ENSG00000125675


Homo sapiens

Features
Gene ID: ENSG00000125675
  
Biological name :GRIA3
  
Synonyms : glutamate ionotropic receptor AMPA type subunit 3 / GRIA3 / P42263
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q25
Gene start: 123184153
Gene end: 123490915
  
Corresponding Affymetrix probe sets: 1569290_s_at (Human Genome U133 Plus 2.0 Array)   206730_at (Human Genome U133 Plus 2.0 Array)   208032_s_at (Human Genome U133 Plus 2.0 Array)   217565_at (Human Genome U133 Plus 2.0 Array)   230144_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000479607
Ensembl peptide - ENSP00000481875
Ensembl peptide - ENSP00000481554
Ensembl peptide - ENSP00000446440
Ensembl peptide - ENSP00000478489
Ensembl peptide - ENSP00000478758
NCBI entrez gene - 2892     See in Manteia.
OMIM - 305915
RefSeq - NM_000828
RefSeq - NM_001256743
RefSeq - NM_007325
RefSeq Peptide - NP_001243672
RefSeq Peptide - NP_000819
RefSeq Peptide - NP_015564
swissprot - Q5XKG2
swissprot - P42263
swissprot - A0A087WYJ6
Ensembl - ENSG00000125675
  
Related genetic diseases (OMIM): 300699 - Mental retardation, X-linked 94, 300699
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 gria3aENSDARG00000032737Danio rerio
 gria3bENSDARG00000037498Danio rerio
 GRIA3ENSGALG00000034109Gallus gallus
 Gria3ENSMUSG00000001986Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GRIA4 / P48058 / glutamate ionotropic receptor AMPA type subunit 4ENSG0000015257871
GRIA2 / P42262 / glutamate ionotropic receptor AMPA type subunit 2ENSG0000012025170
GRIA1 / P42261 / glutamate ionotropic receptor AMPA type subunit 1ENSG0000015551166
GRIK2 / Q13002 / glutamate ionotropic receptor kainate type subunit 2ENSG0000016441838
GRIK1 / P39086 / glutamate ionotropic receptor kainate type subunit 1ENSG0000017118938
GRIK3 / Q13003 / glutamate ionotropic receptor kainate type subunit 3ENSG0000016387336
GRIK4 / Q16099 / glutamate ionotropic receptor kainate type subunit 4ENSG0000014940335
GRIK5 / Q16478 / glutamate ionotropic receptor kainate type subunit 5ENSG0000010573734
GRID1 / Q9ULK0 / glutamate ionotropic receptor delta type subunit 1ENSG0000018277126
GRID2 / O43424 / glutamate ionotropic receptor delta type subunit 2ENSG0000015220825
GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2CENSG0000016150921
GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1ENSG0000017688420
GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2BENSG0000027307920
GRIN2D / O15399 / glutamate ionotropic receptor NMDA type subunit 2DENSG0000010546420
GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2AENSG0000018345420
GRIN3B / O60391 / glutamate ionotropic receptor NMDA type subunit 3BENSG0000011603219
GRIN3A / Q8TCU5 / glutamate ionotropic receptor NMDA type subunit 3AENSG0000019878518


Protein motifs (from Interpro)
Interpro ID Name
 IPR001320  Ionotropic glutamate receptor
 IPR001508  Ionotropic glutamate receptor, metazoa
 IPR001828  Receptor, ligand binding region
 IPR019594  Ionotropic glutamate receptor, L-glutamate and glycine-binding domain
 IPR028082  Periplasmic binding protein-like I


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0007215 glutamate receptor signaling pathway TAS
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0035235 ionotropic glutamate receptor signaling pathway IEA
 biological_processGO:0060079 excitatory postsynaptic potential IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030666 endocytic vesicle membrane TAS
 cellular_componentGO:0032281 AMPA glutamate receptor complex IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 molecular_functionGO:0001540 amyloid-beta binding ISS
 molecular_functionGO:0004970 ionotropic glutamate receptor activity IEA
 molecular_functionGO:0004971 AMPA glutamate receptor activity IDA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005231 excitatory extracellular ligand-gated ion channel activity TAS
 molecular_functionGO:0005234 extracellularly glutamate-gated ion channel activity IEA


