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CFTR Gene

protein-coding   GIFtS: 72

GC07P116907
cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
(Previous names: cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: CF, ABCC7)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
ABC35 1, 2
ABCC7 2, 3, 5
CF 2, 5
CFTR/MRP 1, 2
EC 3.6.3.49 3
MRP7 1, 2, 5
TNR-CFTR 1, 2
dJ760C5.1 1, 2
Descriptions
ATP-binding cassette sub-family C, member 7 2
ATP-binding cassette transporter sub-family C member 7 3
Channel conductance-controlling ATPase 3
cAMP-dependent chloride channel 3
cystic fibrosis transmembrane conductance regulator 2
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) 1
External Ids
HGNC: 18841
Entrez Gene: 10802
UniProtKB: P135693
Ensembl: ENSG000000016267
Search outside databases for aliases for CFTR gene

Previous GC identifers: GC07P115597 GC07P116660 GC07P116674 GC07P116713

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for CFTR:
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]

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

Gene Wiki entry for CFTR (Cystic_fibrosis_transmembrane_conductance_regulator)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the CFTR gene  

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)

GeneLoc gene densities for chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P116907:     (about GC identifiers)

Start:
116,907,253 bp from pter
End:
117,095,955 bp from pter
Size:
188,703 bases
Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 116,515,451-116,704,154     
RefSeq DNA sequence:
NC_000007.12  NT_007933.14  NT_079596.2  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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 SHANK2 (By similarity). Interacts with SLC9A3R1, MYO6 and GOPC. Interacts
with SLC4A7 through SLC9A3R1
Subcellular location: Membrane; Multi-pass membrane protein
PDB structures from and Proteopedia :
1NBD (3D)    1XMI (3D)    1XMJ (3D)    2BBO (3D)    2BBS (3D)    2BBT (3D)    2PZE (3D)    2PZF (3D)    
2PZG (3D)    
Secondary accessions: Q20BG8 Q20BH2 Q2I0A1 Q2I102
Alternative splicing: 3 isoforms:  P13569-1   P13569-2   P13569-3   

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 sites1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_000483.3  

    ENSEMBL proteins: 
    ENSP00000003084 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Sigma-Aldrich CompoZr ZFN for CFTR  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (CFTR)
    Human Recombinant Proteins from Abnova (CFTR)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    GO:0016323 basolateral plasma membrane NAS11707463
    GO:0016324 apical plasma membrane IDA15247260
    GO:0030659 cytoplasmic vesicle membrane IEA--
    About this table

    Antibodies for CFTR: 
    Browse Antibodies Central at Invitrogen
    Millipore Mono- and Polyclonal Antibodies for the study of CFTR
    Sigma-Aldrich Antibodies for CFTR
    R&D Systems Antibodies for CFTR
    Cell Signaling Technology (CST) Antibodies for CFTR 
    Antibodies from Abcam (CFTR), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (CFTR)
    Novus Biologicals Antibodies for CFTR

    Assays for CFTR: 
    Browse Invitrogen for biochemical assays
    Millipore Kits and Assays for the Analysis of CFTR
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/7 InterPro domains/families (see all 7 ):
     IPR003439 ABC_transporter-like
     IPR005291 cAMP_cl_channel
     IPR017940 ABC_transporter_type1
     IPR017871 ABC_transporter_CS
     IPR001140 ABC_TM_transpt


       GeneDecks  CFTR for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P13569

    ProtoNet protein and cluster: P13569

    1 Blocks protein family: 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 family. CFTR transporter (TC 3.A.1.202) subfamily
    Similarity: Contains 2 ABC transmembrane type-1 domains
    Similarity: Contains 2 ABC transporter domains

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (CFTR)
    Millipore RNAi Products for the Analysis of CFTR Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (CFTR)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000492

                  Applied Biosystems Silencer® siRNAs for CFTR

                  Sigma-Aldrich siRNA and siRNA Panels for CFTR  
                         Sigma-Aldrich shRNA for CFTR  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000492
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000492
                                     untagged cDNA clone in CMV expression vector: NM_000492 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_000492

