ENSG00000273079


Homo sapiens

Features
Gene ID: ENSG00000273079
  
Biological name :GRIN2B
  
Synonyms : glutamate ionotropic receptor NMDA type subunit 2B / GRIN2B / Q13224
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: -1
Band: p13.1
Gene start: 13437942
Gene end: 13981957
  
Corresponding Affymetrix probe sets: 210411_s_at (Human Genome U133 Plus 2.0 Array)   210412_at (Human Genome U133 Plus 2.0 Array)   239095_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000486411
Ensembl peptide - ENSP00000489997
Ensembl peptide - ENSP00000486677
Ensembl peptide - ENSP00000477455
NCBI entrez gene - 2904     See in Manteia.
OMIM - 138252
RefSeq - XM_011520628
RefSeq - XM_011520629
RefSeq - XM_017019219
RefSeq - NM_000834
RefSeq - XM_005253351
RefSeq Peptide - NP_000825
swissprot - Q13224
swissprot - A0A0D9SFK0
swissprot - A0A1B0GU78
Ensembl - ENSG00000273079
  
Related genetic diseases (OMIM): 613970 - Mental retardation, autosomal dominant 6, 613970
  616139 - Epileptic encephalopathy, early infantile, 27, 616139
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
 grin2bbENSDARG00000030376Danio rerio
 LO018552.1ENSDARG00000079348Danio rerio
 ENSGALG00000011809Gallus gallus
 ENSGALG00000041348Gallus gallus
 Grin2bENSMUSG00000030209Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2AENSG0000018345452
GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2CENSG0000016150936
GRIN2D / O15399 / glutamate ionotropic receptor NMDA type subunit 2DENSG0000010546435
GRIN3A / Q8TCU5 / glutamate ionotropic receptor NMDA type subunit 3AENSG0000019878517
GRIN3B / O60391 / glutamate ionotropic receptor NMDA type subunit 3BENSG0000011603216
GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1ENSG0000017688416
GRID2 / O43424 / glutamate ionotropic receptor delta type subunit 2ENSG0000015220813
GRIA4 / P48058 / glutamate ionotropic receptor AMPA type subunit 4ENSG0000015257813
GRIK4 / Q16099 / glutamate ionotropic receptor kainate type subunit 4ENSG0000014940313
GRIA1 / P42261 / glutamate ionotropic receptor AMPA type subunit 1ENSG0000015551113
GRIK1 / P39086 / glutamate ionotropic receptor kainate type subunit 1ENSG0000017118912
GRIA2 / P42262 / glutamate ionotropic receptor AMPA type subunit 2ENSG0000012025112
GRIK3 / Q13003 / glutamate ionotropic receptor kainate type subunit 3ENSG0000016387312
GRIK2 / Q13002 / glutamate ionotropic receptor kainate type subunit 2ENSG0000016441812
GRIK5 / Q16478 / glutamate ionotropic receptor kainate type subunit 5ENSG0000010573712
GRID1 / Q9ULK0 / glutamate ionotropic receptor delta type subunit 1ENSG0000018277112
GRIA3 / P42263 / glutamate ionotropic receptor AMPA type subunit 3ENSG0000012567512


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:0006811 ion transport IEA
 biological_processGO:0007215 glutamate receptor signaling pathway TAS
 biological_processGO:0007268 chemical synaptic transmission TAS
 biological_processGO:0007275 multicellular organism development TAS
 biological_processGO:0007420 brain development NAS
 biological_processGO:0007611 learning or memory ISS
 biological_processGO:0019722 calcium-mediated signaling IEA
 biological_processGO:0035235 ionotropic glutamate receptor signaling pathway IEA
 biological_processGO:0045471 response to ethanol IDA
 biological_processGO:0048013 ephrin receptor signaling pathway TAS
 biological_processGO:0048167 regulation of synaptic plasticity NAS
 biological_processGO:0051290 protein heterotetramerization ISS
 biological_processGO:0060079 excitatory postsynaptic potential IEA
 biological_processGO:0097553 calcium ion transmembrane import into cytosol IMP
 biological_processGO:0098976 excitatory chemical synaptic transmission NAS
 biological_processGO:1901216 positive regulation of neuron death ISS
 biological_processGO:1902951 negative regulation of dendritic spine maintenance ISS
 biological_processGO:2001056 positive regulation of cysteine-type endopeptidase activity ISS
 cellular_componentGO:0005622 intracellular ISS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 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:0043005 neuron projection ISS
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane TAS
 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:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding ISS
 molecular_functionGO:0016594 glycine binding IDA
 molecular_functionGO:0016595 glutamate binding ISS
 molecular_functionGO:0022849 glutamate-gated calcium ion channel activity IMP
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
EPHB-mediated forward signaling
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
Activated NTRK2 signals through FYN


