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FLASH GENE

Symbol

CFTR

contributors: mct/ - updated : 13-01-2018

HGNC name	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
HGNC id	1884

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CBAVD , CF

related resource

Cysticfibrosis

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed respiratory CF (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 cancer reproductive uterus 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