    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
    Catalytic activity: ATP + H(2)O = ADP + phosphate
    Enzyme Number (IUBMB): EC 3.6.3.49 

    15/17 MGI mutant phenotypes (inferred from 17 alleles(MGI details for Cftr) (see all 17 ):

    behavior/neurologicalcellularcraniofacialdigestive/alimentaryendocrine/exocrine gland
    growth/sizehematopoietic systemhomeostasis/metabolismimmune systemlethality-postnatal
    life span-post-weaning/agingliver/biliary systemno phenotypic analysisnormalreproductive system

    5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0005216 ion channel activity IEA--
    GO:0005224 ATP-binding and phosphorylation-dependent chloride channel activity TAS10581360
    GO:0005260 channel-conductance-controlling ATPase activity NAS11707463
    GO:0005515 protein binding IPI11707463 15247260
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    2 Millipore Pathways for CFTR
     Selected targets of CREB1
     Selected targets of HNF1

       GeneDecks  CFTR for the pathways selected above  
    About GeneDecksing

    2 Kegg Pathways  (Kegg details for CFTR):
     hsa02010 ABC transporters
     hsa05110 Vibrio cholerae infection

       GeneDecks  CFTR for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  CFTR 


    5/96 Interacting proteins for CFTR (ENSP000000030843 P135691, 2) via UniProtKB, MINT, and/or STRING (see all 96 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCAP31P515721STRING (score=.875) EBI-349854, EBI-77683
    DERL1Q9BUN81STRING (score=.992) EBI-349854, EBI-398977
    PPP2R1AP301532STRING (score=.826) MINT-62218 MINT-62222 MINT-62219 MINT-62221
    CANXP278242STRING (score=.999) MINT-1794992 MINT-1794969 MINT-14845
    BCRP112742STRING (score=.793) MINT-69537
    About this table

    5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006695 cholesterol biosynthetic process IEA--
    GO:0006811 ion transport IEA--
    GO:0007585 respiratory gaseous exchange TAS9875854
    GO:0030301 cholesterol transport IEA--
    GO:0030321 transepithelial chloride transport IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for CFTR
    Browse Small Molecules at Sigma-Aldrich

    Compounds for CFTR available from Tocris Bioscience
    CompoundAction CAS number
    Chromanol 293BIKs blocker. Also blocks ICFTR[163163-23-3]
    NPPBChloride channel blocker[107254-86-4]
    LonidamineMitochondrial hexokinase inhibitor[50264-69-2]
    KM 11060Corrects F508del-CFTR trafficking[774549-97-2]
    CFTRinh 172Voltage-independent, selective CFTR chloride channel blocker[307510-92-5]
    About this table


    10/31 Novoseek chemical compound relationships for CFTR gene (see all 31 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    chloride 93.45 1409 9482946 (6), 7515570 (6), 7472820 (6), 7508188 (5) (see all 99)
    tg-12 82.76 6 11354633 (1), 16163053 (1)
    trypsinogen 80.60 67 11938439 (2), 10653140 (2), 10950058 (2), 12939655 (2) (see all 37)
    forskolin 76.13 140 9038820 (3), 7528783 (3), 9730948 (3), 8770006 (3) (see all 77)
    6-methoxy-n-(3-sulfopropyl)quinolinium 75.98 11 1715578 (1), 1282296 (1), 10037693 (1), 12409506 (1) (see all 7)
    tg-13 72.65 2 11354633 (1)
    atp 72.05 683 9463368 (10), 7512560 (7), 11110786 (7), 10880569 (6) (see all 99)
    dids 69.86 41 7515570 (2), 7526700 (2), 8305495 (1), 8930836 (1) (see all 25)
    halide 68.94 26 9790686 (3), 1715578 (1), 7694154 (1), 12208510 (1) (see all 18)
    thiazolidinone 66.88 16 18691893 (3), 18272811 (2), 14759515 (1), 15371258 (1) (see all 8)
    About this table

    1 PharmGKB drug compound relationship for CFTR gene
    Drug compound PharmGKB Relations PubMed IDs for articles supporting these relationships
    cpxFA  GN  10656877
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (CFTR)
    Millipore RNAi Products for the Analysis of CFTR Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (CFTR)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000492

