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CFTR Gene(Protein Coding)

Cystic Fibrosis Transmembrane Conductance Regulator

GCID:
GC07P117465
GIFtS:
70
Genes Participants
UDN Logo

Aliases for CFTR Gene

Aliases for CFTR Gene

  • Cystic Fibrosis Transmembrane Conductance Regulator 2 3 5
  • Channel Conductance-Controlling ATPase 3 4
  • CAMP-Dependent Chloride Channel 3 4
  • EC 3.6.3.49 4 61
  • ABCC7 3 4
  • Cystic Fibrosis Transmembrane Conductance Regulator, ATP-Binding Cassette (Sub-Family C, Member 7) 2
  • Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding Cassette Sub-Family C, Member 7) 3
  • ATP-Binding Cassette Sub-Family C, Member 7 2
  • ATP-Binding Cassette Sub-Family C Member 7 4
  • DJ760C5.1 3
  • CFTR/MRP 3
  • TNR-CFTR 3
  • EC 3.6.3 61
  • 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) is a Protein Coding gene. Diseases associated with CFTR include Cystic Fibrosis and Congenital Bilateral Absence Of Vas Deferens. Among its related pathways are Bacterial infections in CF airways and Paroxetine Pathway, Pharmacokinetics. GO annotations related to this gene include enzyme binding and PDZ domain binding. An important paralog of this gene is ABCC4.

UniProtKB/Swiss-Prot for CFTR Gene

  • Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810).

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

PharmGKB "VIP" Summary for CFTR Gene

No data available for CIViC summary , fRNAdb sequence ontologies and piRNA Summary for CFTR Gene

Genomics for CFTR Gene

Products:

  1. Regulatory Element

Regulatory Elements for CFTR Gene

Enhancers for CFTR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G118152 1 ENCODE 10 +686.7 686653 0.8 HDGF HNRNPUL1 ATF1 PKNOX1 ARNT TCF12 ZNF766 GATA2 ELK1 CBX5 CFTR LSM8 PIR57573 ENSG00000234826
GH07G117494 0.6 ENCODE 16 +29.4 29406 1.9 SCRT1 PKNOX1 FEZF1 ZNF404 OSR2 HIC1 PRDM6 BCL6B SCRT2 PRDM1 CFTR ENSG00000237974 GC07P117564 GC07P117565
GH07G116809 1.9 FANTOM5 Ensembl ENCODE dbSUPER 4.7 -654.3 -654314 4.5 PKNOX1 FOXA2 MLX ARNT ARID4B FEZF1 DMAP1 ZNF2 YY1 SLC30A9 MET CFTR CAPZA2 LOC100418716
GH07G117435 0.8 ENCODE 10.9 -30.1 -30113 0.2 PKNOX1 RELA ARID3A CBX5 EED FOS ETV6 RELB IKZF2 CREM CFTR ASZ1 LOC100130680
GH07G117488 0.7 ENCODE 12 +23.8 23769 2.2 NFIA CEBPB EP300 RAD21 YY1 NR2F2 JUND HNF1A ZNF316 ATF3 CFTR ENSG00000237974 GC07P117565 GC07P117564
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CFTR on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the CFTR gene promoter:

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

Genes around CFTR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CFTR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CFTR Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CFTR Gene

Proteins for CFTR Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:
    • Monomer; does not require oligomerization for channel activity (PubMed:11524016). May form oligomers in the membrane (PubMed:11524016). Interacts with SLC26A3, SLC26A6 and SHANK2 (By similarity). Interacts with SLC9A3R1 and MYO6 (PubMed:12403779, PubMed:15247260, PubMed:11304524). Interacts (via C-terminus) with GOPC (via PDZ domain); this promotes CFTR internalization and thereby decreases channel activity (PubMed:11707463, PubMed:16331976). Interacts with SLC4A7 through SLC9A3R1 (PubMed:12403779). Found in a complex with MYO5B and RAB11A (PubMed:17462998). Interacts with ANO1 (PubMed:22178883). Interacts with SLC26A8 (PubMed:22121115). Interacts with AHCYL1; the interaction increases CFTR activity (By similarity). Interacts with CSE1L (PubMed:20933420).

