full name
cystic fibrosis transmembrane conductance regulator

synonyms
ABC35, ABCC7, CF, CFTR%2FMRP, dJ760C5.1, MRP7, TNR-CFTR, CFTR, ENSG00000001626

HGNC
HGNC:1884

Entrez Gene
Gene:1080

ENSEMBL
ENSG00000001626

location
chr: 7
start: 117120017
stop: 117308719
strand: +

OMIM
OMIM:602421: CFTR (Autosomal recessive inheritance,Heterogeneous)
OMIM:277180: Congenital bilateral absence of vas deferens
OMIM:219700: Cystic fibrosis
OMIM:211400: {Bronchiectasis with or without elevated sweat chloride 1, modifier of}
OMIM:167800: {Pancreatitis, hereditary}

transcripts
NM_000492.3

pathways
ABC transporter disorders [NCBI:1268933] [REACTOME:R-HSA-5619084] [PUBMED:21740521] [PUBMED:16399363] [PUBMED:23415156] [PUBMED:21389634] [PUBMED:21488864] [PUBMED:21554546]
ABC transporters [NCBI:83035] [KEGG:hsa02010] [PUBMED:10557362] [PUBMED:18424520] [PUBMED:9799792] [PUBMED:18375759] [PUBMED:16135226] [PUBMED:18326572] [PUBMED:18805970] [PUBMED:17214741] [PUBMED:11929526] [PUBMED:11731493] [PUBMED:16109926] [PUBMED:17873039]
ABC-family proteins mediated transport [NCBI:1269904] [REACTOME:R-HSA-382556] [PUBMED:11435397] [PUBMED:12045106] [PUBMED:19234479]
AMPK signaling pathway [NCBI:989139] [KEGG:hsa04152] [PUBMED:22885100] [PUBMED:18725075] [PUBMED:22700795] [PUBMED:19724019] [PUBMED:19584320] [PUBMED:16644802] [PUBMED:20010958] [PUBMED:16479585] [PUBMED:19197243] [PUBMED:23565491] [PUBMED:20357764] [PUBMED:16723978] [PUBMED:16054041] [PUBMED:19393004] [PUBMED:23899560] [PUBMED:17307971] [PUBMED:15509864] [PUBMED:23024365] [PUBMED:23747347] [PUBMED:19629071]
Bile secretion [NCBI:193146] [KEGG:hsa04976] [PUBMED:11826283] [PUBMED:19273385] [PUBMED:12663868] [PUBMED:15758646] [PUBMED:18837079] [PUBMED:15975683] [PUBMED:17404808] [PUBMED:18377365] [PUBMED:16706681] [PUBMED:10728790] [PUBMED:14659471] [PUBMED:18670431] [PUBMED:12483266] [PUBMED:19273238] [PUBMED:18668439] [PUBMED:18371245] [PUBMED:14999673] [PUBMED:11316487] [PUBMED:18081658] [PUBMED:19482594] [PUBMED:20103563]
Cargo recognition for clathrin-mediated endocytosis [NCBI:1427859] [REACTOME:R-HSA-8856825] [PUBMED:24186068] [PUBMED:12952941] [PUBMED:19696796] [PUBMED:14985334] [PUBMED:20448150] [PUBMED:20485680] [PUBMED:16382132] [PUBMED:23482940] [PUBMED:16870701]
Clathrin-mediated endocytosis [NCBI:1427858] [REACTOME:R-HSA-8856828] [PUBMED:16516836] [PUBMED:15339664] [PUBMED:19754444] [PUBMED:8552632] [PUBMED:21779028] [PUBMED:12353027] [PUBMED:23891661] [PUBMED:21613550] [PUBMED:20059951] [PUBMED:21447041] [PUBMED:17620409] [PUBMED:16903783] [PUBMED:21445324] [PUBMED:19696798] [PUBMED:26246598] [PUBMED:25085911] [PUBMED:24186068] [PUBMED:26829388] [PUBMED:27092250] [PUBMED:24581490] [PUBMED:26042225] [PUBMED:23823722] [PUBMED:24789820] [PUBMED:9736607] [PUBMED:23637288] [PUBMED:22233676] [PUBMED:19458185] [PUBMED:26403691] [PUBMED:19296720] [PUBMED:15703209] [PUBMED:20428113] [PUBMED:8953040] [PUBMED:1177317] [PUBMED:9092476] [PUBMED:26872272] [PUBMED:19092055]
Defective CFTR causes cystic fibrosis [NCBI:1268934] [REACTOME:R-HSA-5678895] [PUBMED:16126935] [PUBMED:22650116] [PUBMED:2570460] [PUBMED:21652558]
Deubiquitination [NCBI:1427860] [REACTOME:R-HSA-5688426] [PUBMED:19243136] [PUBMED:20074029] [PUBMED:15571815] [PUBMED:20418328] [PUBMED:16325574] [PUBMED:12944365] [PUBMED:23845989] [PUBMED:22201797]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Disorders of transmembrane transporters [NCBI:1268932] [REACTOME:R-HSA-5619115] [PUBMED:16399363]
Gastric acid secretion [NCBI:154409] [KEGG:hsa04971] [PUBMED:17928547] [PUBMED:18474247] [PUBMED:20148676] [PUBMED:15703676] [PUBMED:15579540] [PUBMED:18626068] [PUBMED:20331540] [PUBMED:19889964] [PUBMED:12500969] [PUBMED:16391411] [PUBMED:9307437] [PUBMED:18061403]
