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Aliases for CFTR Gene

Aliases for CFTR Gene

  • Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7) 2 3
  • Channel Conductance-Controlling ATPase 3 4
  • CAMP-Dependent Chloride Channel 3 4
  • EC 3.6.3.49 4 63
  • ABCC7 3 4
  • Cystic Fibrosis Transmembrane Conductance Regulator, ATP-Binding Cassette (Sub-Family C, Member 7) 2
  • ATP-Binding Cassette Sub-Family C Member 7 4
  • ATP-Binding Cassette Sub-Family C 2
  • DJ760C5.1 3
  • Member 7 2
  • CFTR/MRP 3
  • TNR-CFTR 3
  • EC 3.6.3 63
  • ABC35 3
  • MRP7 3
  • CF 3

External Ids for CFTR Gene

Previous HGNC Symbols for CFTR Gene

  • CF
  • ABCC7

Previous GeneCards Identifiers for CFTR Gene

  • GC07P115597
  • GC07P116660
  • GC07P116674
  • GC07P116713
  • GC07P116907
  • GC07P117119
  • GC07P111485

Summaries for CFTR Gene

Entrez Gene Summary for CFTR Gene

  • This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. 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 that is involved in multi-drug resistance. The encoded protein functions as a chloride channel and controls the regulation of other transport pathways. Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens. Alternatively spliced transcript variants have been described, many of which result from mutations in this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for CFTR Gene

CFTR (Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7)) is a Protein Coding gene. Diseases associated with CFTR include cystic fibrosis and bronchiectasis. Among its related pathways are Signaling by GPCR and Infectious disease. GO annotations related to this gene include enzyme binding and PDZ domain binding.

UniProtKB/Swiss-Prot for CFTR Gene

  • Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. Can inhibit the chloride channel activity of ANO1. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.

Tocris Summary for CFTR Gene

  • Chloride channels are a family of anion-selective channels involved in the regulation of the excitability of neurons, skeletal, cardiac and smooth muscle, cell volume regulation, transepithelial salt transport and the acidification of intra- and extracellular compartments.

Gene Wiki entry for CFTR Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CFTR Gene

Genomics for CFTR Gene

Regulatory Elements for CFTR Gene

Genomic Location for CFTR Gene

Chromosome:
7
Start:
117,465,784 bp from pter
End:
117,715,971 bp from pter
Size:
250,188 bases
Orientation:
Plus strand

Genomic View for CFTR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CFTR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CFTR Gene

Proteins for CFTR Gene

  • Protein details for CFTR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13569-CFTR_HUMAN
    Recommended name:
    Cystic fibrosis transmembrane conductance regulator
    Protein Accession:
    P13569
    Secondary Accessions:
    • Q20BG8
    • Q20BH2
    • Q2I0A1
    • Q2I102

    Protein attributes for CFTR Gene

    Size:
    1480 amino acids
    Molecular mass:
    168142 Da
    Quaternary structure:
    • Interacts with SLC26A3, SLC26A6 and SHANK2 (By similarity). Interacts with SLC9A3R1, MYO6 and GOPC. Interacts with SLC4A7 through SLC9A3R1. Found in a complex with MYO5B and RAB11A. Interacts with ANO1. Interacts with SLC26A8. Interacts with AHCYL1; the interaction increases CFTR activity (By similarity).

    Three dimensional structures from OCA and Proteopedia for CFTR Gene

    Alternative splice isoforms for CFTR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFTR Gene

Proteomics data for CFTR Gene at MOPED

Post-translational modifications for CFTR Gene

  • Phosphorylated; activates the channel. It is not clear whether PKC phosphorylation itself activates the channel or permits activation by phosphorylation at PKA sites. Phosphorylated by AMPK.
  • Ubiquitinated, leading to its degradation in the lysosome. Deubiquitination by USP10 in early endosomes, enhances its endocytic recycling. Ubiquitinated by RNF185 during ER stress.
  • Ubiquitination at Lys 688
  • Glycosylation at Asn 894 and Asn 900
  • Modification sites at PhosphoSitePlus

Other Protein References for CFTR Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CFTR (CFTR)