    Three dimensional structures from OCA and Proteopedia for CFTR Gene

    Alternative splice isoforms for CFTR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CFTR Gene

Protein Expression for CFTR Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CFTR Gene

P13569:
  • WRKAFGVI
  • FKIERGQL
  • GMQMRIA
  • LIVIGAIAVV
  • VTFISILTTG
  • IERGQLLA
  • FLIVLAL
  • SIDVDSLMRSVSR
  • SLVVLWLL
  • ETKKQSFKQTGE
  • FVLVDGG
  • ACQLEEDI
  • KVMIIEN
  • VTAFWEE
  • DVDSLMR
  • TSQQLKQLES
  • VVMENVTA
  • ERSIAIYL
  • PQIAALKEETEEEV
  • FRGLPLVHTLITVSK
  • VGIILTLAMNIM
  • SVKAYCWE
  • HKSLIFVLIWCL
  • SYAVIIT
  • LGRIIASY
  • ELKLTRK
  • LILHEGS
  • TYQIIRR
  • SKKNPKL
  • DQEIWKVA
  • QDKGNST
  • WKVADEVGL
  • GGILNRFSKDIA
  • WIMPGTIK
  • FISILTTGEGEG
  • LEREWDRE
  • FVVFLSVLPYAL
  • FFSNFSL
  • LYLGEVTK
  • WFLYLSTLRWFQMRIEMIFVIFFIAVTFISILT
  • FLVIEENKVRQYDS
  • LMRSVSRVFK
  • YYVFYIYVGVAD
  • STKPYKNGQL
  • NQGQNIHR
  • DIYSRRLSQ
  • KYRDQRA
  • LLGTPVLKDI
  • NISFSIS
  • YFYGTFSEL
  • LSNNLNKFDEGLALAHFVWI
  • AFADCTVIL
  • QAISPSDR
  • LEYNLTTT
  • RRQSVLNLMT
  • SVIEQFPG
  • LECQQFLVIE
  • KILLLDE
  • PDSEQGE
  • LLQASAF
  • LWLLGNT
  • SPLEKAS
  • VLSHGHKQL
  • GQRVGLLGRTG
  • QLLLIVIGA
  • AKYTEGGN
  • NSIRKFS
  • SIQKLLNE
  • SKLFFSW
  • VIITSTS
  • FVLIWCLV
  • SLAPQANL
  • LRKIFTTISF
  • SLLSNNLNKFDEGLALAHF
  • AFLRLLNT
  • YKDADLYLLDSPF
  • LKDINFK
  • LENISFS
  • KDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSP
  • KDLTAKY
  • KEIFESC
  • TLQWAVN
  • LLMGLIW
  • PDFSSKLMG
  • QLSKVMI
  • GLEISEEINEEDLKECF
  • RCFFWRF
  • RKNLDPY
  • GIEEDSD
  • LQAPMST
  • FSLIYKK
  • SLFRQAIS
  • LDDLLPLTIFDF
  • LLDEPSAHLDP
  • KAAYVRY
  • ILPRISVI
  • GEIQIDGVSWDS
  • PILRKGYR
  • SSRVLDKI
  • KGYRQRLE
  • TTWNTYLR
  • FCGLGFLI
  • TGSGKSTL
  • FYIYVGVADTLLA
  • RSPIFTHL
  • GKIKHSGRIS
  • AERRNSI
  • VLDKISI
  • GEAILPR
  • GKSTLLSA
  • EHRIEAML
  • TKAVQPL
  • LPLTIFDFIQL
  • DIWPSGG
  • GHKQLMCLARS
  • VLKDINF

Post-translational modifications for CFTR Gene

  • N-glycosylated.
  • Phosphorylated; cAMP treatment promotes phosphorylation and activates the channel (PubMed:12588899, PubMed:17036051, PubMed:8910473). Dephosphorylation decreases the ATPase activity (in vitro) (PubMed:8910473). Phosphorylation at PKA sites activates the channel (PubMed:10792060, PubMed:12519745, PubMed:12588899, PubMed:25330774). Phosphorylation at PKC sites enhances the response to phosphorylation by PKA (PubMed:12588899). Phosphorylated by AMPK; this inhibits channel activity (PubMed:12519745).
  • Ubiquitinated, leading to its degradation in the lysosome (PubMed:19398555). Deubiquitination by USP10 in early endosomes enhances its endocytic recycling to the cell membrane (PubMed:19398555). Ubiquitinated by RNF185 during ER stress (PubMed:24019521).
  • Ubiquitination at posLast=688688
  • Glycosylation at posLast=894894 and Asn900
  • Modification sites at PhosphoSitePlus

