|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:GABRA5
gptkb:GABRG3
gptkb:autism_spectrum_disorder
gptkb:Angelman_syndrome
gptkb:Prader-Willi_syndrome
gptkb:UBE3A
epilepsy
|
|
gptkbp:biologicalProcess
|
GABA-A receptor activity
synaptic transmission, GABAergic
|
|
gptkbp:discoveredBy
|
gene mapping studies
|
|
gptkbp:encodes
|
GABA-A receptor beta3 subunit protein
|
|
gptkbp:Entrez_Gene_ID
|
2562
ENSG00000182872
|
|
gptkbp:expressedIn
|
brain
|
|
gptkbp:fullName
|
gamma-aminobutyric acid type A receptor beta3 subunit
|
|
gptkbp:function
|
inhibitory neurotransmission
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
HGNC:4093
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GABRB3 (human)
|
|
gptkbp:length
|
over 100 kb
|
|
gptkbp:locatedIn
|
15q11-q13 region
|
|
gptkbp:locatedOnChromosome
|
15
15q12
|
|
gptkbp:mutationAssociatedWith
|
neurological disorders
|
|
gptkbp:OMIM
|
137192
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Gabrb3
|
|
gptkbp:proteinFamily
|
gptkb:Cys-loop_ligand-gated_ion_channel_family
|
|
gptkbp:UniProtID
|
P28472
|
|
gptkbp:bfsParent
|
gptkb:Gabrb3
|
|
gptkbp:bfsLayer
|
8
|