Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:solute_carrier_family_12_member_5
|
| gptkbp:discoveredIn |
1999
|
| gptkbp:encodes |
gptkb:KCC2_protein
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000157368
57468 |
| gptkbp:expressedIn |
central nervous system
|
| gptkbp:function |
gptkb:potassium-chloride_cotransporter
|
| gptkbp:HGNC_ID |
gptkb:HGNC:14057
|
| https://www.w3.org/2000/01/rdf-schema#label |
SLC12A5
|
| gptkbp:involvedIn |
gptkb:GABAergic_signaling
|
| gptkbp:locatedOnChromosome |
20q13.12
|
| gptkbp:mutationAssociatedWith |
gptkb:autism_spectrum_disorder
epilepsy |
| gptkbp:OMIM |
604878
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Slc12a5
|
| gptkbp:product |
gptkb:KCC2
|
| gptkbp:regulates |
neuronal excitability
|
| gptkbp:role |
neuronal chloride homeostasis
|
| gptkbp:UniProtID |
gptkb:Q9H2U9
|
| gptkbp:bfsParent |
gptkb:Alzheimer's_disease_pathway
gptkb:16p13.13 |
| gptkbp:bfsLayer |
7
|