Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:childhood_absence_epilepsy
epilepsy febrile seizures |
| gptkbp:component |
gptkb:GABA-A_receptor
|
| gptkbp:encodes |
gamma-aminobutyric acid receptor subunit gamma-2
|
| gptkbp:Entrez_Gene_ID |
2566
ENSG00000182872 |
| gptkbp:expressedIn |
brain
|
| gptkbp:function |
inhibitory neurotransmission
|
| gptkbp:HGNC_ID |
HGNC:4093
|
| https://www.w3.org/2000/01/rdf-schema#label |
GABRG-2
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_5
|
| gptkbp:mutationAssociatedWith |
can cause epilepsy syndromes
|
| gptkbp:OMIM |
137164
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:product |
GABA-A receptor gamma-2 subunit
|
| gptkbp:UniProtID |
P18507
|
| gptkbp:bfsParent |
gptkb:GABRG2_gene
|
| gptkbp:bfsLayer |
7
|