Domains & Families for CFTR Gene

Graphical View of Domain Structure for InterPro Entry

P13569

UniProtKB/Swiss-Prot:

CFTR_HUMAN :
  • The PDZ-binding motif mediates interactions with GOPC and with the SLC4A7, SLC9A3R1/EBP50 complex
  • Belongs to the ABC transporter superfamily. ABCC family. CFTR transporter (TC 3.A.1.202) subfamily.
Domain:
  • The PDZ-binding motif mediates interactions with GOPC and with the SLC4A7, SLC9A3R1/EBP50 complex
  • Contains 2 ABC transmembrane type-1 domains.
  • Contains 2 ABC transporter domains.
Family:
  • Belongs to the ABC transporter superfamily. ABCC family. CFTR transporter (TC 3.A.1.202) subfamily.
genes like me logo Genes that share domains with CFTR: view

Function for CFTR Gene

Molecular function for CFTR Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate
UniProtKB/Swiss-Prot Function:
Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. Can inhibit the chloride channel activity of ANO1. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.

Enzyme Numbers (IUBMB) for CFTR Gene

Gene Ontology (GO) - Molecular Function for CFTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005224 ATP-binding and phosphorylation-dependent chloride channel activity TAS 10581360
GO:0005254 chloride channel activity IMP 24885604
GO:0005260 channel-conductance-controlling ATPase activity NAS 11707463
GO:0005515 protein binding IPI 9671706
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with CFTR: view
genes like me logo Genes that share phenotypes with CFTR: view

Animal Models for CFTR Gene

MGI Knock Outs for CFTR:

Animal Model Products

No data available for Transcription Factor Targets and HOMER Transcription for CFTR Gene

Localization for CFTR Gene

Subcellular locations from UniProtKB/Swiss-Prot for CFTR Gene

Early endosome membrane; Multi-pass membrane protein. Cell membrane. Note=In the oviduct and bronchus, detected on the apical side of epithelial cells, but not associated with cilia. {ECO:0000269 PubMed:22207244}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CFTR Gene COMPARTMENTS Subcellular localization image for CFTR gene
Compartment Confidence
cytosol 5
endosome 5
extracellular 5
plasma membrane 5
golgi apparatus 4
lysosome 4
vacuole 4
endoplasmic reticulum 3
cytoskeleton 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for CFTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 18570918
GO:0005765 lysosomal membrane TAS --
GO:0005769 early endosome IDA 19398555
GO:0005829 cytosol IDA 24885604
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with CFTR: view

Pathways & Interactions for CFTR Gene

genes like me logo Genes that share pathways with CFTR: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

SIGNOR curated interactions for CFTR Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CFTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006695 cholesterol biosynthetic process IEA --
GO:0006810 transport TAS 7541313
GO:0006811 ion transport --
GO:0006821 chloride transport --
GO:0006904 vesicle docking involved in exocytosis IEA --
genes like me logo Genes that share ontologies with CFTR: view

Drugs & Compounds for CFTR Gene

(107) Drugs for CFTR Gene - From: NovoSeek, HMDB, IUPHAR, DGIdb, ApexBio, DrugBank, Tocris, ClinicalTrials, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glyburide Approved Pharma Inhibition, Inhibitor, blocker, Target, antagonist Kir6 (KATP) channel blocker 100
Ivacaftor Approved Pharma Target, potentiator 0
Bumetanide Approved Pharma Inhibition, Inhibitor, Target, antagonist NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) cotransporter inhibitor 13
Crofelemer Approved Pharma Target, antagonist 0
Felodipine Approved, Investigational Pharma Potentiation, Activator, blocker 21

(61) Additional Compounds for CFTR Gene - From: HMDB, NovoSeek, Tocris, and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
SF-01
Potentiation, Activator
VX-770
Potentiation, Activator
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
Hydrogen carbonate
  • Bicarbonate
  • Bicarbonate (HCO3-)
  • Bicarbonate anion
  • Bicarbonate ion
  • Bicarbonate ion (HCO31-)
71-52-3
genes like me logo Genes that share compounds with CFTR: view

Transcripts for CFTR Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CFTR

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CFTR Gene

No ASD Table

Relevant External Links for CFTR Gene

GeneLoc Exon Structure for
CFTR
ECgene alternative splicing isoforms for
CFTR

Expression for CFTR Gene

mRNA expression in normal human tissues for CFTR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CFTR Gene

This gene is overexpressed in Pancreas (x35.1) and Colon - Transverse (x6.8).

