Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
Kir3.2
Potassium inwardly-rectifying channel, subfamily J, member 6 |
| gptkbp:associatedWith |
gptkb:Down_syndrome
Keppen-Lubinsky syndrome |
| gptkbp:encodes |
GIRK2 protein
|
| gptkbp:Entrez_Gene_ID |
3763
ENSG00000184185 |
| gptkbp:expressedIn |
brain
heart |
| gptkbp:function |
regulates potassium ion flow in neurons
|
| gptkbp:HGNC_ID |
gptkb:HGNC:6252
|
| https://www.w3.org/2000/01/rdf-schema#label |
KCNJ6
|
| gptkbp:locatedOnChromosome |
21q22.13
|
| gptkbp:mutationAssociatedWith |
epilepsy
movement disorders |
| gptkbp:OMIM |
600877
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Kcnj6
|
| gptkbp:proteinFamily |
G protein-activated inward rectifier potassium channels
|
| gptkbp:UniProtID |
P48051
|
| gptkbp:bfsParent |
gptkb:human_chromosome_21
|
| gptkbp:bfsLayer |
7
|