GRIA2 gene

GPTKB entity

Statements (54)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName GLUR2
GluR-K2
GluR2
gptkbp:associatedWith epilepsy
intellectual disability
neurodevelopmental disorders
gptkbp:biologicalProcess synaptic transmission
learning and memory
glutamate receptor activity
gptkbp:discoveredBy researchers studying glutamate receptors
gptkbp:encodes GluA2 protein
gptkbp:Entrez_Gene_ID 2891
ENSG00000183454
gptkbp:expressedIn brain
central nervous system
gptkbp:fullName glutamate ionotropic receptor AMPA type subunit 2
gptkbp:function codes for a subunit of the AMPA receptor
involved in fast excitatory synaptic transmission in the CNS
gptkbp:HGNC_ID HGNC:4584
https://www.w3.org/2000/01/rdf-schema#label GRIA2 gene
gptkbp:interactsWith gptkb:PSD-95
gptkb:GRIA1_gene
gptkb:GRIA3_gene
gptkb:GRIA4_gene
stargazin
TARPs (transmembrane AMPA receptor regulatory proteins)
gptkbp:locatedOnChromosome gptkb:chromosome_4
4q32.1
gptkbp:mutationAssociatedWith gptkb:autism_spectrum_disorder
intellectual disability
seizures
developmental delay
GRIA2-related neurodevelopmental disorder
can alter calcium permeability of AMPA receptors
gptkbp:OMIM 138247
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse Gria2
gptkbp:pathway glutamatergic synapse
neurotransmitter receptor binding and downstream transmission
gptkbp:postTranscriptionalModification RNA editing
gptkbp:postTranslationalModification palmitoylation
phosphorylation
ubiquitination
gptkbp:product AMPA receptor subunit GluA2
tetrameric assembly in AMPA receptors
gptkbp:proteinFamily ionotropic glutamate receptor family
gptkbp:regulates RNA editing at Q/R site
gptkbp:splicingVariant flip
flop
gptkbp:UniProtID P42262
gptkbp:bfsParent gptkb:AMPA_receptors
gptkb:GluA2
gptkbp:bfsLayer 8