Protein differential expression in normal tissues from HIPED for CFTR Gene

This gene is overexpressed in Plasma (25.2), Cerebrospinal fluid (17.2), Islet of Langerhans (8.2), Fetal heart (6.5), and Heart (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CFTR Gene



SOURCE GeneReport for Unigene cluster for CFTR Gene Hs.489786

mRNA Expression by UniProt/SwissProt for CFTR Gene

P13569-CFTR_HUMAN
Tissue specificity: Expressed in the respiratory airway, including bronchial epithelium, and in the female reproductive tract, including oviduct (at protein level).
genes like me logo Genes that share expression patterns with CFTR: view

Protein tissue co-expression partners for CFTR Gene

Primer Products

In Situ Assay Products

Orthologs for CFTR Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CFTR Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CFTR 35
  • 90.64 (n)
  • 90.18 (a)
CFTR 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CFTR 35
  • 89.35 (n)
  • 90.07 (a)
CFTR 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cftr 35
  • 81.4 (n)
  • 78.78 (a)
Cftr 16
Cftr 36
  • 77 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CFTR 35
  • 99.68 (n)
  • 99.66 (a)
CFTR 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cftr 35
  • 80.95 (n)
  • 78.24 (a)
oppossum
(Monodelphis domestica)
Mammalia CFTR 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CFTR 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves CFTR 35
  • 76.48 (n)
  • 80.04 (a)
CFTR 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CFTR 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cftr 35
  • 73.79 (n)
  • 78.42 (a)
Str.13945 35
African clawed frog
(Xenopus laevis)
Amphibia cftr-A 35
zebrafish
(Danio rerio)
Actinopterygii cftr 35
  • 59.4 (n)
  • 57.09 (a)
cftr 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG10505 36
  • 27 (a)
OneToMany
CG11897 36
  • 27 (a)
OneToMany
CG11898 36
  • 27 (a)
OneToMany
CG4562 36
  • 28 (a)
OneToMany
CG5789 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea mrp-5 36
  • 22 (a)
OneToMany
mrp-6 36
  • 24 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YOR1 36
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToOne
Species with no ortholog for CFTR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CFTR Gene

ENSEMBL:
Gene Tree for CFTR (if available)
TreeFam:
Gene Tree for CFTR (if available)

Paralogs for CFTR Gene

Pseudogenes.org Pseudogenes for CFTR Gene

genes like me logo Genes that share paralogs with CFTR: view

No data available for Paralogs for CFTR Gene

Variants for CFTR Gene

Sequence variations from dbSNP and Humsavar for CFTR Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs113839 -- 117,623,363(+) CAACT(C/G)TTTTC intron-variant
rs117243 -- 117,594,483(+) AAATG(A/G)GCTTT intron-variant
rs172507 -- 117,522,993(+) GTTTA(A/T)GTTGG intron-variant
rs182460 -- 117,574,397(+) GCTTC(A/G)TATTA intron-variant
rs213933 -- 117,571,000(-) TTTCC(C/T)GACTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CFTR Gene

Variant ID Type Subtype PubMed ID
nsv7405 OTHER Inversion 18451855
nsv889076 CNV Loss 21882294
dgv7466n71 CNV Loss 21882294
nsv889079 CNV Loss 21882294
nsv889080 CNV Loss 21882294
dgv7467n71 CNV Loss 21882294
nsv889083 CNV Loss 21882294
dgv7468n71 CNV Loss 21882294
nsv889087 CNV Loss 21882294
esv2735064 CNV Deletion 23290073
nsv5917 CNV Insertion 18451855

Variation tolerance for CFTR Gene

Residual Variation Intolerance Score: 96.66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.08; 68.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CFTR Gene

HapMap Linkage Disequilibrium report
CFTR
Human Gene Mutation Database (HGMD)
CFTR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CFTR Gene

