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CFTR Gene

protein-coding   GIFtS: 72
GCID: GC07P117119

Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding...

(Previous names: cystic fibrosis transmembrane conductance regulator, ATP-binding...)
(Previous symbols: CF, ABCC7)
Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cystic Fibrosis Transmembrane Conductance Regulator (ATP-Binding
Cassette Sub-Family C, Member 7)1 2
     Member 71
ABCC71 2 3 5     ABC352
CF1 2 5     CFTR/MRP2
Channel Conductance-Controlling ATPase2 3     TNR-CFTR2
CAMP-Dependent Chloride Channel2 3     Cystic Fibrosis Transmembrane Conductance Regulator2
EC 3.6.3.493 8     dJ760C5.12
MRP72 5     ATP-Binding Cassette Sub-Family C Member 73
ATP-Binding Cassette Sub-Family C1     EC 3.6.38
Cystic Fibrosis Transmembrane Conductance Regulator, ATP-Binding Cassette
(Sub-Family C, Member 7)1
     

External Ids:    HGNC: 18841   Entrez Gene: 10802   Ensembl: ENSG000000016267   OMIM: 6024215   UniProtKB: P135693   

Export aliases for CFTR gene to outside databases

Previous GC identifers: GC07P115597 GC07P116660 GC07P116674 GC07P116713 GC07P116907 GC07P111485


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. GO annotations related to this gene include chloride channel activity and enzyme binding.

UniProtKB/Swiss-Prot: CFTR_HUMAN, P13569
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

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 (Cystic fibrosis transmembrane conductance regulator) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CFTR gene promoter:
         SRF   Sp1   AP-1   ATF-2   SRF (504 AA)   c-Jun   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CFTR promoter sequence
   Search Chromatin IP Primers for CFTR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CFTR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31.2   Ensembl cytogenetic band:  7q31.2   HGNC cytogenetic band: 7q31-q32

CFTR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CFTR gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P117119:  view genomic region     (about GC identifiers)

Start:
117,105,838 bp from pter      End:
117,356,025 bp from pter
Size:
250,188 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 116,515,451-116,704,154     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CFTR_HUMAN, P13569 (See protein sequence)
Recommended Name: Cystic fibrosis transmembrane conductance regulator  
Size: 1480 amino acids; 168142 Da
Subunit: 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
Selected PDB 3D structures from and Proteopedia for CFTR (see all 12):
1NBD (3D)        1XMI (3D)        1XMJ (3D)        2BBO (3D)        2BBS (3D)        2BBT (3D)    
Secondary accessions: Q20BG8 Q20BH2 Q2I0A1 Q2I102
Alternative splicing: 3 isoforms:  P13569-1   P13569-2   P13569-3   (Alternative acceptor site favored by mutation in an exonic splicing enhancer (ESE). Causes cystic fibrosis (CF))

Explore the universe of human proteins at neXtProt for CFTR: NX_P13569

Explore proteomics data for CFTR at MOPED

Post-translational modifications: 

  • 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 AMPK1
  • Ubiquitinated, leading to its degradation in the lysosome. Deubiquitination by USP10 in early endosomes, enhances
    its endocytic recycling1
  • Ubiquitination2 at Lys688
  • Glycosylation2 at Asn894, Asn900
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CFTR (P13569) (see all 116)
     GMQMRIA  FLIVLAL  FVLVDGG  VTAFWEE 


    See CFTR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000483.3  
    ENSEMBL proteins: 
     ENSP00000417012   ENSP00000003084   ENSP00000389119   ENSP00000419254   ENSP00000470177  
     ENSP00000403677  
    Reactome Protein details: P13569

    CFTR Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CFTR
    GenScript Custom Purified and Recombinant Proteins Services for CFTR
    Novus Biologicals CFTR Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CFTR

    CFTR Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CFTR
    R&D Systems Antibodies for CFTR
    Cell Signaling Technology (CST) Antibodies for CFTR 
    OriGene Antibodies for CFTR
    OriGene Custom Antibody Services for CFTR
    Novus Biologicals CFTR Antibodies
    Abcam antibodies for CFTR
    Cloud-Clone Corp. Antibodies for CFTR
    ThermoFisher Antibody for CFTR
    LSBio Antibodies in human, mouse, rat for CFTR

    CFTR Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for CFTR
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CFTR
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CFTR
    Cloud-Clone Corp. CLIAs for CFTR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ABCC: ATP binding cassette transporters / subfamily C
    CFTR: Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators

