• Gene id: 2903

Gene Summary

• Gene Symbol: GRIN2A   Gene   UCSC   Ensembl
• Aliases: EPND, FESD, GluN2A, LKS, NMDAR2A, NR2A
• Gene name: glutamate ionotropic receptor NMDA type subunit 2A
• Alternate names: glutamate receptor ionotropic, NMDA 2A, N-methyl D-aspartate receptor subtype 2A, N-methyl-D-aspartate receptor channel, subunit epsilon-1, N-methyl-D-aspartate receptor subunit 2A, glutamate receptor, ionotropic, N-methyl D-aspartate 2A,
• Gene location: 16p13.2 (10182927: 9753403)     Exons: 16     NC_000016.10
• Gene summary(Entrez): This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, a
• OMIM: 608679

Protein Summary

• Protein general information: Q12879  
  • Name: Glutamate receptor ionotropic, NMDA 2A (GluN2A) (Glutamate [NMDA] receptor subunit epsilon 1) (N methyl D aspartate receptor subtype 2A) (NMDAR2A) (NR2A) (hNR2A)
  • Length: 1464  
  • Mass: 165283
• Sequence:

  MGRVGYWTLLVLPALLVWRGPAPSAAAEKGPPALNIAVMLGHSHDVTERELRTLWGPEQAAGLPLDVNVVALLMN
  RTDPKSLITHVCDLMSGARIHGLVFGDDTDQEAVAQMLDFISSHTFVPILGIHGGASMIMADKDPTSTFFQFGAS
  IQQQATVMLKIMQDYDWHVFSLVTTIFPGYREFISFVKTTVDNSFVGWDMQNVITLDTSFEDAKTQVQLKKIHSS
  VILLYCSKDEAVLILSEARSLGLTGYDFFWIVPSLVSGNTELIPKEFPSGLISVSYDDWDYSLEARVRDGIGILT
  TAASSMLEKFSYIPEAKASCYGQMERPEVPMHTLHPFMVNVTWDGKDLSFTEEGYQVHPRLVVIVLNKDREWEKV
  GKWENHTLSLRHAVWPRYKSFSDCEPDDNHLSIVTLEEAPFVIVEDIDPLTETCVRNTVPCRKFVKINNSTNEGM
  NVKKCCKGFCIDILKKLSRTVKFTYDLYLVTNGKHGKKVNNVWNGMIGEVVYQRAVMAVGSLTINEERSEVVDFS
  VPFVETGISVMVSRSNGTVSPSAFLEPFSASVWVMMFVMLLIVSAIAVFVFEYFSPVGYNRNLAKGKAPHGPSFT
  IGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEFVDQVTGLSDKKFQRPHD
  YSPPFRFGTVPNGSTERNIRNNYPYMHQYMTKFNQKGVEDALVSLKTGKLDAFIYDAAVLNYKAGRDEGCKLVTI
  GSGYIFATTGYGIALQKGSPWKRQIDLALLQFVGDGEMEELETLWLTGICHNEKNEVMSSQLDIDNMAGVFYMLA
  AAMALSLITFIWEHLFYWKLRFCFTGVCSDRPGLLFSISRGIYSCIHGVHIEEKKKSPDFNLTGSQSNMLKLLRS
  AKNISSMSNMNSSRMDSPKRAADFIQRGSLIMDMVSDKGNLMYSDNRSFQGKESIFGDNMNELQTFVANRQKDNL
  NNYVFQGQHPLTLNESNPNTVEVAVSTESKANSRPRQLWKKSVDSIRQDSLSQNPVSQRDEATAENRTHSLKSPR
  YLPEEMAHSDISETSNRATCHREPDNSKNHKTKDNFKRSVASKYPKDCSEVERTYLKTKSSSPRDKIYTIDGEKE
  PGFHLDPPQFVENVTLPENVDFPDPYQDPSENFRKGDSTLPMNRNPLHNEEGLSNNDQYKLYSKHFTLKDKGSPH
  SETSERYRQNSTHCRSCLSNMPTYSGHFTMRSPFKCDACLRMGNLYDIDEDQMLQETGNPATGEQVYQQDWAQNN
  ALQLQKNKLRISRQHSYDNIVDKPRELDLSRPSRSISLKDRERLLEGNFYGSLFSVPSSKLSGKKSSLFPQGLED
  SKRSKSLLPDHTSDNPFLHSHRDDQRLVIGRCPSDPYKHSLPSQAVNDSYLRSSLRSTASYCSRDSRGHNDVYIS
  EHVMPYAANKNNMYSTPRVLNSCSNRRVYKKMPSIESDV

