Property Summary

NCBI Gene PubMed Count 1,352
PubMed Score 5988.37
PubTator Score 5925.49

Knowledge Summary

Patent (256,277)

TINX Plot

  Disease Sources (7)

Disease Target Count P-value
non-small cell lung cancer 2798 3.05951931233006E-12
lung cancer 4473 3.36732247167183E-7
lung carcinoma 2844 4.63678417750087E-6
malignant mesothelioma 3163 1.02118853079655E-4
psoriasis 6685 3.141979115333E-4
lung adenocarcinoma 2714 0.00108887229752847
ulcerative colitis 2087 0.00172942899930713
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0119511890046165
pancreatic cancer 2300 0.0152069969778946
non primary Sjogren syndrome sicca 840 0.0204941852183563
cutaneous lupus erythematosus 1056 0.0229485169546861
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0239410085131844
esophageal adenocarcinoma 737 0.0257990234686446
intraductal papillary-mucinous adenoma (IPMA) 2956 0.028787754400546
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0

Expression

Synonym

Accession P13569 Q20BG8 Q20BH2 Q2I0A1 Q2I102 CFTR
Symbols CF
MRP7
ABC35
ABCC7
CFTR/MRP
TNR-CFTR
dJ760C5.1

Gene

PDB

2LOB   5D2D   1NBD   1XMI   1XMJ   2BBO   2BBS   2BBT   2PZE   2PZF   2PZG   3GD7   3ISW   4WZ6   5D3E  

  Ortholog (11)

MLP Assay (6)

AID Type Active / Inconclusive / Inactive Description
588850 screening 3107 / 0 / 356414 uHTS identification of cystic fibrosis induced NFkb Inhibitors in a fluoresence assay
588858 summary 0 / 0 / 0 Summary assay for small molecule cystic fibrosis induced NFkb Inhibitors
602472 screening 833 / 0 / 469 Single concentration confirmation of uHTS hits for cystic fibrosis induced NFkb Inhibitors in a fluoresence assay
624344 confirmatory 172 / 0 / 565 Dose Response confirmation of uHTS small molecule hits for cystic fibrosis induced NFkb Inhibitors in a panel assay
651592 confirmatory 5 / 0 / 30 SAR analysis of molecule cystic fibrosis induced NFkb Inhibitors in a panel assay
651992 other 1 / 0 / 0 Late-stage results from the probe development effort to identify transcriptional activators of heat shock protein 70 (Hsp70): yellow fluorescent protein (YFP) quenching assay to assess changes in trafficking of DeltaF508-CFTR

Gene RIF (1351)

PMID Text
27215038 we determined the total information content of the approach for 19 common mutations registration in the CFTR gene, 84.6%, and the allelic frequencies of the examined mutations
27092946 KCa3.1 and CFTR colocalize at the plasma membrane.
26950439 Role of Interaction and Nucleoside Diphosphate Kinase B in Regulation of the Cystic Fibrosis Transmembrane Conductance Regulator Function by cAMP-Dependent Protein Kinase A
26800689 The study helps expand our knowledge of rare CFTR mutations in a minority population and may have important clinical implications for personalized therapeutic intervention.
26724724 Studies indicate that the main strategies used in the molecular diagnosis of cystic fibrosis are detecting and sequencing of the entire coding region of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
26710934 We found that cyclophosphamide significantly enhanced long-term expression of the transgenic human CFTR and the reporter gene LacZ by reducing host immune responses.
26683699 Data show that hypotonicity activated cystic fibrosis transmembrane conductance regulator (CFTR) channels in airway Calu-3 epithelial cells.
26658045 Letter/Case Report: high penetrance of the PRSS1 A16V mutation caused by SPINK1 N34S and CFTR TG11-5T co-mutations associated with pancreatitis.
26627832 Hsp27-Ubc9 pathway recognizes the conformation of mutant CFTR which leads to its SUMO-2 conjugation and degradation by the ubiquitin-proteasome system.
26627831 CFTR gating and ATP hydrolysis require a properly configured transmembrane domain interface.
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AA Sequence

MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLI      1 - 70
NALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHP     71 - 140
AIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVAL    141 - 210
LMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEA    211 - 280
MEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAV    281 - 350
TRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRK    351 - 420
TSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISF    421 - 490
CSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLAR    491 - 560
AVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTF    561 - 630
SELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNS    631 - 700
ILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVL    701 - 770
NLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESI    771 - 840
PAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITST    841 - 910
SSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDI    911 - 980
AILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSP    981 - 1050
IFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISIL   1051 - 1120
TTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKV   1121 - 1190
MIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRL   1191 - 1260
LNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQ   1261 - 1330
FPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILC   1331 - 1400
EHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLFPHRNSSKCKSKPQIAALKEE   1401 - 1470
TEEEVQDTRL                                                               1471 - 1480
//

Text Mined References (1358)

PMID Year Title
27215038 2016 [Reliability of the Search for 19 Common Mutations in the CFTR Gene in Russian Cystic Fibrosis Patients and the Calculated Frequency of the Disease in Russian Federation].
27092946 2016 Investigating CFTR and KCa3.1 Protein/Protein Interactions.
26950439 2016 Role of Interaction and Nucleoside Diphosphate Kinase B in Regulation of the Cystic Fibrosis Transmembrane Conductance Regulator Function by cAMP-Dependent Protein Kinase A.
26800689 2016 c.3623G?>?A mutation encodes a CFTR protein with impaired channel function.
26724724 2016 Molecular Diagnosis of Cystic Fibrosis.
26710934 2016 Long-Term Expression of the Human CFTR Gene in Mouse Airway via Helper-Dependent Adenoviral Vector Delivery and Transient Immunosuppression.
26683699 2016 Mechanosensitivity of wild-type and G551D cystic fibrosis transmembrane conductance regulator (CFTR) controls regulatory volume decrease in simple epithelia.
26658045 2016 High Penetrance of the PRSS1 A16V Mutation in a Kindred With SPINK1 N34S and CFTR TG11-5T Co-mutations.
26627832 2016 Non-native Conformers of Cystic Fibrosis Transmembrane Conductance Regulator NBD1 Are Recognized by Hsp27 and Conjugated to SUMO-2 for Degradation.
26627831 2016 Channel Gating Regulation by the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) First Cytosolic Loop.
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