Other Protein References for CFTR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

Domains & Families for CFTR Gene

Gene Families for CFTR Gene

HGNC:
IUPHAR :

Protein Domains for CFTR Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CFTR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P13569

UniProtKB/Swiss-Prot:

CFTR_HUMAN :
  • Binds and hydrolyzes ATP via the two cytoplasmic ABC transporter nucleotide-binding domains (PubMed:15284228). The two ATP-binding domains interact with each other, forming a head-to-tail dimer (PubMed:17036051). Normal ATPase activity requires interaction between the two domains (PubMed:15284228). The first ABC transporter nucleotide-binding domain has no ATPase activity by itself (By similarity).
  • Belongs to the ABC transporter superfamily. ABCC family. CFTR transporter (TC 3.A.1.202) subfamily.
Domain:
  • Binds and hydrolyzes ATP via the two cytoplasmic ABC transporter nucleotide-binding domains (PubMed:15284228). The two ATP-binding domains interact with each other, forming a head-to-tail dimer (PubMed:17036051). Normal ATPase activity requires interaction between the two domains (PubMed:15284228). The first ABC transporter nucleotide-binding domain has no ATPase activity by itself (By similarity).
  • The PDZ-binding motif mediates interactions with GOPC and with the SLC4A7, SLC9A3R1/EBP50 complex.
  • The R region is intrinsically disordered (PubMed:10792060, PubMed:17660831). It mediates channel activation when it is phosphorylated, but not in the absence of phosphorylation (PubMed:10792060).
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

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  2. CRISPR
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  7. Flow Cytometry

Molecular function for CFTR Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810).

Enzyme Numbers (IUBMB) for CFTR Gene

Gene Ontology (GO) - Molecular Function for CFTR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005254 chloride channel activity IEA,IMP 19621064
GO:0005260 channel-conductance-controlling ATPase activity NAS,IEA 11707463
GO:0005515 protein binding IPI 9671706
GO:0005524 ATP binding IEA --
GO:0015106 bicarbonate transmembrane transporter activity ISS --
genes like me logo Genes that share ontologies with CFTR: view
genes like me logo Genes that share phenotypes with CFTR: view

Human Phenotype Ontology for CFTR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CFTR Gene

MGI Knock Outs for CFTR:

Animal Model Products

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Inhibitory RNA Products

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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

Apical cell membrane; Multi-pass membrane protein. Early endosome membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Recycling endosome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Note=The channel is internalized from the cell surface into an endosomal recycling compartment, from where it is recycled to the cell membrane (PubMed:17462998, PubMed:19398555, PubMed:20008117, Ref.?). In the oviduct and bronchus, detected on the apical side of epithelial cells, but not associated with cilia (PubMed:22207244). {ECO:0000269 PubMed:19398555, ECO:0000269 PubMed:20008117, ECO:0000269 PubMed:22207244, ECO:0000305 PubMed:17462998}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CFTR gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
cytosol 5
lysosome 5
golgi apparatus 5
endosome 5
cytoskeleton 2
mitochondrion 2
nucleus 2

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:0005768 endosome IEA --
GO:0005769 early endosome IDA 19398555
GO:0005789 endoplasmic reticulum 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

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 IEA --
GO:0006811 ion transport IEA --
GO:0006821 chloride transport IEA --
GO:0006904 vesicle docking involved in exocytosis IEA --
genes like me logo Genes that share ontologies with CFTR: view

Drugs & Compounds for CFTR Gene

Products:

  1. Drug

(153) Drugs for CFTR Gene - From: DrugBank, PharmGKB, ClinicalTrials, ApexBio, DGIdb, FDA Approved Drugs, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glyburide Approved Pharma Channel blocker, blocker, Target, antagonist Kir6 (KATP) channel blocker 114
Ivacaftor Approved Pharma Target, potentiator 0
Bumetanide Approved Pharma Agonist, Target, antagonist NKCC cotransporter inhibitor, Na+/2Cl-/K+ (NKCC) symporter inhibitor 17
Crofelemer Approved Pharma Target, antagonist 0
Capsaicin Approved Pharma Potentiation, Activator, activator TRPV1 receptor agonist 176

