|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
GLUR4
GluR-D
GluR4
HBGR1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
epilepsy
intellectual disability
neurodevelopmental disorders
synaptic transmission
excitatory neurotransmission
|
|
gptkbp:biologicalProcess
|
regulation of membrane potential
synaptic signaling
glutamate receptor activity
|
|
gptkbp:cellularComponent
|
postsynaptic membrane
dendrite
|
|
gptkbp:discoveredIn
|
1992
|
|
gptkbp:encodes
|
GluA4 protein
|
|
gptkbp:Entrez_Gene_ID
|
2893
ENSG00000100368
|
|
gptkbp:expressedIn
|
gptkb:cerebellum
brain
hippocampus
|
|
gptkbp:fullName
|
glutamate ionotropic receptor AMPA type subunit 4
|
|
gptkbp:function
|
codes for a subunit of the AMPA-sensitive glutamate receptor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
multiple
|
|
gptkbp:HGNC_ID
|
gptkb:GRIA4
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
GRIA4 gene
|
|
gptkbp:interactsWith
|
gptkb:GRIA1
gptkb:GRIA2
gptkb:GRIA3
gptkb:PSD-95
GRIP1
PICK1
|
|
gptkbp:length
|
~120 kb
|
|
gptkbp:locatedOnChromosome
|
gptkb:11q22.3
chromosome 11
|
|
gptkbp:mutationAssociatedWith
|
can cause neurodevelopmental disorders
|
|
gptkbp:numberOfExons
|
17
|
|
gptkbp:OMIM
|
605899
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Gria4
|
|
gptkbp:pathway
|
neuroactive ligand-receptor interaction
glutamatergic synapse
|
|
gptkbp:product
|
gptkb:GluA4
|
|
gptkbp:proteinFamily
|
AMPA receptor subunits
|
|
gptkbp:RefSeq
|
NM_000831
|
|
gptkbp:relatedProteinComplex
|
gptkb:AMPA_receptor
|
|
gptkbp:UniProtID
|
P48058
|
|
gptkbp:bfsParent
|
gptkb:AMPA_receptors
gptkb:GluA4
gptkb:chromosome_20_(GRIA4)
|
|
gptkbp:bfsLayer
|
8
|