    IUPHAR Guide to PHARMACOLOGY protein family classification: CFTR
    CFTR

    Selected InterPro protein domains (see all 9):
     IPR003439 ABC_transporter-like
     IPR025837 CFTR_reg_dom
     IPR005291 cAMP_cl_channel
     IPR011527 ABC1_TM_dom
     IPR017871 ABC_transporter_CS

    Graphical View of Domain Structure for InterPro Entry P13569

    ProtoNet protein and cluster: P13569

    1 Blocks protein domain: IPB009147 Cystic fibrosis transmembrane conductance regulator signature

    UniProtKB/Swiss-Prot: CFTR_HUMAN, P13569
    Domain: The PDZ-binding motif mediates interactions with GOPC and with the SLC4A7, SLC9A3R1/EBP50 complex
    Similarity: Belongs to the ABC transporter superfamily. ABCC family. CFTR transporter (TC 3.A.1.202) subfamily
    Similarity: Contains 2 ABC transmembrane type-1 domains
    Similarity: Contains 2 ABC transporter domains


    CFTR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CFTR_HUMAN, P13569
    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
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Enzyme Numbers (IUBMB): EC 3.6.3.491 2 EC 3.6.32

         Gene Ontology (GO): Selected molecular function terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005224ATP-binding and phosphorylation-dependent chloride channel activity TAS10581360
    GO:0005254chloride channel activity IDA--
    GO:0005260channel-conductance-controlling ATPase activity NAS11707463
    GO:0005515protein binding IPI11707463
         
    CFTR for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 17 alleles(MGI details for Cftr) (see all 16):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  no phenotypic analysis  normal  reproductive system  respiratory system 

    CFTR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CFTR: Cftrtm1Bay Cftrtm1Unc Cftrtm1Cam Cftrtm1.1Cwr Cftrtm2Bay Cftrtm3Bay
                                                         Cftrtm1Hgu Cftrtm1Hsc

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CFTR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CFTR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CFTR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CFTR

    miRNA
    Products:
        
    miRTarBase miRNAs that target CFTR:
    hsa-mir-335-5p (MIRT017834), hsa-mir-433-3p (MIRT007361), hsa-mir-132-3p (MIRT021816), hsa-mir-509-3p (MIRT007363)

    Block miRNA regulation of human, mouse, rat CFTR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CFTR (see all 20):
    hsa-miR-607 hsa-miR-300 hsa-miR-1827 hsa-miR-515-3p hsa-miR-548c-3p hsa-miR-384 hsa-miR-433 hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidCFTR 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CFTR
    Predesigned siRNA for gene silencing in human, mouse, rat CFTR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for CFTR

    Clone
    Products:
         
    OriGene clones in human, mouse for CFTR (see all 6)
    OriGene ORF clones in mouse, rat for CFTR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CFTR (NM_000492)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CFTR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFTR

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CFTR
    Browse ESI BIO Cell Lines and PureStem Progenitors for CFTR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFTR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CFTR_HUMAN, P13569: Early endosome membrane; Multi-pass membrane protein. Cell membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    plasma membrane5
    endoplasmic reticulum3
    cytoskeleton2
    cytosol2
    extracellular2
    nucleus2
    vacuole2
    golgi apparatus1
    lysosome1
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005769early endosome IDA19398555
    GO:0005886plasma membrane TAS--
    GO:0005902microvillus IEA--
    GO:0009986cell surface IDA--

    CFTR for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CFTR About   (see all 29)  
    See pathways by source

    SuperPathContained pathways About
    1ABC-family proteins mediated transport
    ABC-family proteins mediated transport0.69
    ABC transporters0.69
    2Immune response Bacterial infections in normal airways
    Immune response Bacterial infections in normal airways0.78
    IL 1 beta dependent CFTR expression0.43
    Bacterial infections in CF airways0.78
    3Regulation of CFTR activity norm and CF
    Regulation of CFTR activity norm and CF 0.38
    Regulation of CFTR gating normal and CF 0.00
    wtCFTR and deltaF508 traffic Membrane expression norm and CF 0.38
    4Cytokine production by Th17 cells in CF
    Cytokine production by Th17 cells in CF0.72
    Cytokine production by Th17 cells in CF Mouse model 0.72
    5Regulation of degradation of deltaF508 CFTR in CF
    Regulation of degradation of wt CFTR0.59
    Regulation of degradation of deltaF508 CFTR in CF0.59

