Details for: CFTR
Gene ID: 1080
Gene Type: Protein-coding - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.
Symbol: CFTR
Ensembl ID: ENSG00000001626
Description: CF transmembrane conductance regulator
Selected Context(s): Overall
Cell Significance Landscape
Associated with
Significant Cells
Cell Significance Index (CSI) scores for the chosen context(s)
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CSI 25.37rCSI 27.18%PRS 80.78
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CSI 18.53rCSI 36.04%PRS 82.49
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CSI 17.1rCSI 20.81%PRS 85.98
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CSI 10.37rCSI 12.9%PRS 80.63
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CSI 10.29rCSI 12.09%PRS 81.23
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CSI 6.58rCSI 5.1%PRS 83.23
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CSI 5.38rCSI 28.23%PRS 85.14
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CSI 5.07rCSI 15.04%PRS 88.18
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CSI 5.04rCSI 7.38%PRS 84.19
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CSI 4.95rCSI 6.58%PRS 85.03
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CSI 4.85rCSI 29.09%PRS 82.24
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CSI 4.84rCSI 11.61%PRS 83.59
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CSI 4.46rCSI 12.03%PRS 84.43
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CSI 3.27rCSI 6.57%PRS 69.77
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CSI 3.1rCSI 3.24%PRS 76.98
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CSI 3.02rCSI 3.76%PRS 59.56
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CSI 2.88rCSI 3.01%PRS 77.14
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CSI 2.77rCSI 2.95%PRS 84.67
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CSI 2.63rCSI 4.09%PRS 83.8
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CSI 2.59rCSI 9.79%PRS 62.56
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CSI 2.58rCSI 18.42%PRS 77.85
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CSI 2.43rCSI 4.42%PRS 71.11
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CSI 2.43rCSI 5.55%PRS 71.17
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CSI 2.42rCSI 3.11%PRS 82.89
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CSI 2.41rCSI 3.09%PRS 69.95
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CSI 2.24rCSI 3.43%PRS 87.9
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CSI 2.18rCSI 5.41%PRS 79.23
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CSI 2.18rCSI 3.15%PRS 86.35
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CSI 2.08rCSI 6.5%PRS 63.27
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CSI 1.92rCSI 2.93%PRS 83.33
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CSI 1.75rCSI 5.99%PRS 66.04
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CSI 1.54rCSI 6.74%PRS 87.53
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CSI 1.44rCSI 34.49%PRS 59.98
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CSI 1.4rCSI 3.94%PRS 86.64
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CSI 1.38rCSI 33.3%PRS 60.56
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CSI 1.29rCSI 1.9%PRS 88.49
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CSI 0.47rCSI 5.08%PRS 87.79
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CSI 0.35rCSI 5.4%PRS 87.64
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration
Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.
Legend:
- Query Gene
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Node Color (Target Cell CSI, relative to current network):
- Very High
- High
- Medium
- Low
- Very Low
- CSI N/A
- Node Size: Proportional to Target Cell CSI magnitude
- STRING PPI Edge
- Shared Pathway Edge (ONTOLOGY)
Other Information
This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.
Genular Protein ID: 2052440746
Symbol: CFTR_HUMAN
Name: ATP-binding cassette sub-family C member 7
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 2475911
Title: Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
PubMed ID: 2475911
PubMed ID: 1710598
Title: Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
PubMed ID: 1710598
PubMed ID: 12853948
PubMed ID: 12690205
Title: Human chromosome 7: DNA sequence and biology.
PubMed ID: 12690205
PubMed ID: 1377674
Title: Phosphorylation of the cystic fibrosis transmembrane conductance regulator.
PubMed ID: 1377674
PubMed ID: 7518437
Title: Mapping of cystic fibrosis transmembrane conductance regulator membrane topology by glycosylation site insertion.
PubMed ID: 7518437
PubMed ID: 9385646
Title: 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
PubMed ID: 10766763
Title: Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element.
PubMed ID: 10766763
PubMed ID: 10792060
Title: A functional R domain from cystic fibrosis transmembrane conductance regulator is predominantly unstructured in solution.
PubMed ID: 10792060
PubMed ID: 11524016
Title: A monomer is the minimum functional unit required for channel and ATPase activity of the cystic fibrosis transmembrane conductance regulator.
PubMed ID: 11524016
DOI: 10.1021/bi0108195
PubMed ID: 11707463
Title: A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression.
