Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alias |
gptkb:ATP-binding_cassette_sub-family_C_member_7
gptkb:MRP7 cAMP-regulated chloride channel |
| gptkbp:alsoKnownAs |
gptkb:CFTR
|
| gptkbp:associatedWith |
cystic fibrosis
|
| gptkbp:discoveredIn |
1989
|
| gptkbp:encodes |
gptkb:Cystic_fibrosis_transmembrane_conductance_regulator
|
| gptkbp:Entrez_Gene_ID |
1080
ENSG00000001626 |
| gptkbp:expressedIn |
epithelial cells
|
| gptkbp:function |
chloride channel
|
| gptkbp:HGNC_ID |
1884
|
| https://www.w3.org/2000/01/rdf-schema#label |
ABCC7
|
| gptkbp:length |
27 exons
1480 amino acids |
| gptkbp:locatedOnChromosome |
7q31.2
|
| gptkbp:memberOf |
gptkb:ATP-binding_cassette_transporter_family
|
| gptkbp:mutationAssociatedWith |
cystic fibrosis
congenital bilateral absence of the vas deferens |
| gptkbp:OMIM |
602421
|
| gptkbp:orthologInMouse |
Cftr
|
| gptkbp:product |
gptkb:CFTR_protein
|
| gptkbp:publicTransit |
ABC transporter
|
| gptkbp:regulates |
salt and water transport
|
| gptkbp:UniProtID |
P13569
|
| gptkbp:bfsParent |
gptkb:CFTR_gene
|
| gptkbp:bfsLayer |
6
|