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for CFTR
        Cholera Infection
    AMPK Enzyme Complex Pathway

    1 Cell Signaling Technology (CST) Pathway for CFTR
        Ca, cAMP and Lipid Signaling

    Selected GeneGo (Thomson Reuters) Pathways for CFTR (see all 28)
        Normal wtCFTR traffic / Sorting endosome formation
    Immune response Bacterial infections in normal airways
    Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
    Mucin expression in CF via IL-6, IL-17 signaling pathways
    Inhibitory action of Lipoxins and Resolvin E1 on neutrophil functions

    1 Reactome Pathway for CFTR
        ABC-family proteins mediated transport


    5 Kegg Pathways  (Kegg details for CFTR):
        ABC transporters
    Gastric acid secretion
    Pancreatic secretion
    Bile secretion
    Vibrio cholerae infection


    CFTR for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CFTR: 
              Stress & Toxicity PathwayFinder in human mouse rat
              Osmotic Stress in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CFTR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CFTR (P135691, 2, 3 ENSP000000030844) via UniProtKB, MINT, STRING, and/or I2D (see all 218)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000237724P081073, ENSP000004063594I2D: score=1 STRING: ENSP00000406359
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006695cholesterol biosynthetic process IEA--
    GO:0006810transport TAS10581360
    GO:0006811ion transport ----
    GO:0006821chloride transport ----
    GO:0006833water transport IEA--

    CFTR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for CFTR available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DCPIB Selective blocker of VSAC/ICl, swell. Inhibits glucose-stimulated insulin release [82749-70-0]
    Chromanol 293BIKs blocker. Also blocks ICFTR[163163-23-3]
    NPPBInhibits calcium-sensitive chloride currents[107254-86-4]
    LonidamineMitochondrial hexokinase inhibitor[50264-69-2]
    CFTRinh 172 Voltage-independent, selective CFTR chloride channel blocker [307510-92-5]

    2 HMDB Compounds for CFTR    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChlorineCl2 (see all 13)16887-00-6--
    Hydrogen carbonateBicarbonate (see all 19)71-52-3--

    8 DrugBank Compounds for CFTR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    GlyburideApo-Glibenclamide (see all 4)10238-21-8targetantagonist14729151 15365090 12202948 12391048 12407077
    Adenosine-5'-Diphosphate-- 20398-34-9target--10592235
    BumetanideBumetanida [INN-Spanish] (see all 2)28395-03-1targetantagonist9886939
    CrofelemerProvir (see all 2)148465-45-6targetantagonist19808995
    IbuprofenIbuprophen (see all 3)15687-27-1targetinhibitor9710435
    Ivacaftor-- 873054-44-5targetpotentiator22293084
    Phosphoaminophosphonic Acid-Adenylate Ester-- --target--10592235
    Phosphonoserine-- --target--10592235

    Selected IUPHAR Ligands for CFTR (CFTR) (see all 17)    About this table
    LigandTypeActionAffinityPubmed IDs
    CBIQ
    ActivatorPotentiation--
    VX-770
    ActivatorPotentiation--
    genistein
    ActivatorPotentiation--
    UCCF-029
    ActivatorPotentiation--
    glibenclamide
    Channel blockerNone--
    apigenin
    ActivatorPotentiation--
    capsaicin
    ActivatorPotentiation--
    GaTx1
    Channel blockerNone--
    UCCF-853
    ActivatorPotentiation--
    UCCF-339
    ActivatorPotentiation--

    Selected Novoseek inferred chemical compound relationships for CFTR gene (see all 129)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloride 93.6 1514 9482946 (6), 7515570 (6), 7472820 (6), 7508188 (5) (see all 99)
    tg-12 83.7 6 11354633 (1), 16163053 (1)
    trypsinogen 81 73 11938439 (2), 10653140 (2), 10950058 (2), 12939655 (2) (see all 39)
    tg-13 77.2 2 11354633 (1)
    forskolin 76.6 144 9038820 (3), 7528783 (3), 8770006 (3), 9730948 (3) (see all 79)
    6-methoxy-n-(3-sulfopropyl)quinolinium 75.5 11 1715578 (1), 1282296 (1), 10037693 (1), 12409506 (1) (see all 7)
    atp 72 712 9463368 (10), 7512560 (7), 11110786 (7), 10880569 (6) (see all 99)
    phenylbutyrate 71.4 20 14583596 (1), 15191910 (1), 12069690 (1), 17890229 (1) (see all 11)
    ibmx 71.2 64 11237748 (2), 11316271 (2), 7522329 (1), 7589561 (1) (see all 35)
    dids 69.4 41 7515570 (2), 7526700 (2), 8305495 (1), 8930836 (1) (see all 25)

