Entity Details

Primary name GRIA3
Entity type gene
Source Source Link

Details

PrimaryID2892
RefseqGeneNG_009377
SymbolGRIA3
Nameglutamate ionotropic receptor AMPA type subunit 3
ChromosomeX
LocationXq25
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-17
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsGRIA3_HUMAN

GO terms

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GOName
GO:0001540 amyloid-beta binding
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:0043197 dendritic spine
GO:0045211 postsynaptic membrane
GO:0098688 parallel fiber to Purkinje cell synapse
GO:1904315 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential
GO:2000310 regulation of NMDA receptor activity

Diseases

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Disease IDSourceNameDescription
300699 OMIMMental retardation, X-linked 94 (MRX94)A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX94 patients have moderate mental retardation. Other variable features are macrocephaly, seizures, myoclonic jerks, autistic behavior, asthenic body habitus, distal muscle weakness and hyporeflexia. The disease is caused by variants affecting the gene represented in this entry.