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: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:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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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:0001344 Absent speech development 
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 HP:0002353 EEG abnormalities "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain s spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators]
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 HP:0002376 Developmental regression 
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 HP:0002521 Hypsarrhythmia "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes demonstrated by electroencephalography (EEG)." [HPO:curators]
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 HP:0003828 Variable expressivity 
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 HP:0011121 Abnormality of skin morphology "Any morphological abnormality of the `skin` (FMA:7163)." [HPO:probinson]
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 HP:0012469 Infantile spasms "Infantile spasms represent a subset of "epileptic spasms". Infantile Spasms are epileptic spasms starting in the first year of life (infancy)." [HPO:ihelbig]
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 HP:0200134 Epileptic encephalopathy 
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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
 ENSG00000010810 FYN / P06241 / FYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000105464 GRIN2D / O15399 / glutamate ionotropic receptor NMDA type subunit 2D  / complex
 ENSG00000113319 O14827 / RASGRF2 / Ras protein specific guanine nucleotide releasing factor 2  / complex / reaction
 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
 ENSG00000156299 TIAM1 / Q13009 / T cell lymphoma invasion and metastasis 1  / reaction / complex
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / reaction / complex
 ENSG00000148053 NTRK2 / Q16620 / neurotrophic receptor tyrosine kinase 2  / 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
 ENSG00000183454 GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2A  / complex
 ENSG00000176697 BDNF / P23560 / brain derived neurotrophic factor  / complex
 ENSG00000127914 AKAP9 / Q99996 / A-kinase anchoring protein 9  / complex
 ENSG00000183092 BEGAIN / Q9BUH8 / brain enriched guanylate kinase associated  / complex / reaction
 ENSG00000070808 CAMK2A / Q9UQM7 / calcium/calmodulin dependent protein kinase II alpha  / complex / reaction
 ENSG00000176884 GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1  / complex
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / reaction / complex
 ENSG00000075711 DLG1 / Q12959 / discs large MAGUK scaffold protein 1  / complex
 ENSG00000197555 O43166 / SIPA1L1 / signal induced proliferation associated 1 like 1  / complex / reaction
 ENSG00000077522 ACTN2 / P35609 / actinin alpha 2  / 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
 ENSG00000277586 NEFL / P07196 / neurofilament light  / complex
 ENSG00000125266 EFNB2 / P52799 / ephrin B2  / reaction / complex
 ENSG00000163110 PDLIM5 / Q96HC4 / PDZ and LIM domain 5  / reaction / complex
 ENSG00000156564 LRFN2 / Q9ULH4 / leucine rich repeat and fibronectin type III domain containing 2  / complex / reaction
 ENSG00000090776 EFNB1 / P98172 / ephrin B1  / complex / reaction
 ENSG00000161509 GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2C  / complex
 ENSG00000108947 EFNB3 / Q15768 / ephrin B3  / reaction / complex
 ENSG00000273079 GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2B  / complex
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000128011 LRFN1 / Q9P244 / leucine rich repeat and fibronectin type III domain containing 1  / complex / reaction
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / complex / reaction
 ENSG00000254087 LYN / P07948 / LYN proto-oncogene, Src family tyrosine kinase  / complex / reaction
 ENSG00000176105 YES1 / P07947 / YES proto-oncogene 1, Src family tyrosine kinase  / complex / reaction






 

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