QuickView for CFTR (gene)

Gene Symbol:

CFTR Homo sapiens

Full name:

cystic fibrosis transmembrane conductance regulator

Synonyms:

ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1, cystic fibrosis transmembrane conductance regulator, cAMP-dependent chloride channel, channel conductance-controlling ATPase, cystic fibrosis transmembrane conductance regulating, cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)

Genomic Location:

Chr 7: 116907253-117095955

Description:

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, AT...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Bos taurus ,  Pan troglodytes ,  Canis lupus familiaris ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

WTGAAAT_UNKNOWN ,  TGAYRTCA_ATF3_Q6 ,  TATAAA_TATA_01 ,  TTGTTT_FOXO4_01 ,  TGACATY_UNKNOWN ,  GGGTGGRR_PAX4_03

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-101 ,  Predicted Gene Targets for miR-144

Cytogenetic Map:

7q31.2

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