(53) Additional Compounds for CFTR Gene - From: Novoseek, IUPHAR, HMDB, and Tocris

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
 Full agonist, Agonist 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

(1) Tocris Compounds for CFTR Gene

Compound Action Cas Number
GlyH 101 Reversible, voltage-dependent CFTR chloride channel blocker 328541-79-3

(14) ApexBio Compounds for CFTR Gene

Compound Action Cas Number
CFTRinh-172 307510-92-5
DCEBIO 60563-36-2
GlyH-101 CFTR Inhibitor II 328541-79-3
IOWH-032 Potent CFTR inhibtor 1191252-49-9
Ivacaftor (VX-770) Potent CFTR inhibtor 873054-44-5
Ivacaftor benzenesulfonate CFTR Potentiator 1134822-09-5
Ivacaftor hydrate CFTR Potentiator 1134822-07-3
KM 11060 774549-97-2
Lubiprostone 136790-76-6
PG 01 853138-65-5
PPQ-102 931706-15-9
PTC124 (Ataluren) CFTR-G542X nonsense allele inhibitor 775304-57-9
VX-661 F508del CFTR corrector 1152311-62-0
VX-809 CFTR corrector 936727-05-8
genes like me logo Genes that share compounds with CFTR: view

Transcripts for CFTR Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for CFTR Gene

(5) REFSEQ mRNAs :
(87) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CFTR Gene

mRNA expression in normal human tissues for CFTR Gene
mRNA expression by BioGPS for CFTR GenemRNA expression by GTEx 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



Protein tissue co-expression partners for CFTR Gene

NURSA nuclear receptor signaling pathways regulating expression of CFTR Gene:

CFTR

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) (PubMed:22207244, PubMed:15716351). Detected in pancreatic intercalated ducts in the exocrine tissue, on epithelial cells in intralobular striated ducts in sublingual salivary glands, on apical membranes of crypt cells throughout the small and large intestine, and on the reabsorptive duct in skin sweat glands (PubMed:1284548). Detected on the equatorial segment of the sperm head (at protein level) (PubMed:19923167). Detected in nasal and bronchial superficial epithelium (PubMed:15716351).

Evidence on tissue expression from TISSUES for CFTR Gene

  • Intestine(4.2)
  • Lung(3.6)
  • Pancreas(3.4)
  • Gall bladder(2.9)
  • Blood(2.4)
  • Kidney(2.4)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CFTR Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
Thorax:
  • bronchus
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • ovary
  • rectum
  • testicle
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with CFTR: view

Primer 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 34 35
  • 99.68 (n)
cow
(Bos Taurus)
 Mammalia CFTR 34 35
  • 90.64 (n)
dog
(Canis familiaris)
 Mammalia CFTR 34 35
  • 89.35 (n)
oppossum
(Monodelphis domestica)
 Mammalia CFTR 35
  • 84 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CFTR 35
  • 82 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cftr 34 16 35
  • 81.4 (n)
rat
(Rattus norvegicus)
 Mammalia Cftr 34
  • 80.95 (n)
chicken
(Gallus gallus)
 Aves CFTR 34 35
  • 76.48 (n)
lizard
(Anolis carolinensis)
 Reptilia CFTR 35
  • 79 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cftr 34
  • 73.79 (n)
Str.13945 34
African clawed frog
(Xenopus laevis)
 Amphibia cftr-A 34
zebrafish
(Danio rerio)
 Actinopterygii cftr 34 35
  • 59.4 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG4562 35
  • 28 (a)
 OneToMany
CG5789 35
  • 28 (a)
 OneToMany
CG10505 35
  • 27 (a)
 OneToMany
CG11897 35
  • 27 (a)
 OneToMany
CG11898 35
  • 27 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea mrp-6 35
  • 24 (a)
 OneToMany
mrp-5 35
  • 22 (a)
 OneToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes YOR1 35
  • 21 (a)
 OneToOne
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 29 (a)
 OneToOne
Species where no ortholog for CFTR was found in the sources mined by GeneCards:
  • 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

