• Gene id: 2904

Gene Summary

• Gene Symbol: GRIN2B   Gene   UCSC   Ensembl
• Aliases: EIEE27, GluN2B, MRD6, NMDAR2B, NR2B, NR3, hNR3
• Gene name: glutamate ionotropic receptor NMDA type subunit 2B
• Alternate names: glutamate receptor ionotropic, NMDA 2B, N-methyl D-aspartate receptor subtype 2B, N-methyl-D-aspartate receptor subunit 3, glutamate [NMDA] receptor subunit epsilon-2, glutamate receptor subunit epsilon-2, glutamate receptor, ionotropic, N-methyl D-aspartate 2,
• Gene location: 12p13.1 (13982011: 13537336)     Exons: 16     NC_000012.12
• Gene summary(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
• OMIM: 138252

Protein Summary

• Protein general information: Q13224  
  • Name: Glutamate receptor ionotropic, NMDA 2B (GluN2B) (Glutamate [NMDA] receptor subunit epsilon 2) (N methyl D aspartate receptor subtype 2B) (NMDAR2B) (NR2B) (N methyl D aspartate receptor subunit 3) (NR3) (hNR3)
  • Length: 1484  
  • Mass: 166367
  • Tissue specificity: Primarily found in the fronto-parieto-temporal cortex and hippocampus pyramidal cells, lower expression in the basal ganglia. {ECO
• Sequence:

  MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTSDEVAIKDAHEKDDFHHLSVVPRVELVAMNE
  TDPKSIITRICDLMSDRKIQGVVFADDTDQEAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSI
  EQQASVMLNIMEEYDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKKLQS
  PIILLYCTKEEATYIFEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVSYDEWDYGLPARVRDGIAII
  TTAASDMLSEHSFIPEPKSSCYNTHEKRIYQSNMLNRYLINVTFEGRNLSFSEDGYQMHPKLVIILLNKERKWER
  VGKWKDKSLQMKYYVWPRMCPETEEQEDDHLSIVTLEEAPFVIVESVDPLSGTCMRNTVPCQKRIVTENKTDEEP
  GYIKKCCKGFCIDILKKISKSVKFTYDLYLVTNGKHGKKINGTWNGMIGEVVMKRAYMAVGSLTINEERSEVVDF
  SVPFIETGISVMVSRSNGTVSPSAFLEPFSADVWVMMFVMLLIVSAVAVFVFEYFSPVGYNRCLADGREPGGPSF
  TIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEYVDQVSGLSDKKFQRPN
  DFSPPFRFGTVPNGSTERNIRNNYAEMHAYMGKFNQRGVDDALLSLKTGKLDAFIYDAAVLNYMAGRDEGCKLVT
  IGSGKVFASTGYGIAIQKDSGWKRQVDLAILQLFGDGEMEELEALWLTGICHNEKNEVMSSQLDIDNMAGVFYML
  GAAMALSLITFICEHLFYWQFRHCFMGVCSGKPGMVFSISRGIYSCIHGVAIEERQSVMNSPTATMNNTHSNILR
  LLRTAKNMANLSGVNGSPQSALDFIRRESSVYDISEHRRSFTHSDCKSYNNPPCEENLFSDYISEVERTFGNLQL
  KDSNVYQDHYHHHHRPHSIGSASSIDGLYDCDNPPFTTQSRSISKKPLDIGLPSSKHSQLSDLYGKFSFKSDRYS
  GHDDLIRSDVSDISTHTVTYGNIEGNAAKRRKQQYKDSLKKRPASAKSRREFDEIELAYRRRPPRSPDHKRYFRD
  KEGLRDFYLDQFRTKENSPHWEHVDLTDIYKERSDDFKRDSVSGGGPCTNRSHIKHGTGDKHGVVSGVPAPWEKN
  LTNVEWEDRSGGNFCRSCPSKLHNYSTTVTGQNSGRQACIRCEACKKAGNLYDISEDNSLQELDQPAAPVAVTSN
  ASTTKYPQSPTNSKAQKKNRNKLRRQHSYDTFVDLQKEEAALAPRSVSLKDKGRFMDGSPYAHMFEMSAGESTFA
  NNKSSVPTAGHHHHNNPGGGYMLSKSLYPDRVTQNPFIPTFGDDQCLLHGSKSYFFRQPTVAGASKARPDFRALV
  TNKPVVSALHGAVPARFQKDICIGNQSNPCVPNNKNPRAFNGSSNGHVYEKLSSIESDV

