Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CFTR contributors: mct/ - updated : 13-01-2016
HGNC name cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
HGNC id 1884
ASSOCIATED DISORDERS
corresponding disease(s) CBAVD , CF
related resource Cysticfibrosis
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
dDecreased CFTR and CREB1 expression are also observed in human testes with azoospermia
Susceptibility maybe a susceptibility gene for sarcoidosis and susceptibility for pancreatic chronic idiopathic
Variant & Polymorphism overexpression of splicing factors (cellular and viral) can modulate the splicing pattern
Candidate gene
Marker
  • may function as a novel tumor marker, and a prospective prognostic indicator for cervical cancer
  • Therapy target
    SystemTypeDisorderPubmed
    respiratoryCF (mucoviscidosis) 
    ion channel modulating agents, such as lancovutide (Moli1901, duramycin) and denufosol, which activate alternate (non-CF transmembrane regulator [CFTR]) chloride channels, and GS 9411, a sodium channel antagonist, are now at the stages of clinical study a
    cancerreproductiveuterus
    may function as a potential therapeutic target for cervical cancer
    ANIMAL & CELL MODELS
  • mice lacking functional CFTR (Cftrdelta508) have no lung phenotype but show similar ileal problems to humans, but properties of the ileal mucus of CF mice were normalized by secretion into a high concentration sodium bicarbonate buffer
  • severe osteopenia and altered bone architecture were found in young and mature adult F508del Cftr(tm1Eur) mice