| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1080 |
Name | CFTR |
Synonym | ABC35|ABCC7|CF|CFTR/MRP|MRP7|TNR-CFTR|dJ760C5.1;cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7);CFTR;cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) |
Definition | ATP-binding cassette sub-family C member 7|ATP-binding cassette transporter sub-family C member 7|cAMP-dependent chloride channel|channel conductance-controlling ATPase|cystic fibrosis transmembrane conductance regulator |
Position | 7q31.2 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Pancreatic secretion;KEGG PATHWAY;hsa04972 |
Pathway | Vibrio cholerae infection;KEGG PATHWAY;hsa05110 |
Pathway | ABC-family proteins mediated transport;PID Reactome;500331 |
Pathway | Transmembrane transport of small molecules;Reactome;REACT:15518 |
Pathway | ABC transporters;KEGG PATHWAY;hsa02010 |
Pathway | Gastric acid secretion;KEGG PATHWAY;hsa04971 |
Pathway | cystic fibrosis transmembrane conductance regulator (cftr) and beta 2 adrenergic receptor (b2ar) pathway;PID BioCarta;100205 |
Disease | Congenital Bilateral Absence of the Vas Deferens;GAD |
Disease | Azoospermia;FunDO |
Disease | Bronchiectasis with or without elevated sweat chloride 1, modifier of;OMIM |
Disease | elevated sweat chloride concentrations;GAD |
Disease | Respiratory tract disease;FunDO |
Disease | DEVELOPMENTAL;GAD |
Disease | Cystic fibrosis;OMIM |
Disease | Gram-Negative bacterial infection;FunDO |
Disease | Sinusitis;FunDO |
Disease | Cystic fibrosis;FunDO |
Disease | Hypertrypsinemia, neonatal;OMIM |
Disease | IMMUNE;GAD |
Disease | Sweat chloride elevation without CF;OMIM |
Disease | Polycystic kidney;FunDO |
Disease | pancreatitis;GAD |
Disease | Hypertension;FunDO |
Disease | Infertility, Male;FunDO |
Disease | Alzheimer's disease;FunDO |
Disease | postnatal female survival;GAD |
Disease | lung disease;GAD |
Disease | Genetic disorders;KEGG DISEASE |
Disease | CARDIOVASCULAR;GAD |
Disease | cystic fibrosis;GAD |
Disease | Cystic fibrosis;KEGG DISEASE;H00218 |
Disease | Testicular dysfunction;FunDO |
Disease | blood pressure, arterial;GAD |
Disease | Pancreatitis, idiopathic;OMIM |
Disease | Congenital bilateral absence of vas deferens;OMIM |
Disease | Pulmonary Disease;GAD |
Disease | Alimentary system disease;FunDO |
Disease | Conduct disorder;FunDO |
Disease | Heart failure;FunDO |
Disease | Oligospermia;FunDO |
Disease | Enteritis;FunDO |
Disease | Inherited disorders of ion transport and metabolism;KEGG DISEASE |
Disease | Infertility;FunDO |
Disease | liver disease, chronic;GAD |
Disease | bronchiectasis;GAD |
Disease | allergic bronchopulmonary aspergillosis ABPA;GAD |
External Links | |
Links to Entrez Gene | 1080 |
Links to all GeneRIF Items | 1080 |
Links to iHOP | 1080 |
Sequence Information | |
Nucleotide Sequence | >1080 : length: 4443 atgcagaggtcgcctctggaaaaggccagcgttgtctccaaactttttttcagctggacc agaccaattttgaggaaaggatacagacagcgcctggaattgtcagacatataccaaatc ccttctgttgattctgctgacaatctatctgaaaaattggaaagagaatgggatagagag ctggcttcaaagaaaaatcctaaactcattaatgcccttcggcgatgttttttctggaga tttatgttctatggaatctttttatatttaggggaagtcaccaaagcagtacagcctctc ttactgggaagaatcatagcttcctatgacccggataacaaggaggaacgctctatcgcg atttatctaggcataggcttatgccttctctttattgtgaggacactgctcctacaccca gccatttttggccttcatcacattggaatgcagatgagaatagctatgtttagtttgatt tataagaagactttaaagctgtcaagccgtgttctagataaaataagtattggacaactt gttagtctcctttccaacaacctgaacaaatttgatgaaggacttgcattggcacatttc gtgtggatcgctcctttgcaagtggcactcctcatggggctaatctgggagttgttacag gcgtctgccttctgtggacttggtttcctgatagtccttgccctttttcaggctgggcta gggagaatgatgatgaagtacagagatcagagagctgggaagatcagtgaaagacttgtg attacctcagaaatgattgaaaatatccaatctgttaaggcatactgctgggaagaagca atggaaaaaatgattgaaaacttaagacaaacagaactgaaactgactcggaaggcagcc tatgtgagatacttcaatagctcagccttcttcttctcagggttctttgtggtgttttta tctgtgcttccctatgcactaatcaaaggaatcatcctccggaaaatattcaccaccatc tcattctgcattgttctgcgcatggcggtcactcggcaatttccctgggctgtacaaaca tggtatgactctcttggagcaataaacaaaatacaggatttcttacaaaagcaagaatat aagacattggaatataacttaacgactacagaagtagtgatggagaatgtaacagccttc tgggaggagggatttggggaattatttgagaaagcaaaacaaaacaataacaatagaaaa acttctaatggtgatgacagcctcttcttcagtaatttctcacttcttggtactcctgtc ctgaaagatattaatttcaagatagaaagaggacagttgttggcggttgctggatccact ggagcaggcaagacttcacttctaatggtgattatgggagaactggagccttcagagggt aaaattaagcacagtggaagaatttcattctgttctcagttttcctggattatgcctggc accattaaagaaaatatcatctttggtgtttcctatgatgaatatagatacagaagcgtc