts upstream of or within chloride transport IGI
IGI: Inferred from genetic interaction
19033647 MGI
acts upstream of or within cholesterol biosynthetic process IMP
IMP: Inferred from mutant phenotype
17085523 MGI
acts upstream of or within cholesterol transport IMP
IMP: Inferred from mutant phenotype
17085523 MGI
acts upstream of or within establishment of localization in cell IGI
IGI: Inferred from genetic interaction
19033647 MGI
involved in intracellular pH elevation IMP
IMP: Inferred from mutant phenotype
21976599 MGI
involved in membrane hyperpolarization IMP
IMP: Inferred from mutant phenotype
21976599 MGI
involved in positive regulation of cyclic nucleotide-gated ion channel activity IMP
IMP: Inferred from mutant phenotype
24885604 MGI
involved in positive regulation of enamel mineralization IDA
IDA: Inferred from direct assay
26403673 MGI
involved in positive regulation of exocytosis IMP
IMP: Inferred from mutant phenotype
24885604 MGI
involved in positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
IMP: Inferred from mutant phenotype
24885604 MGI
NOT involved in regulation of membrane depolarization IMP
IMP: Inferred from mutant phenotype
24885604 MGI
involved in sperm capacitation IMP
IMP: Inferred from mutant phenotype
21976599 MGI
involved in vesicle docking involved in exocytosis IMP
IMP: Inferred from mutant phenotype
24885604 MGI
Cellular Component GO Annotation Evidence Reference Source
located in apical plasma membrane IDA
IDA: Inferred from direct assay
16537650 MGI
located in cytosol IDA
IDA: Inferred from direct assay
24885604 MGI
located in plasma membrane IDA
IDA: Inferred from direct assay
24885604 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Cftr Protein Structure

CFTR_protein

CFTR_protein: cl36858 (0 - 1463)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1476 a.a.
Protein Preferred Names Protein Names