                  Sigma-Aldrich siRNA and siRNA Panels for CFTR  
                         Sigma-Aldrich shRNA for CFTR  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_000492  

    REFSEQ mRNAs for CFTR gene: 

    NM_000492.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_000492  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_000492
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_000492
                                     untagged cDNA clone in CMV expression vector: NM_000492 

    Additional cDNA sequence: 

    S64699.1 X73053.1 

    5 DOTS entries:

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

    24/87 AceView cDNA sequences (see all 87 ):

    N48341 AA305061 AW351685 BX506811 AW182487 BI964093 CB158836 BM142364 
    BM967351 S82430 BF590054 BM966780 AI609591 S64699 BM055437 AI688703 
    AI890417 M28668 AI813766 AI343596 BX497617 BI963811 T29359 AI380125 

    highest scoring ESTs for CFTR:

    M28668 AA305061 AA503064 AA515982 AI283201 AI289618 AI357827 AI380125 AI475146 AI559533 

    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


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000003084  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    CFTR expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for CFTR

    1 / 2 / 3

    11 probe-sets matching CFTR gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    36816_s_at2, 3 U95-A 1 1.00 1.00 0.97 1.41 M28668 1.00 1.00 1.00 1
    31578_at*2, 3 U95-A 1 -- -- 0.95 0.66 M96936 0.20 1.00 0.72 1

    36817_at*2, 3 U95-A 1 -- -- 0.52 0.40 M55131 0.20 1.00 0.72 1

    215702_s_at2, 3 U133-A 1 1.00 1.00 -- -- W60595 0.40 1.00 0.76 1

    234702_x_at2, 3 U133-B 1 1.00 1.00 -- -- S64699 0.60 1.00 0.82 1

    205043_at2, 3 U133-A 1 1.00 1.00 -- -- NM_000492 0.60 1.00 0.82 1

    217026_at*2, 3 U133-A NULL 0.00 0.00 -- -- M96936 0.20 1.00 0.72 1

    215702_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    234702_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    205043_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    217026_at*2 U133Plus2 NULL 0.00 0.00 -- -- -- -- -- -- --
    GeneDecks  CFTR for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CCAACTAGAA

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

    Expression variation in blood from EXPOLDB for CFTR

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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for CFTR gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    CFTR1   -- cystic fibrosis transmembrane conductance regulator more 89.37(n)
    90.07(a)
    492302  NM_001007143.1  NP_001007144.1 
    chimpanzee
    (Pan troglodytes)
    CFTR1   -- cystic fibrosis transmembrane conductance regulator more 99.68(n)
    99.66(a)
    463674  XM_519330.2  XP_519330.2 
    cow
    (Bos taurus)
    CFTR1   -- cystic fibrosis transmembrane conductance regulator more 90.67(n)
    90.13(a)
    281067  NM_174018.2  NP_776443.1 
    rat
    (Rattus norvegicus)
    Cftr1   -- cystic fibrosis transmembrane conductance regulator more 80.99(n)
    78.31(a)
    24255  XM_001062374.1  XP_001062374.1 
    mouse
    (Mus musculus)
    Cftr5
    Cftr1
    6 (3.10 cM)5
    cystic fibrosis transmembrane conductance regulator more1, 5 81.4(n)1
    78.78(a)1
    126381  NM_021050.21  NP_066388.11 
     AF1621375  AF1760955  (see all 20)
    About this table        Species with no ortholog for CFTR