PubMed ID: 11707463
PubMed ID: 12403779
Title: 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
PubMed ID: 12519745
Title: Physiological modulation of CFTR activity by AMP-activated protein kinase in polarized T84 cells.
PubMed ID: 12519745
PubMed ID: 12727866
Title: CFTR directly mediates nucleotide-regulated glutathione flux.
PubMed ID: 12727866
DOI: 10.1093/emboj/cdg194
PubMed ID: 15010471
Title: Dynamic control of cystic fibrosis transmembrane conductance regulator Cl(-)/HCO3(-) selectivity by external Cl(-).
PubMed ID: 15010471
PubMed ID: 15247260
Title: Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator.
PubMed ID: 15247260
PubMed ID: 1378801
Title: Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis.
PubMed ID: 1378801
PubMed ID: 12913074
Title: Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene.
PubMed ID: 12913074
DOI: 10.1093/hmg/ddg215
PubMed ID: 12588899
Title: Phosphorylation of protein kinase C sites in NBD1 and the R domain control CFTR channel activation by PKA.
PubMed ID: 12588899
PubMed ID: 14668433
Title: Abnormal surface liquid pH regulation by cultured cystic fibrosis bronchial epithelium.
PubMed ID: 14668433
PubMed ID: 15284228
Title: A heteromeric complex of the two nucleotide binding domains of cystic fibrosis transmembrane conductance regulator (CFTR) mediates ATPase activity.
PubMed ID: 15284228
PubMed ID: 16645176
Title: Ion and fluid transport properties of small airways in cystic fibrosis.
PubMed ID: 16645176
PubMed ID: 17036051
Title: In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer.
PubMed ID: 17036051
PubMed ID: 17462998
Title: Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells.
PubMed ID: 17462998
PubMed ID: 17434346
Title: CFTR stabilizes ENaC at the plasma membrane.
PubMed ID: 17434346
PubMed ID: 17660831
Title: CFTR regulatory region interacts with NBD1 predominantly via multiple transient helices.
PubMed ID: 17660831
DOI: 10.1038/nsmb1278
PubMed ID: 19398555
Title: The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells.
PubMed ID: 19398555
PubMed ID: 19019741
Title: Mechanism of direct bicarbonate transport by the CFTR anion channel.
PubMed ID: 19019741
PubMed ID: 19621064
Title: CFTR delivery to 25% of surface epithelial cells restores normal rates of mucus transport to human cystic fibrosis airway epithelium.
PubMed ID: 19621064
PubMed ID: 20933420
Title: Cse1l is a negative regulator of CFTR-dependent fluid secretion.
PubMed ID: 20933420
PubMed ID: 20008117
Title: Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures.
PubMed ID: 20008117
PubMed ID: 19923167
Title: CFTR is essential for sperm fertilizing capacity and is correlated with sperm quality in humans.
PubMed ID: 19923167
PubMed ID: 20068231
Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
PubMed ID: 20068231
PubMed ID: 22178883
Title: CFTR and TMEM16A are separate but functionally related Cl-channels.
PubMed ID: 22178883
DOI: 10.1159/000335765
PubMed ID: 22207244
Title: Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways.
PubMed ID: 22207244
PubMed ID: 22121115
Title: The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation.
PubMed ID: 22121115
DOI: 10.1093/hmg/ddr558
PubMed ID: 22119790
Title: Purification of CFTR for mass spectrometry analysis: identification of palmitoylation and other post-translational modifications.
PubMed ID: 22119790
PubMed ID: 24019521
Title: RNF185 is a novel E3 ligase of endoplasmic reticulum-associated degradation (ERAD) that targets cystic fibrosis transmembrane conductance regulator (CFTR).
PubMed ID: 24019521
PubMed ID: 23818989
Title: Ubiquitination and degradation of CFTR by the E3 ubiquitin ligase MARCH2 through its association with adaptor proteins CAL and STX6.
PubMed ID: 23818989
PubMed ID: 25330774
Title: The major cystic fibrosis causing mutation exhibits defective propensity for phosphorylation.
PubMed ID: 25330774
PubMed ID: 26627831
Title: Channel gating regulation by the cystic fibrosis transmembrane conductance regulator (CFTR) first cytosolic loop.
PubMed ID: 26627831
PubMed ID: 26823428
Title: Airway acidification initiates host defense abnormalities in cystic fibrosis mice.
PubMed ID: 26823428
PubMed ID: 27941075
Title: deltabetagamma-ENaC is inhibited by CFTR but stimulated by cAMP in Xenopus laevis oocytes.