Disorders for CFTR Gene

MalaCards: The human disease database

(54) MalaCards diseases for CFTR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
bronchiectasis
  • kartagener syndrome
cftr-related disorders
cftr-related hereditary pancreatitis
  • cftr-related calcific pancreatitis
congenital bilateral absence of vas deferens
  • congenital bilateral absence of the vas deferens
- elite association
Search CFTR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CFTR_HUMAN
  • Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]: Important cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens. {ECO:0000269 PubMed:10651488, ECO:0000269 PubMed:7529962, ECO:0000269 PubMed:7539342, ECO:0000269 PubMed:9067761, ECO:0000269 Ref.77}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cystic fibrosis (CF) [MIM:219700]: A common generalized disorder of the exocrine glands which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2000 live births. Inheritance is autosomal recessive. {ECO:0000269 PubMed:10094564, ECO:0000269 PubMed:1284466, ECO:0000269 PubMed:1284468, ECO:0000269 PubMed:1284529, ECO:0000269 PubMed:1284530, ECO:0000269 PubMed:1695717, ECO:0000269 PubMed:1710600, ECO:0000269 PubMed:2236053, ECO:0000269 PubMed:7504969, ECO:0000269 PubMed:7505694, ECO:0000269 PubMed:7513296, ECO:0000269 PubMed:7517264, ECO:0000269 PubMed:7520022, ECO:0000269 PubMed:7522211, ECO:0000269 PubMed:7524909, ECO:0000269 PubMed:7524913, ECO:0000269 PubMed:7525450, ECO:0000269 PubMed:7537150, ECO:0000269 PubMed:7541273, ECO:0000269 PubMed:7541510, ECO:0000269 PubMed:7543567, ECO:0000269 PubMed:7544319, ECO:0000269 PubMed:7581407, ECO:0000269 PubMed:7680525, ECO:0000269 PubMed:7683628, ECO:0000269 PubMed:7683954, ECO:0000269 PubMed:8081395, ECO:0000269 PubMed:8522333, ECO:0000269 PubMed:8723693, ECO:0000269 PubMed:8723695, ECO:0000269 PubMed:8800923, ECO:0000269 PubMed:8829633, ECO:0000269 PubMed:8956039, ECO:0000269 PubMed:9101301, ECO:0000269 PubMed:9222768, ECO:0000269 PubMed:9375855, ECO:0000269 PubMed:9401006, ECO:0000269 PubMed:9443874, ECO:0000269 PubMed:9452048, ECO:0000269 PubMed:9452054, ECO:0000269 PubMed:9452073, ECO:0000269 PubMed:9482579, ECO:0000269 PubMed:9521595, ECO:0000269 PubMed:9554753, ECO:0000269 PubMed:9736778, ECO:0000269 PubMed:9921909}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CFTR

Genetic Association Database (GAD)
CFTR
Human Genome Epidemiology (HuGE) Navigator
CFTR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CFTR
genes like me logo Genes that share disorders with CFTR: view

No data available for Genatlas for CFTR Gene

Publications for CFTR Gene

  1. Beta-adrenergic receptors couple to CFTR chloride channels of intercalated mitochondria-rich cells in the heterocellular toad skin epithelium. (PMID: 14729151) Larsen E.H. … Willumsen N.J. (Biochim. Biophys. Acta 2003) 23 25 26 67
  2. Probing an open CFTR pore with organic anion blockers. (PMID: 12407077) Zhou Z. … Hwang T.C. (J. Gen. Physiol. 2002) 23 25 26 67
  3. Effect of anion transport blockers on CFTR in the human sweat duct. (PMID: 12202948) Reddy M.M. … Quinton P.M. (J. Membr. Biol. 2002) 23 25 26 67
  4. Bumetanide blocks CFTR GCl in the native sweat duct. (PMID: 9886939) Reddy M.M. … Quinton P.M. (Am. J. Physiol. 1999) 23 25 26 67
  5. Crofelemer, an antisecretory antidiarrheal proanthocyanidin oligomer extracted from Croton lechleri, targets two distinct intestinal chloride channels. (PMID: 19808995) Tradtrantip L. … Verkman A.S. (Mol. Pharmacol. 2010) 23 25 67

Products for CFTR Gene

Sources for CFTR Gene

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