    1 PharmGKB related drug/compound annotation for CFTR gene    About this table
    Drug/compound PharmGKB Annotation
    ivacaftor  CA  



    CFTR for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CFTR gene: 
    NM_000492.3  

    Unigene Clusters for CFTR:

    Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
    Hs.489786  [show with all ESTs], Hs.621460 , Hs.661104
    Unigene Representative Sequences: NM_000492, S82430, X73053
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000546407 ENST00000446805 ENST00000003084(uc003vjd.3 uc011knq.2)
    ENST00000426809(uc003vje.1) ENST00000472848 ENST00000468795 ENST00000600166
    ENST00000429014 ENST00000608965 ENST00000610149 ENST00000454343
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CFTR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CFTR (see all 20):
    hsa-miR-607 hsa-miR-300 hsa-miR-1827 hsa-miR-515-3p hsa-miR-548c-3p hsa-miR-384 hsa-miR-433 hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidCFTR 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CFTR
    Predesigned siRNA for gene silencing in human, mouse, rat CFTR
    Clone
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    OriGene clones in human, mouse for CFTR (see all 6)
    OriGene ORF clones in mouse, rat for CFTR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CFTR (NM_000492)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CFTR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CFTR
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for CFTR
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    Additional mRNA sequence: 

    S64699.1 X73053.1 

    5 DOTS entries:

    DT.412783  DT.40120488  DT.95172498  DT.75104758  DT.99974713 

    Selected AceView cDNA sequences (see all 87):

    AA305061 BM055437 CB158836 S82430 AI609591 BM967351 AW182487 BF590054 
    BM142364 AI688703 BM966780 AW351685 S64699 N48341 BI964093 BX506811 
    BU579673 AI357827 BI964203 AI890417 M28668 AI829360 BV204661 BI963811 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CFTR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AATCACCTTT
    CFTR Expression
    About this image


    CFTR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Lung (Respiratory System)    fully expand to see all 7 entries
             Cilliated Cells Trachea
             Mature airway epithelial cells
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Biliary Epithelial Cells Intrahepatic Biliary Tree
             Hepatocyte-like cells
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             Early Ameloblasts Dental Enamel
     
     Pancreas (Endocrine System)
             Duct Cells Pancreatic Ducts
    CFTR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CFTR Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.489786 Hs.621460 Hs.661104

    UniProtKB/Swiss-Prot: CFTR_HUMAN, P13569
    Tissue specificity: Found on the surface of the epithelial cells that line the lungs and other organs

        Pathway & Disease-focused RT2 Profiler PCR Arrays including CFTR: 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CFTR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CFTR gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cftr1 , 5 cystic fibrosis transmembrane conductance regulator more5
    cystic fibrosis transmembrane conductance regulator1
    81.4(n)1
    78.78(a)1
      6 (8.10 cM)5
    126381  NM_021050.21  NP_066388.11 
     181706875 
    chicken
    (Gallus gallus)
    Aves CFTR1 cystic fibrosis transmembrane conductance regulator more 76.48(n)
    80.04(a)
      100049619  NM_001105666.1  NP_001099136.1 
    lizard
    (Anolis carolinensis)
    Reptilia CFTR6
    cystic fibrosis transmembrane conductance regulato...
    79(a)
    1 ↔ 1
    5(61523687-61638585)
    African clawed frog
    (Xenopus laevis)
    Amphibia cftr-A2 cystic fibrosis transmembrane conductance regulator 75.44(n)    U60209.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cftr1 cystic fibrosis transmembrane conductance regulator, more 59.4(n)
    57.09(a)
      559080  NM_001044883.1  NP_001038348.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG45626
    CG57896
    (see all 5)
    --
    28(a)
    28(a)
    (see all 5)
    many → 1
    many → 1
    (see all 5)
    3R(15692721-15701139)
    3R(20361926-20369629)
    worm
    (Caenorhabditis elegans)
    Secernentea mrp-66
    mrp-56
    Protein MRP-6 (mrp-6) mRNA, complete cds
    Protein MRP-5, isoform a (mrp-5) mRNA, complete cd...
    24(a)
    22(a)
    many → 1
    many → 1
    X(4178061-4186746) WBGene00003412
    X(14938252-14946317) WBGene00003411
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YOR16
    Plasma membrane ATP-binding cassette (ABC) transpo...
    21(a)
    1 ↔ 1
    VII(1052824-1057257) YGR281W