PubMed ID: 27941075
PubMed ID: 28130590
Title: Expression of epithelial sodium channel (ENaC) and CFTR in the human epidermis and epidermal appendages.
PubMed ID: 28130590
PubMed ID: 27714810
Title: Essential role of CFTR in PKA-dependent phosphorylation, alkalinization, and hyperpolarization during human sperm capacitation.
PubMed ID: 27714810
DOI: 10.1002/jcp.25634
PubMed ID: 9517543
Title: A model for the nucleotide-binding domains of ABC transporters based on the large domain of aspartate aminotransferase.
PubMed ID: 9517543
DOI: 10.1002/(sici)1097-0134(19980215)30:3<275::aid-prot7>3.3.co;2-l
PubMed ID: 11304524
Title: Structural basis of the Na+/H+ exchanger regulatory factor PDZ1 interaction with the carboxyl-terminal region of the cystic fibrosis transmembrane conductance regulator.
PubMed ID: 11304524
PubMed ID: 16331976
Title: Association of the cystic fibrosis transmembrane regulator with CAL: structural features and molecular dynamics.
PubMed ID: 16331976
DOI: 10.1021/bi0516475
PubMed ID: 15528182
Title: Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure.
PubMed ID: 15528182
PubMed ID: 19944699
Title: Structure and dynamics of NBD1 from CFTR characterized using crystallography and hydrogen/deuterium exchange mass spectrometry.
PubMed ID: 19944699
PubMed ID: 20150177
Title: Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant.
PubMed ID: 20150177
PubMed ID: 21931164
Title: The cystic fibrosis transmembrane conductance regulator (CFTR): three-dimensional structure and localization of a channel gate.
PubMed ID: 21931164
PubMed ID: 26444971
Title: Binding screen for cystic fibrosis transmembrane conductance regulator correctors finds new chemical matter and yields insights into cystic fibrosis therapeutic strategy.
PubMed ID: 26444971
DOI: 10.1002/pro.2821
PubMed ID: 1284534
Title: 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
PubMed ID: 1699669
Title: Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.
PubMed ID: 1699669
PubMed ID: 1695717
Title: A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein.
PubMed ID: 1695717
DOI: 10.1038/346366a0
PubMed ID: 2236053
Title: Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
PubMed ID: 2236053
PubMed ID: 1710600
Title: Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).
PubMed ID: 1710600
PubMed ID: 1712898
Title: Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2.
PubMed ID: 1712898
PubMed ID: 1379210
Title: Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
PubMed ID: 1379210
PubMed ID: 1284466
Title: Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.
PubMed ID: 1284466
DOI: 10.1093/hmg/1.1.11
PubMed ID: 1284468
Title: A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.
PubMed ID: 1284468
DOI: 10.1093/hmg/1.2.123
PubMed ID: 1284530
Title: A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene.
PubMed ID: 1284530
DOI: 10.1093/hmg/1.6.441
PubMed ID: 1284529
Title: Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
PubMed ID: 1284529
DOI: 10.1093/hmg/1.6.439
PubMed ID: 1284548
Title: Mislocalization of delta F508 CFTR in cystic fibrosis sweat gland.
PubMed ID: 1284548
DOI: 10.1038/ng0892-321
PubMed ID: 7680525
Title: 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
PubMed ID: 7683628
Title: Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
PubMed ID: 7683628
PubMed ID: 7508414
Title: Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.
PubMed ID: 7508414
PubMed ID: 8406518
Title: Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients.
PubMed ID: 8406518
DOI: 10.1159/000154147
PubMed ID: 7683954
Title: A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.
PubMed ID: 7683954
DOI: 10.1093/hmg/2.1.79
PubMed ID: 7505694
Title: 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
PubMed ID: 7504969
Title: Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes.
PubMed ID: 7504969
PubMed ID: 7522211
Title: Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
PubMed ID: 7522211
PubMed ID: 7505767
Title: Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations.
PubMed ID: 7505767
DOI: 10.1007/bf00218916
PubMed ID: 7513296
Title: Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.
PubMed ID: 7513296
DOI: 10.1007/bf00202817
PubMed ID: 7525450
Title: Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.
PubMed ID: 7525450
DOI: 10.1007/bf00211022
PubMed ID: 7520022
Title: A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
PubMed ID: 7520022
DOI: 10.1159/000154223
PubMed ID: 7524913
Title: Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin.
