Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
Gitelman syndrome
|
| gptkbp:encodes |
thiazide-sensitive sodium-chloride cotransporter
|
| gptkbp:Entrez_Gene_ID |
6559
|
| gptkbp:expressedIn |
gptkb:kidney
|
| gptkbp:function |
sodium and chloride reabsorption in distal convoluted tubule
|
| gptkbp:HGNC_ID |
gptkb:HGNC:11052
|
| https://www.w3.org/2000/01/rdf-schema#label |
SLC12A3
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_16
16q13 |
| gptkbp:mutationAssociatedWith |
hypokalemia
hypomagnesemia metabolic alkalosis |
| gptkbp:OMIM |
600968
|
| gptkbp:orthologInMouse |
Slc12a3
|
| gptkbp:proteinFamily |
solute carrier family 12
|
| gptkbp:UniProtID |
P55017
|
| gptkbp:bfsParent |
gptkb:chromosome_16_(human)
gptkb:chromosome_16 gptkb:SLC_genes |
| gptkbp:bfsLayer |
7
|