Gene GRIN2B - ENSG00000273079 | NCBI Gene ID: 2904

Details for: GRIN2B

Gene ID: 2904

Symbol: GRIN2B

Ensembl ID: ENSG00000273079

Description: glutamate ionotropic receptor NMDA type subunit 2B

Associated with

Activated ntrk2 signals through fyn
(R-HSA-9032500)
Activation of nmda receptors and postsynaptic events
(R-HSA-442755)
Assembly and cell surface presentation of nmda receptors
(R-HSA-9609736)
Axon guidance
(R-HSA-422475)
Creb1 phosphorylation through nmda receptor-mediated activation of ras signaling
(R-HSA-442742)
Developmental biology
(R-HSA-1266738)
Eph-ephrin signaling
(R-HSA-2682334)
Ephb-mediated forward signaling
(R-HSA-3928662)
Gene expression (transcription)
(R-HSA-74160)
Generic transcription pathway
(R-HSA-212436)
Long-term potentiation
(R-HSA-9620244)
Mapk1/mapk3 signaling
(R-HSA-5684996)
Mapk family signaling cascades
(R-HSA-5683057)
Mecp2 regulates neuronal receptors and channels
(R-HSA-9022699)
Negative regulation of nmda receptor-mediated neuronal transmission
(R-HSA-9617324)
Nervous system development
(R-HSA-9675108)
Neurexins and neuroligins
(R-HSA-6794361)
Neuronal system
(R-HSA-112316)
Neurotransmitter receptors and postsynaptic signal transmission
(R-HSA-112314)
Post nmda receptor activation events
(R-HSA-438064)
Protein-protein interactions at synapses
(R-HSA-6794362)
Raf/map kinase cascade
(R-HSA-5673001)
Ras activation upon ca2+ influx through nmda receptor
(R-HSA-442982)
Rna polymerase ii transcription
(R-HSA-73857)
Signaling by ntrk2 (trkb)
(R-HSA-9006115)
Signaling by ntrks
(R-HSA-166520)
Signaling by receptor tyrosine kinases
(R-HSA-9006934)
Signal transduction
(R-HSA-162582)
Synaptic adhesion-like molecules
(R-HSA-8849932)
Transcriptional regulation by mecp2
(R-HSA-8986944)
Transmission across chemical synapses
(R-HSA-112315)
Unblocking of nmda receptors, glutamate binding and activation
(R-HSA-438066)
Amyloid-beta binding
(GO:0001540)
Brain development
(GO:0007420)
Calcium-mediated signaling
(GO:0019722)
Calcium ion transmembrane import into cytosol
(GO:0097553)
Cell surface
(GO:0009986)
Chemical synaptic transmission
(GO:0007268)
Cytoplasm
(GO:0005737)
Cytoskeleton
(GO:0005856)
Endoplasmic reticulum membrane
(GO:0005789)
Excitatory chemical synaptic transmission
(GO:0098976)
Excitatory postsynaptic potential
(GO:0060079)
Glutamate-gated calcium ion channel activity
(GO:0022849)
Glutamate binding
(GO:0016595)
Glutamate receptor signaling pathway
(GO:0007215)
Glycine binding
(GO:0016594)
Ionotropic glutamate receptor signaling pathway
(GO:0035235)
Late endosome
(GO:0005770)
Learning or memory
(GO:0007611)
Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential
(GO:0099507)
Long-term synaptic potentiation
(GO:0060291)
Lysosome
(GO:0005764)
Monoatomic cation transmembrane transport
(GO:0098655)
Negative regulation of dendritic spine maintenance
(GO:1902951)
Neuron projection
(GO:0043005)
Nmda glutamate receptor activity
(GO:0004972)
Nmda selective glutamate receptor complex
(GO:0017146)
Plasma membrane
(GO:0005886)
Positive regulation of cysteine-type endopeptidase activity
(GO:2001056)
Positive regulation of excitatory postsynaptic potential
(GO:2000463)
Positive regulation of synaptic transmission, glutamatergic
(GO:0051968)
Postsynaptic density
(GO:0014069)
Postsynaptic density membrane
(GO:0098839)
Postsynaptic membrane
(GO:0045211)
Protein binding
(GO:0005515)
Protein heterotetramerization
(GO:0051290)
Regulation of monoatomic cation transmembrane transport
(GO:1904062)
Regulation of neuronal synaptic plasticity
(GO:0048168)
Regulation of presynaptic membrane potential
(GO:0099505)
Regulation of synaptic plasticity
(GO:0048167)
Response to ethanol
(GO:0045471)
Synaptic membrane
(GO:0097060)
Synaptic transmission, glutamatergic
(GO:0035249)
Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential
(GO:1904315)
Zinc ion binding
(GO:0008270)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
Fold Change: 7.12
Marker Score: 37369
Cell Name: stellate neuron (CL0000122)
Fold Change: 6
Marker Score: 32228
Cell Name: granule cell (CL0000120)
Fold Change: 5.24
Marker Score: 39506
Cell Name: neuronal brush cell (CL0000555)
Fold Change: 4.67
Marker Score: 15646
Cell Name: inhibitory interneuron (CL0000498)
Fold Change: 4.29
Marker Score: 19861
Cell Name: retinal bipolar neuron (CL0000748)
Fold Change: 3.76
Marker Score: 31826
Cell Name: macroglial cell (CL0000126)
Fold Change: 3.51
Marker Score: 8063
Cell Name: brainstem motor neuron (CL2000047)
Fold Change: 3.3
Marker Score: 1916
Cell Name: CNS interneuron (CL0000402)
Fold Change: 2.96
Marker Score: 1422
Cell Name: cerebral cortex neuron (CL0010012)
Fold Change: 2.96
Marker Score: 8434
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 2.9
Marker Score: 57653
Cell Name: pyramidal neuron (CL0000598)
Fold Change: 2.87
Marker Score: 4819
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 2.85
Marker Score: 21852
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 2.83
Marker Score: 42298
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 2.71
Marker Score: 102972
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 2.62
Marker Score: 10850
Cell Name: corneal endothelial cell (CL0000132)
Fold Change: 2.62
Marker Score: 1524
Cell Name: cerebellar granule cell precursor (CL0002362)
Fold Change: 2.59
Marker Score: 1453
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 2.45
Marker Score: 90367
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 2.36
Marker Score: 9112
Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 2.22
Marker Score: 855
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 2.19
Marker Score: 20620
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 2.07
Marker Score: 127192
Cell Name: neuron (CL0000540)
Fold Change: 2.03