PubMed ID: 7524913
DOI: 10.1093/hmg/3.6.999
PubMed ID: 7524909
Title: A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
PubMed ID: 7524909
DOI: 10.1093/hmg/3.6.1001
PubMed ID: 7517264
Title: 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
PubMed ID: 8081395
Title: A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene.
PubMed ID: 8081395
PubMed ID: 7529962
Title: Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
PubMed ID: 7529962
PubMed ID: 7539342
Title: Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.
PubMed ID: 7539342
PubMed ID: 7606851
Title: Mild cystic fibrosis disease in three Mexican delta-F508/G551S compound heterozygous siblings.
PubMed ID: 7606851
PubMed ID: 7544319
Title: Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.
PubMed ID: 7544319
DOI: 10.1007/bf00210414
PubMed ID: 8522333
Title: Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
PubMed ID: 8522333
DOI: 10.1007/bf00210305
PubMed ID: 7537150
Title: Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
PubMed ID: 7537150
PubMed ID: 7541273
Title: 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
PubMed ID: 7581407
Title: Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.
PubMed ID: 7581407
PubMed ID: 7543567
Title: A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration.
PubMed ID: 7543567
PubMed ID: 7541510
Title: Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.
PubMed ID: 7541510
PubMed ID: 8800923
Title: Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations.
PubMed ID: 8800923
DOI: 10.1159/000472165
PubMed ID: 8829633
Title: Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
PubMed ID: 8829633
DOI: 10.1002/(sici)1098-1004(1996)7:2<151::aid-humu10>3.0.co;2-1
PubMed ID: 8723693
Title: A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin.
PubMed ID: 8723693
PubMed ID: 8723695
Title: Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients.
PubMed ID: 8723695
DOI: 10.1002/(sici)1098-1004(1996)7:4<376::aid-humu18>3.0.co;2-#
PubMed ID: 8956039
Title: 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
DOI: 10.1002/(sici)1098-1004(1996)8:4<340::aid-humu7>3.0.co;2-b
PubMed ID: 8910473
Title: ATPase activity of the cystic fibrosis transmembrane conductance regulator.
PubMed ID: 8910473
PubMed ID: 9067761
Title: Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD).
PubMed ID: 9067761
DOI: 10.1002/(sici)1098-1004(1997)9:2<183::aid-humu13>3.0.co;2-z
PubMed ID: 9101301
Title: Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140.
PubMed ID: 9101301
DOI: 10.1002/(sici)1098-1004(1997)9:4<368::aid-humu13>3.0.co;2-0
PubMed ID: 9222768
Title: Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient.
PubMed ID: 9222768
DOI: 10.1002/(sici)1098-1004(1997)10:1<86::aid-humu15>3.0.co;2-w
PubMed ID: 9375855
Title: 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
DOI: 10.1002/(sici)1098-1004(1997)10:5<387::aid-humu9>3.0.co;2-c
PubMed ID: 9401006
Title: Cystic fibrosis mutation frequencies in upstate New York.
PubMed ID: 9401006
DOI: 10.1002/(sici)1098-1004(1997)10:6<436::aid-humu4>3.0.co;2-b
PubMed ID: 9443874
Title: Cystic fibrosis transmembrane-conductance regulator mutations among African Americans.
PubMed ID: 9443874
DOI: 10.1086/301681
PubMed ID: 9804160
Title: Characterization of mutations located in exon 18 of the CFTR gene.
PubMed ID: 9804160
PubMed ID: 9521595
Title: Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).
PubMed ID: 9521595
PubMed ID: 9921909
Title: Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.
PubMed ID: 9921909
PubMed ID: 9736778
Title: Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
PubMed ID: 9736778
PubMed ID: 9482579
Title: 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
DOI: 10.1002/(sici)1098-1004(1998)11:2<152::aid-humu8>3.0.co;2-l
PubMed ID: 9554753
Title: Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
PubMed ID: 9554753
PubMed ID: 9452048
Title: Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121+1G-->A in four French patients.
PubMed ID: 9452048
PubMed ID: 9452054
Title: Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.
PubMed ID: 9452054
PubMed ID: 9452073
Title: A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene.
PubMed ID: 9452073
PubMed ID: 10651488
Title: 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
PubMed ID: 9507391
Title: P67L: a cystic fibrosis allele with mild effects found at high frequency in the Scottish population.
PubMed ID: 9507391
DOI: 10.1136/jmg.35.2.122
PubMed ID: 10066035
Title: Analysis of infertile brothers with congenital bilateral absence of vas deferens for mutations in the CFTR gene.
PubMed ID: 10066035
PubMed ID: 10094564
Title: Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement.
PubMed ID: 10094564
DOI: 10.1002/(sici)1098-1004(1999)13:2<173::aid-humu20>3.0.co;2-3
PubMed ID: 10869121
Title: Is the spectrum of mutations in Indian patients with cystic fibrosis different?
PubMed ID: 10869121
DOI: 10.1002/1096-8628(20000717)93:2<161::aid-ajmg15>3.0.co;2-l
PubMed ID: 10923036
Title: Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
PubMed ID: 10923036
DOI: 10.1002/1098-1004(200008)16:2<143::aid-humu7>3.0.co;2-j
PubMed ID: 11242048
Title: Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.
PubMed ID: 11242048
DOI: 10.1038/35065099
PubMed ID: 12394343
Title: The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis.
PubMed ID: 12394343
PubMed ID: 12167682
Title: Variant cystic fibrosis phenotypes in the absence of CFTR mutations.
PubMed ID: 12167682
DOI: 10.1056/nejmoa011899
PubMed ID: 12529365
Title: A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
PubMed ID: 12529365
PubMed ID: 15716351
Title: Characterization of wild-type and deltaF508 cystic fibrosis transmembrane regulator in human respiratory epithelia.
PubMed ID: 15716351
PubMed ID: 17098864
Title: Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms.
PubMed ID: 17098864
PubMed ID: 16822950
Title: Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes.
PubMed ID: 16822950
PubMed ID: 17182731
Title: Regulatory interactions of N1303K-CFTR and ENaC in Xenopus oocytes: evidence that chloride transport is not necessary for inhibition of ENaC.
PubMed ID: 17182731
PubMed ID: 17329263
Title: Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
PubMed ID: 17329263
PubMed ID: 18987736
Title: DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.
PubMed ID: 18987736
DOI: 10.1038/nature07485
PubMed ID: 20691141
Title: Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation.
PubMed ID: 20691141
PubMed ID: 21884936
Title: Rescue of DeltaF508-CFTR trafficking via a GRASP-dependent unconventional secretion pathway.
PubMed ID: 21884936
PubMed ID: 27241308
Title: Rattlesnake phospholipase A2 increases CFTR-chloride channel current and corrects DelF508CFTR dysfunction: impact in cystic fibrosis.
PubMed ID: 27241308
PubMed ID: 26846474
Title: On the mechanism of gating defects caused by the R117H mutation in cystic fibrosis transmembrane conductance regulator.
PubMed ID: 26846474
DOI: 10.1113/jp271723
PubMed ID: 28001373
Title: Direct measurement of trafficking of the cystic fibrosis transmembrane conductance regulator to the cell surface and binding to a chemical chaperone.
PubMed ID: 28001373
PubMed ID: 28087700
Title: Two small molecules restore stability to a sub-population of the cystic fibrosis transmembrane conductance regulator with the predominant disease-causing mutation.
PubMed ID: 28087700
PubMed ID: 28067262
Title: Sec16A is critical for both conventional and unconventional secretion of CFTR.
PubMed ID: 28067262
DOI: 10.1038/srep39887
PubMed ID: 32026723
Title: Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.
PubMed ID: 32026723
PubMed ID: 33572515
Title: Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.
PubMed ID: 33572515
Sequence Information:
- Length: 1480
- Mass: 168142
- Checksum: 8D082AA2E768C065
- Sequence:
MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF DQFSAERRNS ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ MNGIEEDSDE PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH KMLHSVLQAP MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV PVIVAFIMLR AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGEGRVG IILTLAMNIM STLQWAVNSS IDVDSLMRSV SRVFKFIDMP TEGKPTKSTK PYKNGQLSKV MIIENSHVKK DDIWPSGGQM TVKDLTAKYT EGGNAILENI SFSISPGQRV GLLGRTGSGK STLLSAFLRL LNTEGEIQID GVSWDSITLQ QWRKAFGVIP QKVFIFSGTF RKNLDPYEQW SDQEIWKVAD EVGLRSVIEQ FPGKLDFVLV DGGCVLSHGH KQLMCLARSV LSKAKILLLD EPSAHLDPVT YQIIRRTLKQ AFADCTVILC EHRIEAMLEC QQFLVIEENK VRQYDSIQKL LNERSLFRQA ISPSDRVKLF PHRNSSKCKS KPQIAALKEE TEEEVQDTRL