|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
epilepsy
neurodevelopmental disorders
generalized epilepsy with febrile seizures plus
|
|
gptkbp:biologicalProcess
|
GABA-A receptor activity
synaptic transmission, GABAergic
chloride ion transport
|
|
gptkbp:chromosomeArm
|
p36.3
|
|
gptkbp:discoveredIn
|
1992
|
|
gptkbp:encodes
|
GABA-A receptor delta subunit protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:GABRD
2563
ENSG00000171631
|
|
gptkbp:expressedIn
|
gptkb:cerebellum
brain
hippocampus
|
|
gptkbp:fullName
|
gamma-aminobutyric acid type A receptor delta subunit
|
|
gptkbp:function
|
mediates inhibitory neurotransmission
forms part of the GABA-A receptor complex
|
|
gptkbp:HGNC_ID
|
4147
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GABRD
|
|
gptkbp:locatedOnChromosome
|
1
|
|
gptkbp:OMIM
|
137163
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Gabrd
|
|
gptkbp:proteinFamily
|
gptkb:voltage-gated_potassium_channel
Cys-loop receptor
|
|
gptkbp:RefSeq
|
NM_000815
|
|
gptkbp:subcellularLocation
|
gptkb:cell_membrane
|
|
gptkbp:subunit
|
gptkb:GABA-A_receptor
|
|
gptkbp:UniProtID
|
O14764
|
|
gptkbp:bfsParent
|
gptkb:1p36_region
gptkb:chromosome_1p36.22
gptkb:chromosome_1p36.2
|
|
gptkbp:bfsLayer
|
7
|