cystic fibrosis transmembrane conductance regulator

ATP-binding cassette sub-family C member 7

ATP-binding cassette transporter sub-family C member 7

ATP-binding cassette, subfamily c, member 7

cAMP-dependent chloride channel

channel conductance-controlling ATPase

cystic fibrosis transmembrane conductance regulator homolog

cystic fibrosis transmembrane conductance regulator homolog

ATP-binding cassette, subfamily c, member 7

Related Agents

Approval
Bioactive Molecules (12)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-13017 Ivacaftor Agonist 99.90% Yes
HY-15206 Glibenclamide Inhibitor 99.94% Yes
HY-15448 Tezacaftor Modulator 99.94% Yes
HY-111772 Elexacaftor Modulator 99.74% Yes
HY-B1125 Glucosamine ≥98.0% Yes
HY-13262 Lumacaftor Modulator 99.85% Yes
HY-14832 Ataluren Inhibitor 99.82% Yes
HY-B0679 Lubiprostone Activator ≥98.0% Yes
HY-13017S Ivacaftor-d9 Activator 99.83% Unkown
HY-13017A Ivacaftor benzenesulfonate Agonist / Unkown
HY-13017B Ivacaftor hydrate Agonist / Unkown
HY-15206R Glibenclamide (Standard) Inhibitor / Unkown
Clinical Phase
Bioactive Molecules (12)
Cat. No. Product Name Effect
Purity Phase
HY-15206A Glibenclamide potassium Inhibitor / Phase 4
HY-106203A Crinecerfont hydrochloride Antagonist 98.06% Phase 3
HY-15448S Tezacaftor-d4 Modulator ≥97.0% Phase 3
HY-106203 Crinecerfont Antagonist / Phase 3
HY-145603 Vanzacaftor Modulator 98.06% Phase 2
HY-18337 IOWH-032 Inhibitor 99.63% Phase 2
HY-111680 Nesolicaftor Modulator 99.37% Phase 2
HY-126394 Bamocaftor Modulator 99.09% Phase 2
HY-109027 Cavosonstat Modulator 99.36% Phase 2
HY-109187A Posenacaftor sodium Modulator 99.79% Phase 2
HY-109152 Navocaftor Modulator 99.20% Phase 2
HY-125381 CFTR corrector 2 Modulator 98.92% Phase 2
Pre-clinical Phase
Bioactive Molecules (73)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-16671 CFTR(inh)-172 Inhibitor 99.25% Unkown
HY-150090 SRI-41315 Activator 99.68% Unkown
HY-18336 GlyH-101 Inhibitor 99.68% Unkown
HY-19778 (R)-BPO-27 Inhibitor 99.66% Unkown
HY-108575 Chromanol 293B Inhibitor 99.2% Unkown
HY-115878 NJH-2-057 Modulator 98.87% Unkown
HY-150089 SRI-37240 Modulator 99.21% Unkown
HY-N6818 5,​7,​4'-​Trimethoxyflavone Activator 99.65% Unkown
HY-111099 GLPG1837 Agonist 99.86% Unkown
HY-111111 Galicaftor Modulator 98.93% Yes
HY-109177 Icenticaftor Activator 99.87% Unkown
HY-14179 PPQ-102 Inhibitor 99.73% Unkown
HY-P1108A Astressin 2B TFA Antagonist 99.35% Unkown
HY-145603A (R)-Vanzacaftor Modulator 98.07% Unkown
HY-19778A BPO-27 racemate Inhibitor 98.50% Unkown
HY-112267 Olacaftor Modulator 99.26% Unkown
HY-119936 GLPG2451 Activator 99.68% Unkown
HY-15206S1 Glyburide-d3 Inhibitor 99.24% Unkown
HY-13017S3 Ivacaftor-d4 Agonist ≥96.0% Unkown
HY-12129 CP 154526 hydrochloride Antagonist 99.76% Unkown
HY-19970 KM11060 Activator 98.71% Unkown
HY-158002 IDOR-4 Modulator 98.29% Unkown
HY-152264 CFTR activator 1 Activator 99.60% Unkown
HY-P1106A K41498 TFA Antagonist 99.40% Unkown
HY-103369 PG01 Activator ≥98.0% Unkown
HY-136939 CFTR corrector 6 Activator 98.15% Unkown
HY-143344 NJH-2-056 Modulator 98.23% Unkown
HY-155742 CFTR corrector 12 Modulator 99.85% Unkown
HY-158991 I1421 Agonist 98.06% Unkown
HY-111772A (R)-Elexacaftor Modulator 99.44% Unkown
HY-135279 CFTR corrector 4 Modulator 99.60% Unkown
HY-N5101 Kobusin Activator 99.93% Unkown
HY-147249 CFTR corrector 8 Modulator 96.00% Unkown
HY-153911 H2-Gamendazole 98.20% Unkown
HY-13017S2 Ivacaftor-d18 92.92% Unkown
HY-164000 CFTR corrector 15 Modulator ≥98.0% Unkown
HY-13017S1 Ivacaftor-d19 Agonist / Unkown
HY-119179 UCCF-853 Modulator 99.93% Unkown
HY-N6818R 5,​7,​4'-​Trimethoxyflavone (Standard) Activator / Unkown
HY-109187 Posenacaftor Modulator / Unkown
HY-145126 CP-628006 Activator / Unkown
HY-133013 GLPG-3221 / Unkown
HY-15206S Glyburide-d11 Inhibitor / Unkown
HY-156522 CRF1 receptor antagonist-1 Antagonist / Unkown
HY-116806 AF-2785 Inhibitor / Unkown
HY-161895 CFTR corrector 14 Modulator / Unkown
HY-114725 VRT-532 Modulator 98.98% Unkown
HY-P10806 kCAL01 Inhibitor / Unkown
HY-153133 CFTR corrector 11 Modulator 99.80% Unkown
HY-P3597 Urocortin III (mouse) (free acid) Agonist / Unkown
HY-106203B (R)-Crinecerfont Antagonist / Unkown
HY-147315 CFTR corrector 9 Modulator 98.84% Unkown
HY-15448A (Rac)-Tezacaftor Modulator / Unkown
HY-161894 CFTR corrector 13 Modulator / Unkown
HY-112267A (R)-Olacaftor Modulator 98.07% Unkown
HY-161753 CFTR potentiator 1 Activator / Unkown
HY-126394B Bamocaftor potassium Modulator / Unkown
HY-109187B (R)-Posenacaftor sodium Inhibitor 98.96% Unkown
HY-169000 CFTR corrector 16 Modulator / Unkown
HY-117187 Corr4A Modulator / Unkown
HY-148806 Zatonacaftor Modulator / Unkown
HY-112363 Aloisine A Activator / Unkown
HY-P1108 Astressin 2B Antagonist / Unkown
HY-133569 ARN23765 Modulator / Unkown
HY-119229 VRT-325 / Unkown
HY-158144 GLPG2737 Modulator / Unkown
HY-164037 Riselcaftor Modulator / Unkown
HY-P10226 PGD97 Activator / Unkown
HY-169536 CFTR activator 2 Activator 99.54% Unkown
HY-W984122 CFTR corrector 17 Modulator 98.05% Unkown
HY-108772 Crofelemer Modulator / Unkown
HY-134385 6-PhEt-dATP / Unkown
HY-106203C Crinecerfont tosylate Antagonist / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Cftr NCBI NCBI:1080