Entity Details

Primary name GRIA4
Entity type gene
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Details

PrimaryID2893
RefseqGene
SymbolGRIA4
Nameglutamate ionotropic receptor AMPA type subunit 4
Chromosome11
Location11q22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGRIA4_HUMAN

GO terms

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GOName
GO:0001540 amyloid-beta binding
GO:0004970 ionotropic glutamate receptor activity
GO:0004971 AMPA glutamate receptor activity
GO:0005886 plasma membrane
GO:0007215 glutamate receptor signaling pathway
GO:0007268 chemical synaptic transmission
GO:0015276 ligand-gated ion channel activity
GO:0030666 endocytic vesicle membrane
GO:0032281 AMPA glutamate receptor complex
GO:0038023 signaling receptor activity
GO:0043025 neuronal cell body
GO:0043197 dendritic spine
GO:0045211 postsynaptic membrane
GO:1903561 extracellular vesicle
GO:2000310 regulation of NMDA receptor activity

Diseases

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Disease IDSourceNameDescription
617864 OMIMNeurodevelopmental disorder with or without seizures and gait abnormalities (NEDSGA)An autosomal dominant neurodevelopmental disorder characterized by global developmental delay apparent from infancy or early childhood, mild to profound intellectual disability, hypertonia early in life, which progresses to spasticity and impaired gait later, and behavioral abnormalities. Some patients may develop seizures of variable severity early in life. The disease is caused by variants affecting the gene represented in this entry.