ENSG00000183454


Homo sapiens

Features
Gene ID: ENSG00000183454
  
Biological name :GRIN2A
  
Synonyms : glutamate ionotropic receptor NMDA type subunit 2A / GRIN2A / Q12879
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 16
Strand: -1
Band: p13.2
Gene start: 9753404
Gene end: 10182754
  
Corresponding Affymetrix probe sets: 206534_at (Human Genome U133 Plus 2.0 Array)   231384_at (Human Genome U133 Plus 2.0 Array)   242286_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000454998
Ensembl peptide - ENSP00000441572
Ensembl peptide - ENSP00000489946
Ensembl peptide - ENSP00000490676
Ensembl peptide - ENSP00000490232
Ensembl peptide - ENSP00000332549
Ensembl peptide - ENSP00000379818
NCBI entrez gene - 2903     See in Manteia.
OMIM - 138253
RefSeq - XM_017023173
RefSeq - NM_000833
RefSeq - NM_001134407
RefSeq - NM_001134408
RefSeq - XM_011522458
RefSeq - XM_011522461
RefSeq - XM_017023172
RefSeq Peptide - NP_000824
RefSeq Peptide - NP_001127879
RefSeq Peptide - NP_001127880
swissprot - A0A1B0GVW1
swissprot - A0A1B0GUT1
swissprot - F5GZ52
swissprot - Q12879
swissprot - Q547U9
swissprot - A0A1B0GU35
Ensembl - ENSG00000183454
  
Related genetic diseases (OMIM): 245570 - Epilepsy, focal, with speech disorder and with or without mental retardation, 245570
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
 grin2aaENSDARG00000034493Danio rerio
 grin2abENSDARG00000070543Danio rerio
 GRIN2AENSGALG00000007278Gallus gallus
 Grin2aENSMUSG00000059003Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2BENSG0000027307953
GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2CENSG0000016150938
GRIN2D / O15399 / glutamate ionotropic receptor NMDA type subunit 2DENSG0000010546436
GRIN3A / Q8TCU5 / glutamate ionotropic receptor NMDA type subunit 3AENSG0000019878517
GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1ENSG0000017688416
GRIN3B / O60391 / glutamate ionotropic receptor NMDA type subunit 3BENSG0000011603216
GRID2 / O43424 / glutamate ionotropic receptor delta type subunit 2ENSG0000015220813
GRIK1 / P39086 / glutamate ionotropic receptor kainate type subunit 1ENSG0000017118913
GRIK2 / Q13002 / glutamate ionotropic receptor kainate type subunit 2ENSG0000016441813
GRIK3 / Q13003 / glutamate ionotropic receptor kainate type subunit 3ENSG0000016387313
GRIA1 / P42261 / glutamate ionotropic receptor AMPA type subunit 1ENSG0000015551113
GRIK4 / Q16099 / glutamate ionotropic receptor kainate type subunit 4ENSG0000014940313
GRIK5 / Q16478 / glutamate ionotropic receptor kainate type subunit 5ENSG0000010573713
GRIA2 / P42262 / glutamate ionotropic receptor AMPA type subunit 2ENSG0000012025112
GRID1 / Q9ULK0 / glutamate ionotropic receptor delta type subunit 1ENSG0000018277112
GRIA3 / P42263 / glutamate ionotropic receptor AMPA type subunit 3ENSG0000012567512
GRIA4 / P48058 / glutamate ionotropic receptor AMPA type subunit 4ENSG0000015257812


Protein motifs (from Interpro)
Interpro ID Name
 IPR001320  Ionotropic glutamate receptor
 IPR001508  Ionotropic glutamate receptor, metazoa
 IPR001828  Receptor, ligand binding region
 IPR018884  Glutamate [NMDA] receptor, epsilon subunit, C-terminal
 IPR019594  Ionotropic glutamate receptor, L-glutamate and glycine-binding domain
 IPR028082  Periplasmic binding protein-like I


