|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:ECA2
gptkb:GABRG-2
gamma-aminobutyric acid type A receptor gamma2 subunit
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Dravet_syndrome
gptkb:childhood_absence_epilepsy
epilepsy
generalized epilepsy with febrile seizures plus
|
|
gptkbp:discoveredBy
|
gptkb:Möhler_et_al.
|
|
gptkbp:encodes
|
gamma-aminobutyric acid receptor subunit gamma-2
|
|
gptkbp:Entrez_Gene_ID
|
2566
ENSG00000182872
|
|
gptkbp:expressedIn
|
brain
|
|
gptkbp:firstDescribed
|
1991
|
|
gptkbp:function
|
codes for a subunit of the GABA-A receptor
involved in inhibitory neurotransmission
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
HGNC:4093
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GABRG2 gene
|
|
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:pathway
|
gptkb:GABAergic_synapse
gptkb:Neuroactive_ligand-receptor_interaction
|
|
gptkbp:product
|
GABA-A receptor gamma-2 subunit
|
|
gptkbp:UniProtID
|
P18507
|
|
gptkbp:bfsParent
|
gptkb:GABA_A_receptor
|
|
gptkbp:bfsLayer
|
6
|