Marker Score: 8267
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 1.99
Marker Score: 20566
Cell Name: epithelial cell of alveolus of lung (CL0010003)
Fold Change: 1.99
Marker Score: 892
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.93
Marker Score: 18310
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 1.92
Marker Score: 3644
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 1.91
Marker Score: 2317
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 1.88
Marker Score: 16148
Cell Name: retinal ganglion cell (CL0000740)
Fold Change: 1.77
Marker Score: 2213
Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 1.73
Marker Score: 723
Cell Name: oligodendrocyte precursor cell (CL0002453)
Fold Change: 1.66
Marker Score: 2055
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 1.66
Marker Score: 2557
Cell Name: GABAergic neuron (CL0000617)
Fold Change: 1.58
Marker Score: 6599
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 1.55
Marker Score: 3155
Cell Name: mural cell (CL0008034)
Fold Change: 1.46
Marker Score: 167864
Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.35
Marker Score: 983.5
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 1.26
Marker Score: 856
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 1.23
Marker Score: 737.5
Cell Name: microglial cell (CL0000129)
Fold Change: 1.18
Marker Score: 2144
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 1.17
Marker Score: 487
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 1.15
Marker Score: 4812
Cell Name: ON retinal ganglion cell (CL4023032)
Fold Change: 1.15
Marker Score: 313
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 1.1
Marker Score: 17242
Cell Name: renal beta-intercalated cell (CL0002201)
Fold Change: 1.03
Marker Score: 325
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71814
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48039
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.99
Marker Score: 509
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30407
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.98
Marker Score: 462
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2413
Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.95
Marker Score: 436
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.93
Marker Score: 374
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.93
Marker Score: 5301
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.92
Marker Score: 2742
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.91
Marker Score: 2148
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.91
Marker Score: 326
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 0.9
Marker Score: 1034
Cell Name: ganglion interneuron (CL0000397)
Fold Change: 0.88
Marker Score: 268
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5287
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1265
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.76
Marker Score: 396
Cell Name: brush cell (CL0002204)
Fold Change: 0.76
Marker Score: 695
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.76
Marker Score: 361
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.76
Marker Score: 196
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.75
Marker Score: 236
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 0.75
Marker Score: 16081
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.72
Marker Score: 432
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.72
Marker Score: 462
Cell Name: glutamatergic neuron (CL0000679)
Fold Change: 0.7
Marker Score: 7095
Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.66
Marker Score: 325
Cell Name: interneuron (CL0000099)
Fold Change: 0.65
Marker Score: 296
Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.61
Marker Score: 270
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.59
Marker Score: 470
Cell Name: ependymal cell (CL0000065)
Fold Change: 0.55
Marker Score: 193
Cell Name: taste receptor cell (CL0000209)
Fold Change: 0.54
Marker Score: 467
Cell Name: neural progenitor cell (CL0011020)
Fold Change: 0.53
Marker Score: 2065
Cell Name: meningeal macrophage (CL0000879)
Fold Change: 0.53
Marker Score: 149
Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.49
Marker Score: 16611
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.49
Marker Score: 2924
Cell Name: mature astrocyte (CL0002627)
Fold Change: 0.46
Marker Score: 305
Cell Name: podocyte (CL0000653)
Fold Change: 0.45
Marker Score: 166
Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 0.42
Marker Score: 202
Cell Name: mature microglial cell (CL0002629)
Fold Change: 0.42
Marker Score: 150
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 0.4
Marker Score: 813
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.38
Marker Score: 224
Cell Name: astrocyte (CL0000127)
Fold Change: 0.37
Marker Score: 323
Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.36
Marker Score: 489
Cell Name: oligodendrocyte (CL0000128)
Fold Change: 0.36
Marker Score: 870
Cell Name: renal principal cell (CL0005009)
Fold Change: 0.36
Marker Score: 279
Cell Name: fat cell (CL0000136)
Fold Change: 0.33
Marker Score: 187
Cell Name: melanocyte (CL0000148)
Fold Change: 0.32
Marker Score: 130
Cell Name: starburst amacrine cell (CL0004232)
Fold Change: 0.32
Marker Score: 90
Cell Name: lens fiber cell (CL0011004)
Fold Change: 0.32
Marker Score: 100
Cell Name: hepatocyte (CL0000182)
Fold Change: 0.31
Marker Score: 213
Cell Name: endothelial cell (CL0000115)
Fold Change: 0.3
Marker Score: 273
Cell Name: retinal cone cell (CL0000573)
Fold Change: 0.3
Marker Score: 868
Cell Name: T cell (CL0000084)
Fold Change: 0.3
Marker Score: 514.5
Cell Name: endothelial cell of lymphatic vessel (CL0002138)
Fold Change: 0.29
Marker Score: 181