• Structural information:
  • Interpro: IPR001828  IPR019594  IPR001508  IPR001320  IPR018884   IPR028082  
  • PDB: 1S11 1S2S 2IPV 5EWJ 5EWL 5EWM
  • PDBsum: 1S11 1S2S 2IPV 5EWJ 5EWL 5EWM
  • DIP: 41002
  • STRING: ENSP00000477455
• Other Databases: GeneCards:  GRIN2B  Malacards:  GRIN2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001540	amyloid-beta binding	NAS	molecular function
GO:0004972	NMDA glutamate receptor activity	TAS	molecular function
GO:0007611	learning or memory	ISS	biological process
GO:1902951	negative regulation of dendritic spine maintenance	ISS	biological process
GO:1901216	positive regulation of neuron death	ISS	biological process
GO:0098976	excitatory chemical synaptic transmission	NAS	biological process
GO:0007275	multicellular organism development	TAS	biological process
GO:0007420	brain development	NAS	biological process
GO:0017146	NMDA selective glutamate receptor complex	TAS	cellular component
GO:2001056	positive regulation of cysteine-type endopeptidase activity	ISS	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0009986	cell surface	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005886	plasma membrane	ISS	cellular component
GO:0048167	regulation of synaptic plasticity	NAS	biological process
GO:0014069	postsynaptic density	ISS	cellular component
GO:0045211	postsynaptic membrane	TAS	cellular component
GO:0097060	synaptic membrane	ISS	cellular component
GO:0004972	NMDA glutamate receptor activity	IBA	molecular function
GO:0015276	ligand-gated ion channel activity	IBA	molecular function
GO:0017146	NMDA selective glutamate receptor complex	IBA	cellular component
GO:0035249	synaptic transmission, glutamatergic	IBA	biological process
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0060291	long-term synaptic potentiation	IBA	biological process
GO:0098839	postsynaptic density membrane	IBA	cellular component
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0008066	glutamate receptor activity	IBA	molecular function
GO:0045211	postsynaptic membrane	IBA	cellular component
GO:0050804	modulation of chemical synaptic transmission	IBA	biological process
GO:0060079	excitatory postsynaptic potential	IBA	biological process
GO:0017146	NMDA selective glutamate receptor complex	IDA	cellular component
GO:0017146	NMDA selective glutamate receptor complex	IDA	cellular component
GO:0004972	NMDA glutamate receptor activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0022849	glutamate-gated calcium ion channel activity	IDA	molecular function
GO:0097553	calcium ion transmembrane import into cytosol	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0008270	zinc ion binding	ISS	molecular function
GO:0016595	glutamate binding	ISS	molecular function
GO:0004972	NMDA glutamate receptor activity	ISS	molecular function
GO:0004972	NMDA glutamate receptor activity	ISS	molecular function
GO:0005764	lysosome	ISS	cellular component
GO:0014069	postsynaptic density	ISS	cellular component
GO:0022849	glutamate-gated calcium ion channel activity	IMP	molecular function
GO:0097553	calcium ion transmembrane import into cytosol	IMP	biological process
GO:0051290	protein heterotetramerization	ISS	biological process
GO:0005770	late endosome	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004970	ionotropic glutamate receptor activity	IEA	molecular function
GO:0015276	ligand-gated ion channel activity	IEA	molecular function
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004972	NMDA glutamate receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007215	glutamate receptor signaling pathway	TAS	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0007611	learning or memory	TAS	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:2000310	regulation of NMDA receptor activity	TAS	biological process
GO:0048013	ephrin receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043005	neuron projection	ISS	cellular component
GO:0009986	cell surface	ISS	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0045471	response to ethanol	IDA	biological process
GO:0016594	glycine binding	IDA	molecular function
GO:0017146	NMDA selective glutamate receptor complex	IDA	cellular component
GO:0017146	NMDA selective glutamate receptor complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04080	Neuroactive ligand-receptor interaction
hsa05016	Huntington disease
hsa04014	Ras signaling pathway
hsa04015	Rap1 signaling pathway
hsa04024	cAMP signaling pathway
hsa05034	Alcoholism
hsa05017	Spinocerebellar ataxia
hsa04728	Dopaminergic synapse
hsa04724	Glutamatergic synapse
hsa05322	Systemic lupus erythematosus
hsa04713	Circadian entrainment
hsa04720	Long-term potentiation
hsa05031	Amphetamine addiction
hsa05030	Cocaine addiction
hsa05014	Amyotrophic lateral sclerosis
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
Early infantile epileptic encephalopathy	KEGG:H00606
Autosomal dominant mental retardation	KEGG:H00773
Early infantile epileptic encephalopathy	KEGG:H00606
Autosomal dominant mental retardation	KEGG:H00773
Alzheimer's disease	PMID:24156266
Alzheimer's disease	PMID:24292895
Alzheimer's disease	PMID:18983893
Huntington's disease	PMID:17569088
Huntington's disease	PMID:15742215
Bipolar disorder	PMID:16549338
Temporal lobe epilepsy	PMID:9761317
Schizophrenia	PMID:16549338
Vascular dementia	PMID:25261450
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray