Human Gene CFTR (ENST00000648260.1) from GENCODE V38
Description: cystic fibrosis transmembrane conductance regulator (from HGNC CFTR)
RefSeq Summary (NM_000492): This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017].
Gencode Transcript: ENST00000648260.1
Gencode Gene: ENSG00000001626.16
Transcript (Including UTRs)
Position: hg38 chr7:117,480,011-117,627,910 Size: 147,900 Total Exon Count: 17 Strand: +
Position: hg38 chr7:117,480,095-117,627,800 Size: 147,706 Coding Exon Count: 17
Data last updated at UCSC: 2021-09-27 09:51:20
Sequence and Links to Tools and Databases
MalaCards Disease Associations
MalaCards Gene Search:
CFTR Diseases sorted by gene-association score: cystic fibrosis* (1803), congenital bilateral absence of vas deferens* (1606), bronchiectasis with or without elevated sweat chloride 1* (689), pancreatitis, hereditary* (514), idiopathic bronchiectasis* (350), congenital absence of the vas deferens* (119), cftr-related disorders* (119), cftr-related hereditary pancreatitis* (100), cholangitis, primary sclerosing (23), autosomal genetic disease (21), bronchiectasis (20), allergic bronchopulmonary aspergillosis (18), mite infestation (18), young syndrome (17), alcoholic pancreatitis (17), lung disease (16), recurrent acute pancreatitis (15), intussusception (15), secretory diarrhea (14), autosomal dominant polycystic kidney disease (14), nontuberculous mycobacterial lung disease (13), meconium ileus (13), autoimmune pancreatitis (12), rectal prolapse (12), cholera (12), cholangitis (11), pancreatitis (11), liddle syndrome (11), male infertility (10), mycobacterium abscessus (10), oligospermia (10), intestinal obstruction (10), bronchitis (10), pancreatic agenesis 1 (9), azoospermia (8), exocrine pancreatic insufficiency (8), miliaria rubra (8), sclerosing cholangitis (8), sinusitis (7), alpha 1-antitrypsin deficiency (7), johanson-blizzard syndrome (7), steatorrhea (7), renal hypodysplasia/aplasia 1 (6), aspergillosis (6), hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (6), typhoid fever (6), miliaria (6), mammary paget's disease (6), pulmonary edema (6), pseudoxanthoma elasticum (5), specific language impairment (5), male reproductive system disease (5), gallbladder disease (5), asthma (2), autosomal recessive disease (2), primary ciliary dyskinesia (2), respiratory system disease (1), reproductive system disease (1), kartagener syndrome (1) * = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
M28668 - Human cystic fibrosis mRNA, encoding a presumed transmembrane conductance regulator (CFTR). JC612186 - Sequence 1 from Patent WO2014045283. JC612196 - Sequence 11 from Patent WO2014045283. JC612197 - Sequence 12 from Patent WO2014045283. BC143713 - Homo sapiens cDNA clone IMAGE:9052227, containing frame-shift errors. BC156254 - Synthetic construct Homo sapiens clone IMAGE:100061681, MGC:190072 cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR) mRNA, encodes complete protein. LF636471 - JP 2016517437-A/1: CFTR MRNA COMPOSITIONS AND RELATED METHODS AND USES. LG162859 - KR 1020160010398-A/2: CFTR MRNA COMPOSITIONS AND RELATED METHODS AND USES. LP043843 - Sequence 2 from Patent WO2014153052. MP152080 - Sequence 2 from Patent EP3446712. MB442950 - JP 2018100307-A/1: CFTR MRNA COMPOSITIONS AND RELATED METHODS AND USES. MP455657 - Sequence 1 from Patent EP3591052. MP455667 - Sequence 11 from Patent EP3591052. MP455668 - Sequence 12 from Patent EP3591052. DQ656054 - Homo sapiens clone UGLsupplH, mRNA sequence. LP986380 - Sequence 18 from Patent EP3201339. MA014040 - JP 2017536338-A/18: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. JD126487 - Sequence 107511 from Patent EP1572962. LP986382 - Sequence 20 from Patent EP3201339. MA014042 - JP 2017536338-A/20: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986384 - Sequence 22 from Patent EP3201339. MA014044 - JP 2017536338-A/22: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986386 - Sequence 24 from Patent EP3201339. MA014046 - JP 2017536338-A/24: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986388 - Sequence 26 from Patent EP3201339. MA014048 - JP 2017536338-A/26: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986390 - Sequence 28 from Patent EP3201339. MA014050 - JP 2017536338-A/28: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986392 - Sequence 30 from Patent EP3201339. MA014052 - JP 2017536338-A/30: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986394 - Sequence 32 from Patent EP3201339. MA014054 - JP 2017536338-A/32: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986396 - Sequence 34 from Patent EP3201339. MA014056 - JP 2017536338-A/34: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986400 - Sequence 38 from Patent EP3201339. MA014060 - JP 2017536338-A/38: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. X73053 - H.sapiens CFTR mutation mRNA. LP986410 - Sequence 48 from Patent EP3201339. MA014070 - JP 2017536338-A/48: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986412 - Sequence 50 from Patent EP3201339. MA014072 - JP 2017536338-A/50: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986414 - Sequence 52 from Patent EP3201339. MA014074 - JP 2017536338-A/52: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986416 - Sequence 54 from Patent EP3201339. MA014076 - JP 2017536338-A/54: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986418 - Sequence 56 from Patent EP3201339. MA014078 - JP 2017536338-A/56: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986420 - Sequence 58 from Patent EP3201339. MA014080 - JP 2017536338-A/58: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986422 - Sequence 60 from Patent EP3201339. MA014082 - JP 2017536338-A/60: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa02010 - ABC transporters hsa05110 - Vibrio cholerae infection
BioCarta from NCI Cancer Genome Anatomy Project h_cftrPathway - Cystic fibrosis transmembrane conductance regulator (CFTR) and beta 2 adrenergic receptor (b2AR) pathway
Other Names for This Gene
Alternate Gene Symbols: A0A3B3ITW0, BC143713, uc285zxm.1 UCSC ID: ENST00000648260.1 RefSeq Accession: NM_000492
GeneReviews for This Gene
GeneReviews article(s) related to gene CFTR: (Pancreatitis Overview) pancreatitis-ov (Cystic Fibrosis and Congenital Absence of the Vas Deferens) cf
Methods, Credits, and Use Restrictions
for details on how this gene model was made and data restrictions if any.