Hover over a box to see details here...

**Key characteristics:** * NMDA2B is a type of glutamate receptor that is expressed in the central nervous system. * It is a ligand-gated ion channel that is permeable to glutamate ions. * NMDA2B is a subunit of the NMDA receptor complex, which is a heterotetrameric protein complex that is responsible for the NMDA receptor's function. * NMDA2B is a highly conserved protein that is found in mammals, birds, and fish. **Pathways and functions:** * NMDA2B is a key component of the NMDA receptor complex, which is responsible for the NMDA receptor's function. * The NMDA receptor complex is expressed in a variety of brain regions, including the cerebral cortex, hippocampus, and cerebellum. * The NMDA receptor complex is responsible for the NMDA receptor's effects on neuronal excitability, synaptic plasticity, and learning and memory. **Clinical significance:** * Mutations in the GRIN2B gene have been linked to a number of neurodevelopmental disorders, including autism, schizophrenia, and epilepsy. * NMDA receptor agonists are currently being investigated as a treatment for these disorders.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Glutamate receptor ionotropic, NMDA 2B

Genular Protein ID: 1955559397

Symbol: NMDE2_HUMAN

Name: Glutamate receptor ionotropic, NMDA 2B

UniProtKB Accession Codes:

Q13224 Q12919 Q13220 Q13225 Q14CU4 Q9UM56

Database IDs:

Citations:

PubMed ID: 7999784

Title: Human N-methyl-D-aspartate receptor modulatory subunit hNR3: cloning and sequencing of the cDNA and primary structure of the protein.

PubMed ID: 7999784

DOI: 10.1016/0167-4781(94)00189-a

PubMed ID: 8768735

Title: Cloning and functional characterization of human heteromeric N-methyl-D-aspartate receptors.

PubMed ID: 8768735

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 7959773

Title: Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12.

PubMed ID: 7959773

DOI: 10.1006/geno.1994.1366

PubMed ID: 9547169

Title: mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit.

PubMed ID: 9547169

DOI: 10.1016/s0304-3940(97)00853-7

PubMed ID: 10748157

Title: Interaction of the tumor suppressor PTEN/MMAC with a PDZ domain of MAGI3, a novel membrane-associated guanylate kinase.

