CFTR Gene
protein-coding GIFtS: 72
GC07P116907
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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)
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Aliases & Descriptions for CFTR
(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 |
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| | Search outside databases for aliases for CFTR genePrevious GC identifers: GC07P115597 GC07P116660 GC07P116674 GC07P116713 |
Summaries for CFTR(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, P13569Function: Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporterGene Wiki entry for CFTR (Cystic_fibrosis_transmembrane_conductance_regulator) |
Genomic Location for CFTR
(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-q32CFTR 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:
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116,907,253 bp from pter |
End:
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117,095,955 bp from pter |
Size:
|
188,703 bases |
Orientation:
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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
| Proteins for CFTR
(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)
About This Section
| 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 Q2I102Alternative 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 Origene for full length recombinant human proteins expressed in human HEK293 cells 
5 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for CFTR: Assays for CFTR: | Protein
Domains/ Families for CFTR(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P13569Domain: The PDZ-binding motif mediates interactions with GOPC and with the SLC4A7, SLC9A3R1/EBP50 complexSimilarity: Belongs to the ABC transporter family. CFTR transporter (TC 3.A.1.202) subfamilySimilarity: Contains 2 ABC transmembrane type-1 domainsSimilarity: Contains 2 ABC transporter domains | Gene Function for CFTR
(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 
              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, P13569Function: Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporterCatalytic activity: ATP + H(2)O = ADP + phosphateEnzyme Number (IUBMB): EC 3.6.3.49 15/17 MGI mutant phenotypes (inferred from 17 alleles ) (MGI details for Cftr) (see all 17
):
5/9 Gene Ontology (GO) molecular function terms (links to tree view) (see all 9
): About this table | Pathways & Interactions for CFTR
(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
|
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
)About this table
5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12
): About this table
|
Drugs & Compounds for CFTR(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 |
Compounds for CFTR available from Tocris Bioscience
| Compound | Action |
CAS
number |
|---|
| Chromanol 293B | IKs blocker. Also blocks ICFTR | [163163-23-3] | | NPPB | Chloride channel blocker | [107254-86-4] | | Lonidamine | Mitochondrial hexokinase inhibitor | [50264-69-2] | | KM 11060 | Corrects F508del-CFTR trafficking | [774549-97-2] | | CFTRinh 172 | Voltage-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 |
| cpx | FA  GN   | 10656877 | About this table
|
Transcripts for CFTR(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
|
Expression for CFTR
(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 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, P13569Tissue specificity: Found on the surface of the epithelial cells that line the lungs and other organs |
Orthologs for CFTR
(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
)
About this table Species with no ortholog for CFTR
ENSEMBL Gene Tree for CFTR | Paralogs for CFTR(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for CFTR gene
- ABCC102 ABCC82 ABCC92
|
SNPs/Variants for CFTR(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for CFTR (up to first 250kb)
|
Disorders & Mutations for CFTR
(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 deferens10/95 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 Fibrosis | FA  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)
|
Medical News for CFTR(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for CFTR (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
):- The role of CFTR and SPINK-1 mutations in pancreatic disorders in HIV-positive patients: a case-control study. (PubMed id 15238770)1, 3, 6 Felley C....Frossard J.L. (2004)
- Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls. (PubMed id 15987793)1, 3, 6 Weiss F.U....Lerch M.M. (2005)
- Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator. (PubMed id 15247260)1, 3, 4 Swiatecka-Urban A.... Stanton B.A. (2004)
- 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, 3, 4 Park M.... Kurtz I. (2002)
- Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina. (PubMed id 12794695)1, 3, 6 Timmreck L.S....Reindollar R.H. (2003)
- A finger sweat chloride test for the detection of a high-risk group of chronic pancreatitis. (PubMed id 15084988)1, 3, 6 Naruse S....Hayakawa T. (2004)
- [Frequency of CFTR gene mutations in idiopathic pancreatitis] (PubMed id 12759680)1, 3, 6 Maire F....Levy P. (2003)
- Polymorphisms of SPINK1 N34S and CFTR in patients with sporadic and familial pancreatic cancer. (PubMed id 14688470)1, 3, 6 Matsubayashi H....Goggins M. (2003)
- Frequency of cystic fibrosis transmembrane conductance regulator gene mutations and 5T allele in patients with allergic bronchopulmonary aspergillosis. (PubMed id 11243954)1, 3, 6 Marchand E....Vandenplas O. (2001)
- Analysis of most common CFTR mutations in patients affected by nasal polyps. (PubMed id 16075239)1, 3, 6 Kostuch M....Oleszczuk J. (2005)
- Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis. (PubMed id 16187186)1, 3, 6 Lee K.H....Yoon Y.B. (2005)
- Mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, the cationic trypsinogen (PRSS1) gene, and the serine protease inhibitor, Kazal type 1 (SPINK1) gene in patients with alcoholic chronic pancreatitis. (PubMed id 12939655)1, 3, 6 Perri F....Andriulli A. (2003)
- A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. (PubMed id 10651488)1, 3, 4 Bienvenu T.... Kaplan J.-C. (1998)
- Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. (PubMed id 7529962)1, 3, 4 Mercier B.... Ferec C. (1995)
- Bronchiectasis in adult patients: an expression of heterozygosity for CFTR gene mutations? (PubMed id 15151509)1, 3, 6 Casals T....Estivill X. (2004)
- CFTR, PRSS1 and SPINK1 mutations in the development of pancreatitis in Brazilian patients. (PubMed id 14526128)1, 3, 6 Bernardino A.L....Zatz M. (2003)
- Germline mutations in CFTR and PSTI genes in chronic pancreatitis patients. (PubMed id 12452372)1, 3, 6 Gaia E....Carlo A. (2002)
- CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemia. (PubMed id 12120234)1, 3, 6 Gomez Lira M....Pignatti P.F. (2001)
- Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease. (PubMed id 9921909)1, 3, 4 Bombieri C.... Pignatti P.F. (1998)
- Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. (PubMed id 9554753)1, 3, 4 Leoni G.B.... Cao A. (1998)
- Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD). (PubMed id 9067761)1, 3, 4 Zielenski J.... Tsui L.-C. (1997)
- Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland. (PubMed id 12815607)3, 6 Scotet V....Le Marechal C. (2003)
- [The mutation spectrum of the CFTR gene in mucoviscidosis patients from Bashkortostan] (PubMed id 12624947)3, 6 Korytina G.F....Khusnutdinova E.K. (2003)
- [Tetranucleotide tandem repeat polymorphism of the CFTR gene intron 6B in populations of the Volga-Ural region] (PubMed id 12068629)3, 6 Korytina G.F....Khusnutdinova E.K. (2002)
- [Mutations and polymorphisms in CFTR genes in infertile men with oligospermia or azoospermia] (PubMed id 12073281)3, 6 Kusic J....Savic A. (2002)
- [Identification of mutation in the gene cystic fibrosis transmembrane regulator (CFTR) in Chilean patients with cystic fibrosis] (PubMed id 11680956)3, 6 Repetto G....Foradori A. (2001)
- Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C). (PubMed id 9482579)3, 4 Malone G.... Super M. (1998)
- Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). (PubMed id 9521595)3, 4 Onay T....Kirdar B. (1998)
- Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient. (PubMed id 9222768)3, 4 Gouya L.... Denamur E. (1997)
- Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients. (PubMed id 9375855)3, 4 Casals T.... Estivill X. (1997)
- Evidence for phosphorylation of serine 753 in CFTR using a novel metal-ion affinity resin and matrix-assisted laser desorption mass spectrometry. (PubMed id 9385646)3, 4 Neville D.C.A....Townsend R.R. (1997)
- Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations. (PubMed id 8800923)3, 4 Messaoud T.... Ferec C. (1996)
- A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. (PubMed id 8723693)3, 4 Petreska L....Efremov G.D. (1996)
- Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes. (PubMed id 8956039)3, 4 Hughes D.J....Graham C.A. (1996)
- Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. (PubMed id 7539342)3, 4 Jezequel P.... Blayau M. (1995)
- Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients. (PubMed id 7541510)3, 4 Ferec C.... Mercier B. (1995)
- Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles. (PubMed id 7541273)3, 4 Verlingue C.... Ferec C. (1995)
- Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult. (PubMed id 7581407)3, 4 Romey M.-C....Claustres M. (1995)
- Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (PubMed id 7537150)3, 4 Zielenski J.... Tsui L.-C. (1995)
- A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. (PubMed id 7524909)3, 4 Schaedel C.... Holmberg L. (1994)
- Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4). (PubMed id 7517264)3, 4 Chillon M.... Estivill X. (1994)
- Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (PubMed id 7522211)3, 4 Ghaneb N.... Goossens M. (1994)
- A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (PubMed id 7520022)3, 4 Greil I.... Rosenkranz W. (1994)
- Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. (PubMed id 7525450)3, 4 Doerk T.... Tuemmler B. (1994)
- Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype. (PubMed id 7505694)3, 4 Chillon M.... Estivill X. (1993)
- Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. (PubMed id 7680525)3, 4 Zielenski J....Morgan K. (1993)
- A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype. (PubMed id 7683954)3, 4 Nunes V.... Estivill X. (1993)
- Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene. (PubMed id 7683628)3, 4 Mercier B....Ferec C. (1993)
- Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium. (PubMed id 1284534)3, 4 Tsui L.-C. (1992)
- Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. (PubMed id 1710598)3, 4 Zielenski J.... Tsui L.-C. (1991)
- Cysteine string protein promotes proteasomal degradation of the cystic fibrosis transmembrane conductance regulator (CFTR) by increasing its interaction with the C terminus of Hsp70-interacting protein and promoting CFTR ubiquitylation. (PubMed id 19098309)1, 3 Schmidt B.Z....Frizzell R.A. (2009)
- Derlin-1 promotes the efficient degradation of the cystic fibrosis transmembrane conductance regulator (CFTR) and CFTR folding mutants. (PubMed id 16954204)1, 3 Sun F....Frizzell R.A. (2006)
- Chimeric constructs endow the human CFTR Cl- channel with the gating behavior of murine CFTR. (PubMed id 17913891)1, 3 Scott-Ward T.S....Boyd A.C. (2007)
- Functional interaction of CFTR and ENaC in sweat glands. (PubMed id 12548396)1, 3 Reddy M.M. and Quinton P.M. (2003)
- Variant cystic fibrosis phenotypes in the absence of CFTR mutations. (PubMed id 12167682)1, 3 Groman J.D....Cutting G.R. (2002)
- Endosomal SNARE proteins regulate CFTR activity and trafficking in epithelial cells. (PubMed id 18570918)1, 3 Bilan F....Thoreau V. (2008)
- The epigenetic signature of CFTR expression is co-ordinated via chromatin acetylation through a complex intronic element. (PubMed id 17848139)1, 3 Paul T....Walsh M.J. (2007)
- CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis. (PubMed id 15480987)1, 3 Hirtz S....Mall M. (2004)
- Association of cystic fibrosis transmembrane conductance regulator (CFTR) mutation/variant/haplotype and tumor necrosis factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis. (PubMed id 17981921)1, 3 Chang Y.T....Wong J.M. (2008)
- Small nuclear RNAs U11 and U12 modulate expression of TNR-CFTR mRNA in mammalian kidneys. (PubMed id 18769035)1, 3 Souza-Menezes J....Morales M.M. (2008)
- Potentiation of cystic fibrosis transmembrane conductance regulator (CFTR) Cl- currents by the chemical solvent tetrahydrofuran. (PubMed id 18989824)1, 3 Hughes L.K....Sheppard D.N. (2008)
- Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis. (PubMed id 17495464)1, 3 Kraus C....Rauh R. (2007)
- CFTR genotype as a predictor of prognosis in cystic fibrosis. (PubMed id 17099022)1, 3 McKone E.F....Aitken M.L. (2006)
- Cell-specific posttranscriptional regulation of CFTR gene expression via influence of MAPK cascades on 3'UTR part of transcripts. (PubMed id 15944206)1, 3 Baudouin-Legros M....Edelman A. (2005)
- Increased diffusional mobility of CFTR at the plasma membrane after deletion of its C-terminal PDZ binding motif. (PubMed id 14660592)1, 3 Haggie P.M....Verkman A.S. (2004)
- The Hdj-2/Hsc70 chaperone pair facilitates early steps in CFTR biogenesis. (PubMed id 10075921)1, 3 Meacham G.C....Cyr D.M. (1999)
- Release of ATP from retinal pigment epithelial cells involves both CFTR and vesicular transport. (PubMed id 15371258)1, 3 Reigada D. and Mitchell C.H. (2005)
- Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. (PubMed id 15905293)1, 3 Wu C.C....Wong L.J. (2005)
- Large genomic rearrangements in the CFTR gene contribute to CBAVD. (PubMed id 17448246)1, 3 Taulan M....Claustres M. (2007)
- A large deletion in the CFTR gene in CBAVD. (PubMed id 16481891)1, 3 Hantash F.M....Strom C.M. (2006)
- Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. (PubMed id 17003641)1, 3 Keiles S. and Kammesheidt A. (2006)
- Control of dynamic CFTR selectivity by glutamate and ATP in epithelial cells. (PubMed id 12802335)1, 3 Reddy M.M. and Quinton P.M. (2003)
- CFTR gene mutations in patients suffering from acute pancreatitis. (PubMed id 12218938)1, 3 Kostuch M....Kulczycki L. (2002)
- Correlation between CFTR gene mutations in Iranian men with congenital absence of the vas deferens and anatomical genital phenotype. (PubMed id 17673436)1, 3 Radpour R....Dizaj A.V. (2008)
- [The analysis of CFTR mutations in men with azoospermia, oligozoospermia and asthenozoospermia] (PubMed id 18050608)1, 3 Slezak R....Czemarmazowicz H. (2007)
- Mutations of the CFTR gene in Turkish patients with congenital bilateral absence of the vas deferens. (PubMed id 15070876)1, 3 Dayangac D....Dork T. (2004)
- CFTR mutations and polymorphisms in male infertility. (PubMed id 15379964)1, 3 Cuppens H. and Cassiman J.J. (2004)
- Cystic fibrosis transmembrane conductance regulator (CFTR)-mediated residual chloride secretion does not protect against early chronic Pseudomonas aeruginosa infection in F508del homozygous cystic fibrosis patients. (PubMed id 14605249)1, 3 Derichs N....Ballmann M. (2004)
- CFTR gene mutations in Japanese individuals with congenital bilateral absence of the vas deferens. (PubMed id 15463840)1, 3 Anzai C....Yoshimura K. (2003)
- Mechanism of G551D-CFTR (cystic fibrosis transmembrane conductance regulator) potentiation by a high affinity ATP analog. (PubMed id 18167357)1, 3 Bompadre S.G....Hwang T.C. (2008)
- Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene. (PubMed id 18703181)1, 3 Brugnon F....Creveaux I. (2008)
- Control of basal CFTR gene expression by bicarbonate-sensitive adenylyl cyclase in human pulmonary cells. (PubMed id 18209474)1, 3 Baudouin-Legros M....Edelman A. (2008)
- CFTR gene mutations in pancreatitis: Frequency and clinical manifestations in an Austrian patient cohort. (PubMed id 17943404)1, 3 Zoller H....Vogel W. (2007)
- Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis. (PubMed id 17539902)1, 3 Chang M.C....Wong J.M. (2007)
- The two ATP binding sites of cystic fibrosis transmembrane conductance regulator (CFTR) play distinct roles in gating kinetics and energetics. (PubMed id 16966475)1, 3 Zhou Z....Hwang T.C. (2006)
- Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens. (PubMed id 16973827)1, 3 Radpour R....Mollamohamadi S. (2006)
- Mutation analysis of CFTR gene in 70 Iranian cystic fibrosis patients. (PubMed id 17242497)1, 3 Alibakhshi R. and Zamani M. (2006)
- Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Asians with chronic pulmonary disease: a pilot study. (PubMed id 16678503)1, 3 Ngiam N.S....Goh D.Y. (2006)
- Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients. (PubMed id 17072959)1, 3 Piepoli A....Perri F. (2006)
- Na+/H+ exchanger regulatory factor isoform 1 overexpression modulates cystic fibrosis transmembrane conductance regulator (CFTR) expression and activity in human airway 16HBE14o- cells and rescues DeltaF508 CFTR functional expression in cystic fibrosis cells. (PubMed id 16203733)1, 3 Guerra L....Casavola V. (2005)
- CFTR genotypes in patients with normal or borderline sweat chloride levels. (PubMed id 12955726)1, 3 Feldmann D....Girodon E. (2003)
- Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. (PubMed id 14534336)1, 3 Wilschanski M....Kerem E. (2003)
- Plasma membrane CFTR regulates RANTES expression via its C-terminal PDZ-interacting motif. (PubMed id 12509457)1, 3 Estell K....Schwiebert L.M. (2003)
- Mutations of the CFTR gene in pancreatic disease. (PubMed id 14576497)1, 3 Pezzilli R....Gullo L. (2003)
- An intrinsic adenylate kinase activity regulates gating of the ABC transporter CFTR. (PubMed id 14697202)1, 3 Randak C. and Welsh M.J. (2003)
- Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene. (PubMed id 12227654)1, 3 Cohn J.A....Jowell P.S. (2002)
- Cystic fibrosis transmembrane regulator (CFTR) DeltaF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer. PANKRAS II Study Group. (PubMed id 11115825)1, 3 Malats N....Real F.X. (2001)
- Heterogenous spectrum of CFTR gene mutations in Indian patients with congenital absence of vas deferens. (PubMed id 19181743)1, 3 Sharma N....Prasad R. (2009)
- Analysis of the CFTR gene in Iranian cystic fibrosis patients: identification of eight novel mutations. (PubMed id 17662673)1, 3 Alibakhshi R....Cuppens H. (2008)
- Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains. (PubMed id 18769034)1, 3 Grangeia A....Sousa M. (2008)
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