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gptkbp:instanceOf
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gptkb:gene
|
|
gptkbp:alternativeName
|
NKCC2
Solute carrier family 12 member 1
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|
gptkbp:associatedWith
|
Bartter syndrome type 1
|
|
gptkbp:biologicalProcess
|
potassium ion transport
renal sodium reabsorption
chloride transport
ion transmembrane transporter activity
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gptkbp:chromosomeArm
|
15q21.1
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gptkbp:discoveredBy
|
Gamba G et al.
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gptkbp:encodes
|
NKCC2 protein
|
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gptkbp:Entrez_Gene_ID
|
6559
ENSG00000115226
|
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gptkbp:expressedIn
|
gptkb:kidney
thick ascending limb of loop of Henle
|
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gptkbp:function
|
sodium-potassium-chloride symporter activity
|
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gptkbp:geneType
|
protein-coding
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gptkbp:HGNC_ID
|
HGNC:10916
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SLC12A1
|
|
gptkbp:length
|
1099 amino acids
~300 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_15
|
|
gptkbp:mutationAssociatedWith
|
Bartter syndrome type 1
|
|
gptkbp:numberOfExons
|
27
|
|
gptkbp:OMIM
|
600839
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Slc12a1
|
|
gptkbp:proteinFamily
|
SLC12 family
|
|
gptkbp:transporterFamily
|
cation-chloride cotransporter family
|
|
gptkbp:UniProtID
|
Q13621
|
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gptkbp:bfsParent
|
gptkb:solute_carrier_family
|
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gptkbp:bfsLayer
|
6
|