PubMed ID: 10748157

DOI: 10.1074/jbc.m909741199

PubMed ID: 27458189

Title: Synaptonuclear messenger PRR7 inhibits c-Jun ubiquitination and regulates NMDA-mediated excitotoxicity.

PubMed ID: 27458189

DOI: 10.15252/embj.201593070

PubMed ID: 20890276

Title: Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

PubMed ID: 20890276

DOI: 10.1038/ng.677

PubMed ID: 26919761

Title: Discovery of GluN2A-Selective NMDA Receptor Positive Allosteric Modulators (PAMs): Tuning Deactivation Kinetics via Structure-Based Design.

PubMed ID: 26919761

DOI: 10.1021/acs.jmedchem.5b02010

PubMed ID: 26875626

Title: Positive Allosteric Modulators of GluN2A-Containing NMDARs with Distinct Modes of Action and Impacts on Circuit Function.

PubMed ID: 26875626

DOI: 10.1016/j.neuron.2016.01.016

PubMed ID: 28130356

Title: Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors.

PubMed ID: 28130356

DOI: 10.1523/jneurosci.2068-16.2017

PubMed ID: 28126851

Title: Functional evaluation of a de novo GRIN2A mutation identified in a patient with profound global developmental delay and refractory epilepsy.

PubMed ID: 28126851

DOI: 10.1124/mol.116.106781

PubMed ID: 26912815

Title: A Novel Binding Mode Reveals Two Distinct Classes of NMDA Receptor GluN2B-selective Antagonists.

PubMed ID: 26912815

DOI: 10.1124/mol.115.103036

PubMed ID: 22833210

Title: Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

PubMed ID: 22833210

DOI: 10.1038/tp.2011.52

PubMed ID: 23033978

Title: Diagnostic exome sequencing in persons with severe intellectual disability.

PubMed ID: 23033978

DOI: 10.1056/nejmoa1206524

PubMed ID: 23160955

Title: Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PubMed ID: 23160955

DOI: 10.1126/science.1227764

PubMed ID: 24272827

Title: GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.

PubMed ID: 24272827

DOI: 10.1002/ana.24073

PubMed ID: 24863970

Title: Three rare diseases in one sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity.

PubMed ID: 24863970

DOI: 10.1016/j.ymgme.2014.04.001

PubMed ID: 25356899

Title: De novo mutations in moderate or severe intellectual disability.

PubMed ID: 25356899

DOI: 10.1371/journal.pgen.1004772

PubMed ID: 27839871

Title: Mechanistic insight into NMDA receptor dysregulation by rare variants in the GluN2A and GluN2B agonist binding domains.

PubMed ID: 27839871

DOI: 10.1016/j.ajhg.2016.10.002

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

PubMed ID: 28095420

Title: Molecular mechanism of disease-associated mutations in the pre-M1 helix of NMDA receptors and potential rescue pharmacology.

PubMed ID: 28095420

DOI: 10.1371/journal.pgen.1006536

Sequence Information:

Length: 1484
Mass: 166367
Checksum: 40AEB12BE6E50CEF
Sequence:

