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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
  • ABCC7 3 4 6
  • Channel Conductance-Controlling ATPase 3 4
  • CAMP-Dependent Chloride Channel 3 4
  • EC 3.6.3.49 4 63
  • MRP7 3 6
  • CF 3 6
  • Cystic Fibrosis Transmembrane Conductance Regulator, ATP-Binding Cassette (Sub-Family C, Member 7) 2
  • Cystic Fibrosis Transmembrane Conductance Regulator 3
  • 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

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 idiopathic bronchiectasis. Among its related pathways are NO-dependent CFTR activation (normal and CF) and Immune response CCR3 signaling in eosinophils. GO annotations related to this gene include enzyme binding and chloride channel activity.

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

  • CFTR (cystic fibrosis transmembrane conductance regulator) is one of the five main subtypes of chloride channels. CFTR is a cAMP-regulated epithelial cell channel involved in fluid transport. It inhibits ENaC, CaCC and VRAC channels and activates ORCC and ROMK2 channels. The homozygous delta508 mutation causes impaired CFTR trafficking and leads to cystic fibrosis.

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

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.

    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 Lys688
  • Glycosylation at Asn894 and Asn900
  • Modification sites at PhosphoSitePlus

Other Protein References for CFTR Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for CFTR Gene

Gene Families for CFTR Gene

HGNC:
  • ABCC :ATP binding cassette transporters / subfamily C
  • CFTR :Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators
IUPHAR :

Graphical View of Domain Structure for InterPro Entry

P13569

UniProtKB/Swiss-Prot:

CFTR_HUMAN :
  • P13569
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 IDA 18570918
GO:0005260 channel-conductance-controlling ATPase activity NAS 11707463
GO:0005515 protein binding IPI 11707463
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

CRISPR Products

miRNA for CFTR Gene

No data available for Transcription Factor Targeting 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
endosome 5
plasma membrane 5
endoplasmic reticulum 3
cytoskeleton 2
cytosol 2
extracellular 2
nucleus 2
vacuole 2
golgi apparatus 1
lysosome 1
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:0005886 plasma membrane TAS --
GO:0005902 microvillus IEA --
genes like me logo Genes that share ontologies with CFTR: view

Pathways for CFTR Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for CFTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006200 obsolete ATP catabolic process --
GO:0006695 cholesterol biosynthetic process IEA --
GO:0006810 transport TAS 10581360
GO:0006821 chloride transport --
GO:0006833 water transport IEA --
genes like me logo Genes that share ontologies with CFTR: view

Compounds for CFTR Gene

(5) Tocris Compounds for CFTR Gene

Compound Action Cas Number
CaCCinh-A01 Calcium-activated chloride channel (CaCC) inhibitor [407587-33-1]
CFTRinh 172 Voltage-independent, selective CFTR chloride channel blocker [307510-92-5]
Chromanol 293B IKs blocker. Also blocks ICFTR [163163-23-3]
DCPIB Selective blocker of VSAC/ICl, swell. Inhibits glucose-stimulated insulin release [82749-70-0]
Eact Activator of Ca2+-activated Cl- channel transmembrane protein 16A (TMEM16A) [461000-66-8]

(2) HMDB Compounds for CFTR Gene

Compound Synonyms Cas Number PubMed IDs
Chlorine
  • Cl2
16887-00-6
Hydrogen carbonate
  • Bicarbonate
71-52-3

(8) Drugbank Compounds for CFTR Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Adenosine-5'-Diphosphate
20398-34-9 target
Bumetanide
  • Bumetanida [INN-Spanish]
28395-03-1 target antagonist
Crofelemer
  • Provir
148465-45-6 target antagonist
Glyburide
  • Apo-Glibenclamide
10238-21-8 target antagonist
Ibuprofen
  • Ibuprophen
15687-27-1 target inhibitor

(17) IUPHAR Ligand for CFTR Gene

Ligand Type Action Affinity Pubmed IDs
CBIQ Activator Potentiation
VX-770 Activator Potentiation
genistein Activator None
UCCF-029 Activator Potentiation
glibenclamide Inhibitor Inhibition
apigenin Activator Potentiation
capsaicin Activator None
GaTx1 Channel blocker None
UCCF-853 Activator Potentiation
UCCF-339 Activator Potentiation
phenylglycine-01 Activator Potentiation
NS004 Activator Potentiation
CFTRinh-172 Channel blocker None
SF-01 Activator Potentiation
nimodipine Activator Potentiation
felodipine Activator Potentiation
GlyH-101 Channel blocker None

(129) Novoseek inferred chemical compound relationships for CFTR Gene

Compound -log(P) Hits PubMed IDs
chloride 93.6 272
tg-12 83.7 2
trypsinogen 81 43
tg-13 77.2 1
forskolin 76.6 98

(1) PharmGKB related drug/compound annotations for CFTR Gene

Drug/compound Annotation
ivacaftor CA
genes like me logo Genes that share compounds with CFTR: view

Transcripts for CFTR Gene

CRISPR Products

Inhibitory RNA Products

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

Primer Products

  • OriGene qSTAR qPCR primer pairs 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 (35.1) and Colon - Transverse (6.8).

Integrated Proteomics: protein expression 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 expressions with CFTR: view

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
chimpanzee
(Pan troglodytes)
Mammalia CFTR 35
  • 99.68 (n)
  • 99.66 (a)
CFTR 36
  • 100 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia CFTR 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CFTR 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cftr 35
  • 80.95 (n)
  • 78.24 (a)
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
African clawed frog
(Xenopus laevis)
Amphibia cftr-A 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cftr 35
  • 73.79 (n)
  • 78.42 (a)
Str.13945 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
rs43035 -- 117,473,570(+) TCTAG(A/C)AAGTA intron-variant
rs43036 -- 117,474,424(+) AATTA(C/T)CACAG intron-variant
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

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

Relevant External Links for CFTR Gene

HapMap Linkage Disequilibrium report
CFTR
Human Gene Mutation Database (HGMD)
CFTR
Locus Specific Mutation Databases (LSDB)
CFTR

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

Disorders for CFTR Gene

(4) OMIM Diseases for CFTR Gene (602421)

UniProtKB/Swiss-Prot

CFTR_HUMAN
  • 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.
  • 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.

(95) Novoseek inferred disease relationships for CFTR Gene

Disease -log(P) Hits PubMed IDs
cystic fibrosis 98.7 331
cbavd 94.3 204
pancreatic insufficiency 88.1 26
cystic fibrosis lung 84.4 10
nasal epithelium 77.9 37

Relevant External Links for CFTR

GeneTests
CFTR
GeneReviews
CFTR
Genetic Association Database (GAD)
CFTR
Human Genome Epidemiology (HuGE) Navigator
CFTR
genes like me logo Genes that share disorders with CFTR: view

Publications for CFTR Gene

  1. Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. (PMID: 7529962) Mercier B. … Ferec C. (Am. J. Hum. Genet. 1995) 3 4 23
  2. A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration. (PMID: 7543567) Leoni G.B. … Rosatelli M.C. (J. Pediatr. 1995) 3 4 23
  3. Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. (PMID: 9554753) Leoni G.B. … Cao A. (Hum. Mutat. 1998) 3 4 23
  4. Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD). (PMID: 9067761) Zielenski J. … Tsui L.-C. (Hum. Mutat. 1997) 3 4 23
  5. A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. (PMID: 10651488) Bienvenu T. … Kaplan J.-C. (Hum. Mutat. 1998) 3 4 23

Products for CFTR Gene

Sources for CFTR Gene

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