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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Glutamate ionotropic receptor NMDA type subunit 2B
Protein classi
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes FDA approved drug targets Human disease related genes RAS pathway related proteins
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
12
Cytoband
p13.1
Chromosome location (bp)
13437942 - 13982002
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) 1,2,3,4. Sensitivity to glutamate and channel kinetics depend on the subunit composition 5,6. In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death. Contributes to neural pattern formation in the developing brain. Plays a role in long-term depression (LTD) of hippocampus membrane currents and in synaptic plasticity (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Ion channel, Ligand-gated ion channel, Receptor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Ion transport, Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Magnesium, Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM RAS pathway related proteins Disease related genes FDA approved drug targets Small molecule drugs Human disease related genes Nervous system diseases Epilepsy Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0001540[amyloid-beta binding] GO:0004970[ionotropic glutamate receptor activity] GO:0004972[NMDA glutamate receptor activity] GO:0005216[ion channel activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005764[lysosome] GO:0005768[endosome] GO:0005770[late endosome] GO:0005789[endoplasmic reticulum membrane] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006811[ion transport] GO:0007215[glutamate receptor signaling pathway] GO:0007268[chemical synaptic transmission] GO:0007420[brain development] GO:0007611[learning or memory] GO:0008270[zinc ion binding] GO:0009986[cell surface] GO:0014069[postsynaptic density] GO:0015276[ligand-gated ion channel activity] GO:0016020[membrane] GO:0016594[glycine binding] GO:0016595[glutamate binding] GO:0017146[NMDA selective glutamate receptor complex] GO:0019722[calcium-mediated signaling] GO:0022849[glutamate-gated calcium ion channel activity] GO:0034220[ion transmembrane transport] GO:0035235[ionotropic glutamate receptor signaling pathway] GO:0038023[signaling receptor activity] GO:0043005[neuron projection] GO:0045202[synapse] GO:0045211[postsynaptic membrane] GO:0045471[response to ethanol] GO:0046872[metal ion binding] GO:0048167[regulation of synaptic plasticity] GO:0048168[regulation of neuronal synaptic plasticity] GO:0051290[protein heterotetramerization] GO:0051968[positive regulation of synaptic transmission, glutamatergic] GO:0060079[excitatory postsynaptic potential] GO:0060291[long-term synaptic potentiation] GO:0097060[synaptic membrane] GO:0097553[calcium ion transmembrane import into cytosol] GO:0098655[cation transmembrane transport] GO:0098794[postsynapse] GO:0098839[postsynaptic density membrane] GO:0098976[excitatory chemical synaptic transmission] GO:0099094[ligand-gated cation channel activity] GO:0099505[regulation of presynaptic membrane potential] GO:0099507[ligand-gated ion channel activity involved in regulation of presynaptic membrane potential] GO:1901216[positive regulation of neuron death] GO:1902951[negative regulation of dendritic spine maintenance] GO:1904062[regulation of cation transmembrane transport] GO:2000463[positive regulation of excitatory postsynaptic potential] GO:2001056[positive regulation of cysteine-type endopeptidase activity]
Secreted proteins predicted by MDSEC Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins RAS pathway related proteins Human disease related genes Nervous system diseases Epilepsy Other diseases Mental and behavioural disorders
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Nervous system diseases Epilepsy Other diseases Mental and behavioural disorders
The Human Protein Atlas project is funded