MKPRAECCSP KFWLVLAVLA VSGSRARSQK SPPSIGIAVI LVGTSDEVAI KDAHEKDDFH 
HLSVVPRVEL VAMNETDPKS IITRICDLMS DRKIQGVVFA DDTDQEAIAQ ILDFISAQTL 
TPILGIHGGS SMIMADKDES SMFFQFGPSI EQQASVMLNI MEEYDWYIFS IVTTYFPGYQ 
DFVNKIRSTI ENSFVGWELE EVLLLDMSLD DGDSKIQNQL KKLQSPIILL YCTKEEATYI 
FEVANSVGLT GYGYTWIVPS LVAGDTDTVP AEFPTGLISV SYDEWDYGLP ARVRDGIAII 
TTAASDMLSE HSFIPEPKSS CYNTHEKRIY QSNMLNRYLI NVTFEGRNLS FSEDGYQMHP 
KLVIILLNKE RKWERVGKWK DKSLQMKYYV WPRMCPETEE QEDDHLSIVT LEEAPFVIVE 
SVDPLSGTCM RNTVPCQKRI VTENKTDEEP GYIKKCCKGF CIDILKKISK SVKFTYDLYL 
VTNGKHGKKI NGTWNGMIGE VVMKRAYMAV GSLTINEERS EVVDFSVPFI ETGISVMVSR 
SNGTVSPSAF LEPFSADVWV MMFVMLLIVS AVAVFVFEYF SPVGYNRCLA DGREPGGPSF 
TIGKAIWLLW GLVFNNSVPV QNPKGTTSKI MVSVWAFFAV IFLASYTANL AAFMIQEEYV 
DQVSGLSDKK FQRPNDFSPP FRFGTVPNGS TERNIRNNYA EMHAYMGKFN QRGVDDALLS 
LKTGKLDAFI YDAAVLNYMA GRDEGCKLVT IGSGKVFAST GYGIAIQKDS GWKRQVDLAI 
LQLFGDGEME ELEALWLTGI CHNEKNEVMS SQLDIDNMAG VFYMLGAAMA LSLITFICEH 
LFYWQFRHCF MGVCSGKPGM VFSISRGIYS CIHGVAIEER QSVMNSPTAT MNNTHSNILR 
LLRTAKNMAN LSGVNGSPQS ALDFIRRESS VYDISEHRRS FTHSDCKSYN NPPCEENLFS 
DYISEVERTF GNLQLKDSNV YQDHYHHHHR PHSIGSASSI DGLYDCDNPP FTTQSRSISK 
KPLDIGLPSS KHSQLSDLYG KFSFKSDRYS GHDDLIRSDV SDISTHTVTY GNIEGNAAKR 
RKQQYKDSLK KRPASAKSRR EFDEIELAYR RRPPRSPDHK RYFRDKEGLR DFYLDQFRTK 
ENSPHWEHVD LTDIYKERSD DFKRDSVSGG GPCTNRSHIK HGTGDKHGVV SGVPAPWEKN 
LTNVEWEDRS GGNFCRSCPS KLHNYSTTVT GQNSGRQACI RCEACKKAGN LYDISEDNSL 
QELDQPAAPV AVTSNASTTK YPQSPTNSKA QKKNRNKLRR QHSYDTFVDL QKEEAALAPR 
SVSLKDKGRF MDGSPYAHMF EMSAGESTFA NNKSSVPTAG HHHHNNPGGG YMLSKSLYPD 
RVTQNPFIPT FGDDQCLLHG SKSYFFRQPT VAGASKARPD FRALVTNKPV VSALHGAVPA 
RFQKDICIGN QSNPCVPNNK NPRAFNGSSN GHVYEKLSSI ESDV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.

Details for: GRIN2B

Associated with

Cells (max top 100)

Other Information

Human N-methyl-D-aspartate receptor modulatory subunit hNR3: cloning and sequencing of the cDNA and primary structure of the protein. PubMed ID: 7999784

Cloning and functional characterization of human heteromeric N-methyl-D-aspartate receptors. PubMed ID: 8768735

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Mapping of the human NMDAR2B receptor subunit gene (GRIN2B) to chromosome 12p12. PubMed ID: 7959773

mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. PubMed ID: 9547169

Interaction of the tumor suppressor PTEN/MMAC with a PDZ domain of MAGI3, a novel membrane-associated guanylate kinase. PubMed ID: 10748157

Synaptonuclear messenger PRR7 inhibits c-Jun ubiquitination and regulates NMDA-mediated excitotoxicity. PubMed ID: 27458189

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. PubMed ID: 20890276

Discovery of GluN2A-Selective NMDA Receptor Positive Allosteric Modulators (PAMs): Tuning Deactivation Kinetics via Structure-Based Design. PubMed ID: 26919761

Positive Allosteric Modulators of GluN2A-Containing NMDARs with Distinct Modes of Action and Impacts on Circuit Function. PubMed ID: 26875626

Mutation Disrupts Dendritic Morphology and Synaptic Transmission, and Causes ASD-Related Behaviors. PubMed ID: 28130356

Functional evaluation of a de novo GRIN2A mutation identified in a patient with profound global developmental delay and refractory epilepsy. PubMed ID: 28126851

A Novel Binding Mode Reveals Two Distinct Classes of NMDA Receptor GluN2B-selective Antagonists. PubMed ID: 26912815

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia. PubMed ID: 22833210

Diagnostic exome sequencing in persons with severe intellectual disability. PubMed ID: 23033978

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. PubMed ID: 23160955

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. PubMed ID: 24272827

Three rare diseases in one sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. PubMed ID: 24863970

De novo mutations in moderate or severe intellectual disability. PubMed ID: 25356899

Mechanistic insight into NMDA receptor dysregulation by rare variants in the GluN2A and GluN2B agonist binding domains. PubMed ID: 27839871

Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes. PubMed ID: 27864847

Molecular mechanism of disease-associated mutations in the pre-M1 helix of NMDA receptors and potential rescue pharmacology. PubMed ID: 28095420