|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Cystic_fibrosis
gptkb:Congenital_bilateral_absence_of_the_vas_deferens
gptkb:Meconium_ileus
Chronic pancreatitis
|
|
gptkbp:biologicalProcess
|
chloride channel
regulation of ion transport
|
|
gptkbp:discoveredBy
|
gptkb:Lap-Chee_Tsui
|
|
gptkbp:discoveredIn
|
1989
|
|
gptkbp:encodes
|
gptkb:CFTR_protein
|
|
gptkbp:Entrez_Gene_ID
|
1080
ENSG00000001626
|
|
gptkbp:expressedIn
|
lungs
pancreas
intestine
sweat glands
epithelial cells
|
|
gptkbp:fullName
|
gptkb:Cystic_fibrosis_transmembrane_conductance_regulator
|
|
gptkbp:gene
|
gptkb:CFTR
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPseudogene
|
yes
|
|
gptkbp:HGNC_ID
|
1884
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
CFTR
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:length
|
1480 amino acids
|
|
gptkbp:locatedOnChromosome
|
7
7q31.2
|
|
gptkbp:mutationAssociatedWith
|
gptkb:ΔF508
gptkb:G542X
gptkb:G551D
gptkb:N1303K
gptkb:W1282X
|
|
gptkbp:numberOfExons
|
27
|
|
gptkbp:OMIM
|
602421
|
|
gptkbp:orthologInMouse
|
Cftr
|
|
gptkbp:orthologInZebrafish
|
cftr
|
|
gptkbp:pathway
|
Epithelial fluid homeostasis
Ion transport
Mucus clearance
Sweat secretion
|
|
gptkbp:product
|
two membrane-spanning domains, two nucleotide-binding domains, one regulatory domain
|
|
gptkbp:proteinFamily
|
gptkb:ABC_transporter_family
|
|
gptkbp:targetOfDrug
|
gptkb:Ataluren
gptkb:Elexacaftor
gptkb:Ivacaftor
gptkb:Lumacaftor
gptkb:Tezacaftor
|
|
gptkbp:UniProtID
|
P13569
|
|
gptkbp:bfsParent
|
gptkb:chromosome_7
gptkb:Brad_Giffen
gptkb:Sportsnet_590_The_FAN
gptkb:ΔF508
gptkb:CFTR_gene
gptkb:ORPHA:58
|
|
gptkbp:bfsLayer
|
6
|