atcaaagcatgccaactagaagaggacatctccaagtttgcagagaaagacaatatagtt cttggagaaggtggaatcacactgagtggaggtcaacgagcaagaatttctttagcaaga gcagtatacaaagatgctgatttgtatttattagactctccttttggatacctagatgtt ttaacagaaaaagaaatatttgaaagctgtgtctgtaaactgatggctaacaaaactagg attttggtcacttctaaaatggaacatttaaagaaagctgacaaaatattaattttgcat gaaggtagcagctatttttatgggacattttcagaactccaaaatctacagccagacttt agctcaaaactcatgggatgtgattctttcgaccaatttagtgcagaaagaagaaattca atcctaactgagaccttacaccgtttctcattagaaggagatgctcctgtctcctggaca gaaacaaaaaaacaatcttttaaacagactggagagtttggggaaaaaaggaagaattct attctcaatccaatcaactctatacgaaaattttccattgtgcaaaagactcccttacaa atgaatggcatcgaagaggattctgatgagcctttagagagaaggctgtccttagtacca gattctgagcagggagaggcgatactgcctcgcatcagcgtgatcagcactggccccacg cttcaggcacgaaggaggcagtctgtcctgaacctgatgacacactcagttaaccaaggt cagaacattcaccgaaagacaacagcatccacacgaaaagtgtcactggcccctcaggca aacttgactgaactggatatatattcaagaaggttatctcaagaaactggcttggaaata agtgaagaaattaacgaagaagacttaaaggagtgcttttttgatgatatggagagcata ccagcagtgactacatggaacacataccttcgatatattactgtccacaagagcttaatt tttgtgctaatttggtgcttagtaatttttctggcagaggtggctgcttctttggttgtg ctgtggctccttggaaacactcctcttcaagacaaagggaatagtactcatagtagaaat aacagctatgcagtgattatcaccagcaccagttcgtattatgtgttttacatttacgtg ggagtagccgacactttgcttgctatgggattcttcagaggtctaccactggtgcatact ctaatcacagtgtcgaaaattttacaccacaaaatgttacattctgttcttcaagcacct atgtcaaccctcaacacgttgaaagcaggtgggattcttaatagattctccaaagatata gcaattttggatgaccttctgcctcttaccatatttgacttcatccagttgttattaatt gtgattggagctatagcagttgtcgcagttttacaaccctacatctttgttgcaacagtg ccagtgatagtggcttttattatgttgagagcatatttcctccaaacctcacagcaactc aaacaactggaatctgaaggcaggagtccaattttcactcatcttgttacaagcttaaaa ggactatggacacttcgtgccttcggacggcagccttactttgaaactctgttccacaaa gctctgaatttacatactgccaactggttcttgtacctgtcaacactgcgctggttccaa atgagaatagaaatgatttttgtcatcttcttcattgctgttaccttcatttccatttta acaacaggagaaggagaaggaagagttggtattatcctgactttagccatgaatatcatg agtacattgcagtgggctgtaaactccagcatagatgtggatagcttgatgcgatctgtg agccgagtctttaagttcattgacatgccaacagaaggtaaacctaccaagtcaaccaaa ccatacaagaatggccaactctcgaaagttatgattattgagaattcacacgtgaagaaa gatgacatctggccctcagggggccaaatgactgtcaaagatctcacagcaaaatacaca gaaggtggaaatgccatattagagaacatttccttctcaataagtcctggccagagggtg ggcctcttgggaagaactggatcagggaagagtactttgttatcagcttttttgagacta ctgaacactgaaggagaaatccagatcgatggtgtgtcttgggattcaataactttgcaa cagtggaggaaagcctttggagtgataccacagaaagtatttattttttctggaacattt agaaaaaacttggatccctatgaacagtggagtgatcaagaaatatggaaagttgcagat gaggttgggctcagatctgtgatagaacagtttcctgggaagcttgactttgtccttgtg gatgggggctgtgtcctaagccatggccacaagcagttgatgtgcttggctagatctgtt ctcagtaaggcgaagatcttgctgcttgatgaacccagtgctcatttggatccagtaaca taccaaataattagaagaactctaaaacaagcatttgctgattgcacagtaattctctgt gaacacaggatagaagcaatgctggaatgccaacaatttttggtcatagaagagaacaaa gtgcggcagtacgattccatccagaaactgctgaacgagaggagcctcttccggcaagcc atcagcccctccgacagggtgaagctctttccccaccggaactcaagcaagtgcaagtct aagccccagattgctgctctgaaagaggagacagaagaagaggtgcaagatacaaggctt tag |
Protein Sequence | >1080 : length: 1480 MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRE LASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIA IYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQL VSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGL GRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAA YVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQT WYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRK TSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEG KIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIV LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTR ILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNS ILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQ MNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQG QNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESI PAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRN NSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAP MSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATV PVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHK ALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIM STLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRL LNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVAD EVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVT YQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQA ISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL |