Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Dravet_syndrome
gptkb:childhood_absence_epilepsy epilepsy |
| gptkbp:encodes |
Gamma-aminobutyric acid receptor subunit gamma-2
|
| gptkbp:Entrez_Gene_ID |
2566
|
| gptkbp:expressedIn |
brain
|
| gptkbp:function |
mediates inhibitory neurotransmission
component of GABA-A receptor |
| https://www.w3.org/2000/01/rdf-schema#label |
Gabrg2
|
| gptkbp:locatedOnChromosome |
chromosome 5 (mouse)
chromosome 5q34 (human) |
| gptkbp:mutationAssociatedWith |
can cause epilepsy syndromes
|
| gptkbp:OMIM |
137164
|
| gptkbp:organism |
gptkb:Mus_musculus
gptkb:Homo_sapiens |
| gptkbp:orthologIn |
GABRG2 (human)
|
| gptkbp:product |
GABRG2 protein
|
| gptkbp:UniProtID |
P18507
|
| gptkbp:bfsParent |
gptkb:GABRG2_gene
|
| gptkbp:bfsLayer |
7
|