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Pancreatic secretion [NCBI:169306] [KEGG:hsa04972] [PUBMED:16888148] [PUBMED:9548666] [PUBMED:20224219] [PUBMED:19088252] [PUBMED:15709963] [PUBMED:10078532] [PUBMED:15689674] [PUBMED:10835353] [PUBMED:14660554] [PUBMED:20625287] [PUBMED:16930743] [PUBMED:14637169] [PUBMED:16891880] [PUBMED:18626068] [PUBMED:11087843] [PUBMED:17850212] [PUBMED:17205399]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]
RHO GTPase Effectors [NCBI:1269509] [REACTOME:R-HSA-195258] [PUBMED:9694656] [PUBMED:18066052] [PUBMED:11018042] [PUBMED:10470034] [PUBMED:8702756] [PUBMED:21730051] [PUBMED:8571126] [PUBMED:19513348] [PUBMED:17244649] [PUBMED:11145705] [PUBMED:24128008] [PUBMED:23716662] [PUBMED:8617235] [PUBMED:8543060] [PUBMED:11804587] [PUBMED:24969695] [PUBMED:12635176] [PUBMED:12778124] [PUBMED:18006505] [PUBMED:1660188] [PUBMED:21351730] [PUBMED:16507994] [PUBMED:14595335] [PUBMED:10072071] [PUBMED:10591629] [PUBMED:10753910] [PUBMED:23875749] [PUBMED:17151359] [PUBMED:10652353] [PUBMED:12221077] [PUBMED:10559936] [PUBMED:12783890] [PUBMED:11948177] [PUBMED:18237546] [PUBMED:16079795] [PUBMED:10924361] [PUBMED:14514689] [PUBMED:8107774] [PUBMED:8756646] [PUBMED:16979770] [PUBMED:16636067] [PUBMED:9751706] [PUBMED:10619026] [PUBMED:23444367] [PUBMED:15546864] [PUBMED:12473120] [PUBMED:8816443] [PUBMED:9199170] [PUBMED:12514133] [PUBMED:16762923] [PUBMED:12110184] [PUBMED:16431929] [PUBMED:10975528] [PUBMED:10940294] [PUBMED:9535855] [PUBMED:7559638] [PUBMED:11162552] [PUBMED:19737400] [PUBMED:9988689] [PUBMED:12732141] [PUBMED:8798539] [PUBMED:24914801] [PUBMED:11689693] [PUBMED:8769096] [PUBMED:9368021]
RHO GTPases regulate CFTR trafficking [NCBI:1269517] [REACTOME:R-HSA-5627083] [PUBMED:15546864] [PUBMED:11162552]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by Rho GTPases [NCBI:1269507] [REACTOME:R-HSA-194315] [PUBMED:16212495] [PUBMED:15630019]
Tight junction [NCBI:83071] [KEGG:hsa04530] [PUBMED:25152334] [PUBMED:16650994] [PUBMED:22892070] [PUBMED:18946474] [PUBMED:12042308] [PUBMED:23885123] [PUBMED:16771626] [PUBMED:17182900] [PUBMED:21283798] [PUBMED:25757376] [PUBMED:22928510] [PUBMED:22169974] [PUBMED:25469537] [PUBMED:24651541] [PUBMED:15820555] [PUBMED:17525755] [PUBMED:27353478] [PUBMED:17950242] [PUBMED:18005931] [PUBMED:24548561] [PUBMED:21781017] [PUBMED:20094051] [PUBMED:20134025] [PUBMED:22896795] [PUBMED:18094055] [PUBMED:25483301]
Transmembrane transport of small molecules [NCBI:1269903] [REACTOME:R-HSA-382551]
Ub-specific processing proteases [NCBI:1427862] [REACTOME:R-HSA-5689880] [PUBMED:16325574]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]
Vibrio cholerae infection [NCBI:83101] [KEGG:hsa05110] [PUBMED:12671039] [PUBMED:17464284] [PUBMED:17156122] [PUBMED:11207565] [PUBMED:13679513] [PUBMED:11032799] [PUBMED:14659695] [PUBMED:11953326] [PUBMED:10942706] [PUBMED:12102686] [PUBMED:11349009] [PUBMED:11292584] [PUBMED:12403808] [PUBMED:11454785] [PUBMED:15204437]
cAMP signaling pathway [NCBI:1017634] [KEGG:hsa04024] [PUBMED:10880354] [PUBMED:9204709] [PUBMED:21693691] [PUBMED:24062645] [PUBMED:24450633] [PUBMED:21346730] [PUBMED:24613710] [PUBMED:21744067] [PUBMED:22082266] [PUBMED:16460276] [PUBMED:18176800] [PUBMED:14715909] [PUBMED:7688165] [PUBMED:24281338] [PUBMED:11117527] [PUBMED:16765984] [PUBMED:18323530] [PUBMED:18064650] [PUBMED:21852968] [PUBMED:11493633] [PUBMED:21212391] [PUBMED:15142747] [PUBMED:17077866] [PUBMED:19460777] [PUBMED:19874988] [PUBMED:16571352] [PUBMED:22022314]