Pathways (from Reactome)
Pathway description
Activation of AMPA receptors
Trafficking of AMPA receptors
Trafficking of GluR2-containing AMPA receptors
Unblocking of NMDA receptor, glutamate binding and activation
Synaptic adhesion-like molecules


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000248 Brachycephaly "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators]
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 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0000336 Prominent supraorbital ridges "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators]
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 HP:0000490 Deep set eyes 
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 HP:0000717 Autism 
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 HP:0000718 Aggressive behavior "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001265 Hyporeflexia 
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 HP:0001336 Myoclonus "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001533 Asthenic habitus "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:curators]
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 HP:0002460 Distal muscle weakness "Reduced strength of the distal musculature." [HPO:curators]
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0010864 Mental retardation, severe "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000120251 GRIA2 / P42262 / glutamate ionotropic receptor AMPA type subunit 2  / reaction / complex
 ENSG00000155511 GRIA1 / P42261 / glutamate ionotropic receptor AMPA type subunit 1  / reaction / complex
 ENSG00000152578 GRIA4 / P48058 / glutamate ionotropic receptor AMPA type subunit 4  / complex / reaction
 ENSG00000183020 AP2A2 / O94973 / adaptor related protein complex 2 alpha 2 subunit  / reaction
 ENSG00000196961 AP2A1 / O95782 / adaptor related protein complex 2 alpha 1 subunit  / reaction
 ENSG00000155974 GRIP1 / Q9Y3R0 / glutamate receptor interacting protein 1  / reaction
 ENSG00000100151 PICK1 / Q9NRD5 / protein interacting with PRKCA 1  / reaction
 ENSG00000161203 AP2M1 / Q96CW1 / adaptor related protein complex 2 mu 1 subunit  / reaction
 ENSG00000148660 CAMK2G / Q13555 / calcium/calmodulin dependent protein kinase II gamma  / reaction
 ENSG00000105464 GRIN2D / O15399 / glutamate ionotropic receptor NMDA type subunit 2D  / reaction
 ENSG00000070808 CAMK2A / Q9UQM7 / calcium/calmodulin dependent protein kinase II alpha  / reaction
 ENSG00000176884 GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1  / reaction
 ENSG00000033122 LRRC7 / Q96NW7 / leucine rich repeat containing 7  / reaction
 ENSG00000161509 GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2C  / reaction
 ENSG00000183454 GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2A  / reaction
 ENSG00000273079 GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2B  / reaction
 ENSG00000058404 CAMK2B / Q13554 / calcium/calmodulin dependent protein kinase II beta  / reaction
 ENSG00000128011 LRFN1 / Q9P244 / leucine rich repeat and fibronectin type III domain containing 1  / reaction / complex
 ENSG00000042753 AP2S1 / P53680 / adaptor related protein complex 2 sigma 1 subunit  / reaction
 ENSG00000125675 GRIA3 / P42263 / glutamate ionotropic receptor AMPA type subunit 3  / reaction / complex
 ENSG00000082458 DLG3 / Q92796 / discs large MAGUK scaffold protein 3  / reaction
 ENSG00000277586 NEFL / P07196 / neurofilament light  / reaction
 ENSG00000006125 AP2B1 / P63010 / adaptor related protein complex 2 beta 1 subunit  / reaction
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / reaction
 ENSG00000145349 CAMK2D / Q13557 / calcium/calmodulin dependent protein kinase II delta  / reaction
 ENSG00000075711 DLG1 / Q12959 / discs large MAGUK scaffold protein 1  / reaction
 ENSG00000077522 ACTN2 / P35609 / actinin alpha 2  / reaction
 ENSG00000150672 DLG2 / Q15700 / discs large MAGUK scaffold protein 2  / reaction
 ENSG00000127914 AKAP9 / Q99996 / A-kinase anchoring protein 9  / reaction






 

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