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CFTR gene
    Selected SIMAP similar genes for CFTR using alignment to 52 protein entries:     CFTR_HUMAN (see all proteins) (see all similar genes):
    TNR-CFTR    cftr    CTFR    CF    ABCC11    ABCC3
    ABC-transporter    ABCC8    ABCC2    ABCC12    ABCC9    DKFZp434I2115
    ABCC1    ABCB4    ABCB1    ABCC6    ABCB5    ABCB6

    CFTR for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for CFTR
    PGOHUM00000247489 PGOHUM00000247498


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CFTR (see all 3737)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1155457011,2,,4
    C,FCystic fibrosis (CF)4 --120500730(+) CCCTTC/TGGCGA 2 R W mis14Minor allele frequency- T:0.01WA NS NA EU 8029
    rs355162861,2,,4
    C,FCystic fibrosis (CF)4 --120522719(+) TCACAT/CTGGAA 2 /T /I mis14Minor allele frequency- C:0.00NA 4630
    rs1914563451,2,,4
    CCongenital bilateral absence of the vas deferens (CBAVD)4 --120528222(+) GTGAAA/GGACTT 2 R G mis10--------
    rs1506914941,2,,4
    CCystic fibrosis (CF)4 --120531778(+) AGCCTA/GTGTGA 2 Y C mis11Minor allele frequency- G:0.00EU 1291
    rs1219090111,2,,4
    CCystic fibrosis (CF)4 pathogenic1120531876(+) TCCTCC/TGGAAA 2 R W mis11Minor allele frequency- T:0.01WA 118
    rs776469041,2,,4
    C,FCystic fibrosis (CF)4 pathogenic1120551278(-) GAAGCA/C/G/
            
    TCATC
    2 V F mis11NA 4548
    rs18000971,2,,4
    C,FCystic fibrosis (CF)4 unknown1120582011(+) GAGCAA/C/GTATAC 2 I V mis14NA NS 6362
    rs2019786621,2,,4
    Cystic fibrosis (CF)4 --120583658(+) AGAAAA/GCTGAC 2 T A mis10--------
    rs2011242471,2,,4
    Cystic fibrosis (CF)4 --120583662(+) AGCTGA/GCAAAA 2 D G mis10--------
    rs1501572021,2,,4
    C,FCystic fibrosis (CF)4 --120584081(+) TCAGCG/ATGATC 2 /M /V mis11Minor allele frequency- A:0.00NA 4542

    HapMap Linkage Disequilibrium report for CFTR (117105838 - 117355838 bp, first 250kb of CFTR)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CFTR (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2735064CNV Deletion23290073
    nsv5917CNV Insertion18451855
    dgv7467n71CNV Loss21882294
    dgv7468n71CNV Loss21882294
    nsv889079CNV Loss21882294
    nsv889087CNV Loss21882294
    nsv889076CNV Loss21882294
    dgv7466n71CNV Loss21882294
    nsv889080CNV Loss21882294
    nsv889083CNV Loss21882294

    Human Gene Mutation Database (HGMD): CFTR
    Locus Specific Mutation Databases (LSDB): CFTR

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CFTR
    DNA2.0 Custom Variant and Variant Library Synthesis for CFTR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602421   
    OMIM disorders: 219700  277180  167800  211400  
    UniProtKB/Swiss-Prot: CFTR_HUMAN, P13569
  • 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 2'000 live births. Inheritance is autosomal recessive. 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. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • Selected diseases for CFTR (see all 124):    
    About MalaCards
    cystic fibrosis    bronchiectasis    mite infestation    rectal prolapse
    acute pancreatitis    sweat chloride elevation without cf    young syndrome    cftr-related hereditary pancreatitis
    congenital absence of the vas deferens    pancreatitis, idiopathic    hypertrypsinemia, neonatal    bronchiectasis with or without elevated sweat chloride 1, modifier of
    cftr-related disorders    intestinal obstruction    bronchiectasis with or without elevated sweat chloride 1    recurrent acute pancreatitis
    spermatogenic failure 4    keratoconjunctivitis sicca    kartagener syndrome    hereditary pancreatitis