Paralogs for CFTR Gene

(27) SIMAP similar genes for CFTR Gene using alignment to 52 proteins:

Pseudogenes.org Pseudogenes for CFTR Gene

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

Variants for CFTR Gene

Sequence variations from dbSNP and Humsavar for CFTR Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs113993958 Pathogenic, Cystic fibrosis (CF) [MIM:219700] 117,530,953(+) CCTAT(C/G/T)ACCCG reference, missense
rs115545701 Likely pathogenic, Cystic fibrosis (CF) [MIM:219700] 117,509,089(+) CCCTT(C/T)GGCGA reference, missense, utr-variant-5-prime
rs11971167 other, Cystic fibrosis (CF) [MIM:219700] 117,642,528(+) AGATC(A/G/T)ATGGT reference, missense
rs121908750 Pathogenic, Cystic fibrosis (CF) [MIM:219700] 117,509,140(+) ATTTA(A/G)GGGTA reference, missense
rs121908751 Pathogenic, Cystic fibrosis (CF) [MIM:219700] 117,530,899(+) TGTAG(A/G/T)AAGTC reference, missense, stop-gained

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

Variant ID Type Subtype PubMed ID
dgv1325e214 CNV loss 21293372
esv2735064 CNV deletion 23290073
esv3614714 CNV loss 21293372
esv3614715 CNV loss 21293372
esv3614720 CNV loss 21293372
esv3891197 CNV loss 25118596
nsv5917 CNV insertion 18451855
nsv608257 CNV loss 21841781
nsv7405 OTHER inversion 18451855
nsv966878 CNV duplication 23825009

Variation tolerance for CFTR Gene

Residual Variation Intolerance Score: 96.7% 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

Human Gene Mutation Database (HGMD)
CFTR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CFTR

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

Disorders for CFTR Gene

MalaCards: The human disease database

(63) 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
congenital bilateral absence of vas deferens
  • congenital bilateral absence of the vas deferens
bronchiectasis with or without elevated sweat chloride 1
  • bronchiectasis with or without elevated sweat chloride 1, modifier of
pancreatitis, hereditary
  • pancreatitis, chronic
idiopathic bronchiectasis
- elite association - COSMIC cancer census association via MalaCards
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 PubMed:9736778, ECO:0000269 Ref.109}. 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:12529365, ECO:0000269 PubMed:1284466, ECO:0000269 PubMed:1284468, ECO:0000269 PubMed:1284529, ECO:0000269 PubMed:1284530, ECO:0000269 PubMed:1284548, ECO:0000269 PubMed:15528182, ECO:0000269 PubMed:15716351, ECO:0000269 PubMed:1695717, ECO:0000269 PubMed:1699669, ECO:0000269 PubMed:1710600, ECO:0000269 PubMed:1712898, ECO:0000269 PubMed:17182731, ECO:0000269 PubMed:20008117, ECO:0000269 PubMed:20150177, ECO:0000269 PubMed:2236053, ECO:0000269 PubMed:25330774, ECO:0000269 PubMed:26846474, ECO:0000269 PubMed:28001373, ECO:0000269 PubMed:28087700, 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:8910473, 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:9804160, 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. Association analyses of genetic polymorphisms of GSTM1, GSTT1, NQO1, NAT2, LPL, PRSS1, PSTI, and CFTR with chronic alcoholic pancreatitis in Japan. (PMID: 18986377) Maruyama K. … Otsuki M. (Alcohol. Clin. Exp. Res. 2010) 3 22 46 64
  2. Connections between genetics and clinical data: Role of MCP-1, CFTR, and SPINK-1 in the setting of acute, acute recurrent, and chronic pancreatitis. (PMID: 19844201) Cavestro G.M. … Di Mario F. (Am. J. Gastroenterol. 2010) 3 22 46 64
  3. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma. (PMID: 19885835) McWilliams R.R. … Highsmith W.E. (Cancer 2010) 3 22 46 64
  4. Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants. (PMID: 19017867) Mutesa L. … Bours V. (Chest 2009) 3 22 46 64
  5. The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells. (PMID: 19398555) Bomberger J.M. … Stanton B.A. (J. Biol. Chem. 2009) 3 4 22 64

Products for CFTR Gene

Sources for CFTR Gene

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