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0001964 startle response IEA
 biological_processGO:0001975 response to amphetamine IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0007215 glutamate receptor signaling pathway TAS
 biological_processGO:0007268 chemical synaptic transmission TAS
 biological_processGO:0007420 brain development NAS
 biological_processGO:0007611 learning or memory TAS
 biological_processGO:0007612 learning IEA
 biological_processGO:0007613 memory IEA
 biological_processGO:0008542 visual learning IEA
 biological_processGO:0009611 response to wounding IEA
 biological_processGO:0019233 sensory perception of pain IEA
 biological_processGO:0019722 calcium-mediated signaling IEA
 biological_processGO:0022008 neurogenesis IEA
 biological_processGO:0030431 sleep IEA
 biological_processGO:0033058 directional locomotion IEA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0035235 ionotropic glutamate receptor signaling pathway IEA
 biological_processGO:0040011 locomotion IEA
 biological_processGO:0042177 negative regulation of protein catabolic process IEA
 biological_processGO:0042391 regulation of membrane potential IEA
 biological_processGO:0042417 dopamine metabolic process IEA
 biological_processGO:0042428 serotonin metabolic process IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0043065 positive regulation of apoptotic process IEA
 biological_processGO:0045471 response to ethanol IDA
 biological_processGO:0048167 regulation of synaptic plasticity NAS
 biological_processGO:0050804 modulation of chemical synaptic transmission IEA
 biological_processGO:0051930 regulation of sensory perception of pain IEA
 biological_processGO:0060078 regulation of postsynaptic membrane potential IEA
 biological_processGO:0060079 excitatory postsynaptic potential IEA
 biological_processGO:0060291 long-term synaptic potentiation IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:0097202 activation of cysteine-type endopeptidase activity TAS
 biological_processGO:0097553 calcium ion transmembrane import into cytosol IMP
 biological_processGO:0098655 cation transmembrane transport IEA
 biological_processGO:0098976 excitatory chemical synaptic transmission NAS
 biological_processGO:1900273 positive regulation of long-term synaptic potentiation IEA
 biological_processGO:1903539 protein localization to postsynaptic membrane IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0008021 synaptic vesicle IEA
 cellular_componentGO:0009986 cell surface ISS
 cellular_componentGO:0014069 postsynaptic density ISS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0017146 NMDA selective glutamate receptor complex IDA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0042734 presynaptic membrane IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 cellular_componentGO:0098839 postsynaptic density membrane IEA
 cellular_componentGO:0099061 integral component of postsynaptic density membrane IEA
 molecular_functionGO:0004970 ionotropic glutamate receptor activity IEA
 molecular_functionGO:0004972 NMDA glutamate receptor activity TAS
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005234 extracellularly glutamate-gated ion channel activity IEA
 molecular_functionGO:0005261 cation channel activity IEA
 molecular_functionGO:0005262 calcium channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding ISS
 molecular_functionGO:0022849 glutamate-gated calcium ion channel activity IMP
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Unblocking of NMDA receptor, glutamate binding and activation
CREB phosphorylation through the activation of CaMKII
Ras activation upon Ca2+ influx through NMDA receptor
RAF/MAP kinase cascade
Neurexins and neuroligins
Synaptic adhesion-like molecules


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000708 Behavioural/Psychiatric Abnormality 
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 HP:0000750 Impaired language development 
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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:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0002357 Dysphasia 
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 HP:0002381 Aphasia 
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 HP:0003828 Variable expressivity 
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 HP:0003829 Incomplete penetrance 
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 HP:0007018 Attention deficit hyperactivity disorder "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators]
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 HP:0010524 Agnosia "Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions." [HPO:curators]
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 HP:0011098 Speech apraxia "A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur." [HPO:probinson]
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 HP:0012557 EEG with centrotemporal focal spike waves "EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000033122 LRRC7 / Q96NW7 / leucine rich repeat containing 7  / complex
 ENSG00000082458 DLG3 / Q92796 / discs large MAGUK scaffold protein 3  / complex / reaction
 ENSG00000113319 O14827 / RASGRF2 / Ras protein specific guanine nucleotide releasing factor 2  / reaction / complex
 ENSG00000120251 GRIA2 / P42262 / glutamate ionotropic receptor AMPA type subunit 2  / reaction
 ENSG00000058404 CAMK2B / Q13554 / calcium/calmodulin dependent protein kinase II beta  / complex / reaction
 ENSG00000155511 GRIA1 / P42261 / glutamate ionotropic receptor AMPA type subunit 1  / reaction
 ENSG00000152578 GRIA4 / P48058 / glutamate ionotropic receptor AMPA type subunit 4  / reaction
 ENSG00000150672 DLG2 / Q15700 / discs large MAGUK scaffold protein 2  / complex / reaction
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / reaction / complex
 ENSG00000148660 CAMK2G / Q13555 / calcium/calmodulin dependent protein kinase II gamma  / complex / reaction
 ENSG00000145349 CAMK2D / Q13557 / calcium/calmodulin dependent protein kinase II delta  / complex / reaction
 ENSG00000277586 NEFL / P07196 / neurofilament light  / complex
 ENSG00000161509 GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2C  / complex
 ENSG00000156564 LRFN2 / Q9ULH4 / leucine rich repeat and fibronectin type III domain containing 2  / complex / reaction
 ENSG00000105464 GRIN2D / O15399 / glutamate ionotropic receptor NMDA type subunit 2D  / complex
 ENSG00000128011 LRFN1 / Q9P244 / leucine rich repeat and fibronectin type III domain containing 1  / complex / reaction
 ENSG00000273079 GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2B  / complex
 ENSG00000163110 PDLIM5 / Q96HC4 / PDZ and LIM domain 5  / reaction / complex
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / reaction / complex
 ENSG00000077522 ACTN2 / P35609 / actinin alpha 2  / complex
 ENSG00000183454 GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2A  / complex
 ENSG00000070808 CAMK2A / Q9UQM7 / calcium/calmodulin dependent protein kinase II alpha  / reaction / complex
 ENSG00000127914 AKAP9 / Q99996 / A-kinase anchoring protein 9  / complex
 ENSG00000183092 BEGAIN / Q9BUH8 / brain enriched guanylate kinase associated  / reaction / complex
 ENSG00000176884 GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1  / complex
 ENSG00000075711 DLG1 / Q12959 / discs large MAGUK scaffold protein 1  / complex
 ENSG00000197555 O43166 / SIPA1L1 / signal induced proliferation associated 1 like 1  / reaction / complex
 ENSG00000058335 Q13972 / RASGRF1 / Ras protein specific guanine nucleotide releasing factor 1  / reaction / complex
 ENSG00000125675 GRIA3 / P42263 / glutamate ionotropic receptor AMPA type subunit 3  / reaction






 

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