    9 diseases from the University of Copenhagen DISEASES database for CFTR:
    Cystic fibrosis     Lung disease     Pancreatitis     Male infertility
    Intestinal obstruction     Infertility     Polycystic kidney disease     Genetic disorder
    Diarrhea

    CFTR for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for CFTR gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystic fibrosis 98.7 8308 12167682 (7), 17015492 (6), 15891431 (6), 17443603 (5) (see all 99)
    cbavd 94.3 320 7739684 (6), 7539210 (6), 15905293 (6), 7532150 (5) (see all 96)
    pancreatic insufficiency 88.1 38 11589722 (2), 14501614 (2), 12651880 (1), 15582124 (1) (see all 24)
    cystic fibrosis lung 84.4 10 19614608 (1), 19242412 (1), 10602380 (1), 16004694 (1) (see all 10)
    nasal epithelium 77.9 45 11042815 (3), 8573621 (3), 12167682 (2), 9472784 (2) (see all 28)
    lung diseases 77.4 194 20423679 (4), 9363079 (3), 16678503 (3), 9272738 (2) (see all 99)
    congenital absence 73.4 53 7542209 (4), 12660625 (3), 17413420 (3), 19181743 (2) (see all 32)
    chronic pancreatitis 72.9 163 12779072 (4), 17943404 (4), 11115825 (4), 14526128 (3) (see all 75)
    pancreatitis hereditary 71.6 8 10529791 (1), 10653140 (1), 11880696 (1), 15552898 (1) (see all 7)
    azoospermia 70 65 18050608 (6), 14998948 (3), 9620832 (3), 11471192 (2) (see all 34)

    GeneTests: CFTR
    GeneReviews: CFTR
    Genetic Association Database (GAD): CFTR
    Human Genome Epidemiology (HuGE) Navigator: CFTR (374 documents)

    Export disorders for CFTR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CFTR gene, integrated from 10 sources (see all 2477):
    (articles sorted by number of sources associating them with CFTR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells. (PubMed id 19398555)1, 2, 9 Bomberger J.M.... Stanton B.A. (J. Biol. Chem. 2009)
    2. The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study. (PubMed id 15238770)1, 4, 9 Felley C....Frossard J.L. (AIDS 2004)
    3. Variant cystic fibrosis phenotypes in the absence of CFTR mutations. (PubMed id 12167682)1, 4, 9 Groman J.D....Cutting G.R. (N. Engl. J. Med. 2002)
    4. CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease. (PubMed id 11095651)1, 4, 9 Persu A....Verellen-Dumoulin C. (J. Am. Soc. Nephrol. 2000)
    5. Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls. (PubMed id 15987793)1, 4, 9 Weiss F.U....Lerch M.M. (Gut 2005)
    6. Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator. (PubMed id 15247260)1, 2, 9 Swiatecka-Urban A.... Stanton B.A. (J. Biol. Chem. 2004)
    7. Risk of pancreatitis with mutation of the cystic fibrosis gene. (PubMed id 15233679)1, 4, 9 Choudari C.P....Lehman G.A. (Am. J. Gastroenterol. 2004)
    8. CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis. (PubMed id 15480987)1, 4, 9 Hirtz S....Mall M. (Gastroenterology 2004)
    9. The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3-cotransport isoform 3. (PubMed id 12403779)1, 2, 9 Park M.... Kurtz I. (J. Biol. Chem. 2002)
    10. Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations and risk for pancreatic adenocarcinoma. (PubMed id 19885835)1, 4, 9 McWilliams R.R....Highsmith W.E. (Cancer 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1080 HGNC: 1884 AceView: CFTR Ensembl:ENSG00000001626 euGenes: HUgn1080
    ECgene: CFTR Kegg: 1080 H-InvDB: CFTR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CFTR Pharmacogenomics, SNPs, Pathways
    CFTRhttp://www.genet.sickkids.on.ca/cftr/app
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CFTR[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator
    ABCMdbhttp://abcmutations.hegelab.org/proteinDetails?uniprot_id=P13569

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CFTR gene:
    Search GeneIP for patents involving CFTR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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