Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Dravet_syndrome
gptkb:childhood_absence_epilepsy epilepsy febrile seizures |
| gptkbp:discoveredIn |
1992
|
| gptkbp:encodes |
GABA-A receptor gamma2 subunit protein
|
| gptkbp:Entrez_Gene_ID |
2566
|
| gptkbp:expressedIn |
brain
|
| gptkbp:fullName |
gamma-aminobutyric acid type A receptor subunit gamma2
|
| gptkbp:function |
mediates inhibitory neurotransmission
forms part of the GABA-A receptor complex |
| gptkbp:hasTranscriptVariant |
multiple
|
| gptkbp:HGNC_ID |
HGNC:4192
|
| https://www.w3.org/2000/01/rdf-schema#label |
GABRG2
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_5
5q34 |
| gptkbp:mutationAssociatedWith |
can cause epilepsy syndromes
|
| gptkbp:OMIM |
137164
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
gptkb:Gabrg2
|
| gptkbp:proteinFamily |
gptkb:Cys-loop_ligand-gated_ion_channel_family
|
| gptkbp:UniProtID |
P18507
|
| gptkbp:bfsParent |
gptkb:GABRA5
gptkb:GABA-A_receptor_complex |
| gptkbp:bfsLayer |
8
|