    ENSEMBL Gene Tree for CFTR
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for CFTR gene
    ABCC102  ABCC82  ABCC92  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/1105 NCBI SNPs in CFTR are shown (see all 1105 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 563)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 7 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs2139501,2
    A,C,F,H,O116986769(+) TAATGA/GTGATT 1 V/M mis1 ese324Minor allele frequency- G:0.42EU EA WA NA MN CSAM 2062
    --
    rs18001001,2
    C,F,H,O117019459(+) TACACC/TGTTTC 1 R/C mis1 ese312Minor allele frequency- T:0.01NA EU EA WA MN 1164
    --
    rs10421801,2
    A,C,F,H117095649(+) TATTTC/TTATGA 1 -- ut316Minor allele frequency- T:0.15MN EU EA WA 628
    rs41487251,2
    C,F,H117094312(+) CCCACC/TGGAAC 1 R/W mis1 ese313Minor allele frequency- T:0.01EU EA WA MN 1288
    --
    rs18000981,2
    C,F,O117017690(+) TTTTGG/CATACC 1 A/G mis18Minor allele frequency- C:0.08NA MN EU EA WA 746
    rs102343291,2
    C,F,H117095441(+) GAGACA/CCACTG 1 -- ut31 ese35Minor allele frequency- C:0.02EU EA WA MN 448
    rs18005011,2
    C,F,H116907377(+) CGCCCG/CAGAGA 1 -- ut51 ese311Minor allele frequency- C:0.02NA EU EA WA 964
    --
    rs41486821,2
    C,F,H116906419(+) AGCCTT/GCCTTA 1 -- ng518Minor allele frequency- G:0.22NA EU EA WA MN 584
    rs171403081,2
    C,F,H117094723(+) TGTCAA/GTCAGC 1 -- ut318Minor allele frequency- G:0.07NA EU EA WA MN 590
    rs18001071,2
    C,F117030890(+) CACCAG/TCACCA 1 S/I mis11Minor allele frequency- T:0.05MN 184
    About this table

    HapMap Linkage Disequilibrium images for CFTR (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 602421

    UniProtKB/Swiss-Prot: CFTR_HUMAN, P13569

  • Defects in CFTR are the cause of cystic fibrosis (CF) [MIM:219700]; also known as
    mucoviscidosis. CF is the most common genetic disease in the Caucasian population, with a
    prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. CF is a common
    generalized disorder of exocrine gland function 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
  • Defects in CFTR are the cause of congenital bilateral absence of the vas deferens (CBAVD)
    [MIM:277180]. CBAVD is an 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
  • 10/95 Novoseek disease relationships for CFTR gene (see all 95 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystic fibrosis 98.68 7730 12167682 (7), 17015492 (6), 15891431 (6), 17443603 (5) (see all 99)
    cbavd 94.35 313 7739684 (6), 7539210 (6), 15905293 (6), 7532150 (5) (see all 93)
    pancreatic insufficiency 87.47 33 11589722 (2), 14501614 (2), 12651880 (1), 15582124 (1) (see all 20)
    cystic fibrosis lung 82.84 9 19242412 (1), 10602380 (1), 16004694 (1), 12560856 (1) (see all 9)
    nasal epithelium 78.29 43 11042815 (3), 8573621 (3), 12167682 (2), 9472784 (2) (see all 26)
    lung diseases 76.71 182 9363079 (3), 16678503 (3), 9272738 (2), 17443603 (2) (see all 99)
    congenital absence 73.73 52 7542209 (4), 12660625 (3), 17413420 (3), 19181743 (2) (see all 31)
    chronic pancreatitis 72.50 153 12779072 (4), 17943404 (4), 11115825 (4), 14526128 (3) (see all 71)
    pancreatitis hereditary 71.28 8 10529791 (1), 10653140 (1), 11880696 (1), 15552898 (1) (see all 7)
    azoospermia 70.20 63 18050608 (6), 14998948 (3), 9620832 (3), 11471192 (2) (see all 32)
    About this table

    1 PharmGKB disease relationship for CFTR gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Cystic FibrosisFA  GN  10656877
    About this table

    GeneTests: CFTR
    CFTR-Related Disorders

    Human Gene Mutation Database: CFTR
    Genetic Association Database: CFTR
    Human Genome Epidemiology Navigator: CFTR (302 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    100/1817 PubMed articles for CFTR gene (see all 1817 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Search String
    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, and/or H-InvDB)
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    Entrez Gene: 1080 HGNC: 1884 AceView: CFTR Ensembl:ENSG00000001626 euGenes: HUgn1080
    ECgene: CFTR H-InvDB: CFTR
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    CFTRhttp://www.genet.sickkids.on.ca/cftr/
    GeneReviewshttp://www.genetests.org/query?gene=CFTR
    Wikipedia http://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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