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Gene: CFTR (CF transmembrane conductance regulator) Homo sapiens
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Symbol: CFTR
Name: CF transmembrane conductance regulator
Description: Exhibits several functions, including PDZ domain binding activity; Sec61 translocon complex binding activity; and anion transmembrane transporter activity. Involved in several processes, including anion transport; cellular response to forskolin; and positive regulation of transport. Localizes to several cellular components, including the apical plasma membrane; cell surface; and endosome. Implicated in several diseases, including alcoholic pancreatitis; allergic bronchopulmonary aspergillosis; bronchial disease (multiple); cystic fibrosis; and lung disease (multiple). Biomarker of Alzheimer's disease; cystic fibrosis; prostatic hypertrophy; and salpingitis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ABC35; ABCC7; ATP-binding cassette sub-family C member 7; ATP-binding cassette transporter sub-family C member 7; cAMP-dependent chloride channel; CF; CFTR/MRP; channel conductance-controlling ATPase; cystic fibrosis transmembrane conductance regulating; cystic fibrosis transmembrane conductance regulator; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); cystic fibrosis transmembrane conductance regulator, atp-binding cassette (sub-family c, member 7); dJ760C5.1; MRP7; TNR-CFTR
Orthologs:
Mus musculus (house mouse) : Cftr (cystic fibrosis transmembrane conductance regulator)  MGI  Alliance
Rattus norvegicus (Norway rat) : Cftr (CF transmembrane conductance regulator)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Cftr (CF transmembrane conductance regulator)
Pan paniscus (bonobo/pygmy chimpanzee) : CFTR (CF transmembrane conductance regulator)
Canis lupus familiaris (dog) : CFTR (CF transmembrane conductance regulator)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Cftr (CF transmembrane conductance regulator)
Sus scrofa (pig) : CFTR (CF transmembrane conductance regulator)
more info ...
Related Pseudogenes: CFTRP1   CFTRP2   CFTRP3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387117,480,025 - 117,668,665 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh377117,120,017 - 117,308,719 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367116,907,253 - 117,095,955 (+)NCBINCBI36hg18NCBI36
Build 347116,713,967 - 116,902,666NCBI
Celera7111,928,196 - 112,116,895 (+)NCBI
Cytogenetic Map7q31.2NCBI
HuRef7111,485,640 - 111,674,189 (+)NCBIHuRef
CHM1_17117,053,369 - 117,242,163 (+)NCBICHM1_1
CRA_TCAGchr7v27116,515,451 - 116,704,154 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model