• Structural information:
  • Interpro: IPR001828  IPR019594  IPR001508  IPR001320  IPR018884   IPR028082  
  • PDB: 3NFL 5H8F 5H8H 5H8N 5H8Q 5I2K 5I2N 5KCJ 5KDT 5TP9 5TPA 6IRA 6IRF 6IRG 6IRH
  • PDBsum: 3NFL 5H8F 5H8H 5H8N 5H8Q 5I2K 5I2N 5KCJ 5KDT 5TP9 5TPA 6IRA 6IRF 6IRG 6IRH
  • DIP: 40798
  • STRING: ENSP00000379818
• Other Databases: GeneCards:  GRIN2A  Malacards:  GRIN2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001540	amyloid-beta binding	TAS	molecular function
GO:0004972	NMDA glutamate receptor activity	TAS	molecular function
GO:1904646	cellular response to amyloid-beta	IGI	NOT|biological process
GO:0098976	excitatory chemical synaptic transmission	NAS	biological process
GO:0007420	brain development	NAS	biological process
GO:0017146	NMDA selective glutamate receptor complex	TAS	cellular component
GO:0009986	cell surface	ISS	cellular component
GO:0048167	regulation of synaptic plasticity	NAS	biological process
GO:0014069	postsynaptic density	ISS	cellular component
GO:0097060	synaptic membrane	ISS	cellular component
GO:0097202	activation of cysteine-type endopeptidase activity	TAS	biological process
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: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:0017146	NMDA selective glutamate receptor complex	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0097553	calcium ion transmembrane import into cytosol	IDA	biological process
GO:0022849	glutamate-gated calcium ion channel activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0008270	zinc ion binding	ISS	molecular function
GO:0004972	NMDA glutamate receptor activity	ISS	molecular function
GO:0014069	postsynaptic density	ISS	cellular component
GO:0097553	calcium ion transmembrane import into cytosol	IMP	biological process
GO:0022849	glutamate-gated calcium ion channel activity	IMP	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:0046872	metal ion binding	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma 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: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: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:1903539	protein localization to postsynaptic membrane	IEA	biological process
GO:0099061	integral component of postsynaptic density membrane	IEA	cellular component
GO:0097060	synaptic membrane	IEA	cellular component
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:0050804	modulation of chemical synaptic transmission	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0040011	locomotion	IEA	biological process
GO:0030431	sleep	IEA	biological process
GO:0019233	sensory perception of pain	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0008542	visual learning	IEA	biological process
GO:0007612	learning	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098839	postsynaptic density membrane	IEA	cellular component
GO:0060291	long-term synaptic potentiation	IEA	biological process
GO:0060078	regulation of postsynaptic membrane potential	IEA	biological process
GO:0048167	regulation of synaptic plasticity	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0042428	serotonin metabolic process	IEA	biological process
GO:0042417	dopamine metabolic process	IEA	biological process
GO:0042177	negative regulation of protein catabolic process	IEA	biological process
GO:0033058	directional locomotion	IEA	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0017146	NMDA selective glutamate receptor complex	IEA	cellular component
GO:0009611	response to wounding	IEA	biological process
GO:0008021	synaptic vesicle	IEA	cellular component
GO:0007613	memory	IEA	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0006816	calcium ion transport	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005262	calcium channel activity	IEA	molecular function
GO:0005261	cation channel activity	IEA	molecular function
GO:0004972	NMDA glutamate receptor activity	IEA	molecular function
GO:0001975	response to amphetamine	IEA	biological process
GO:0001964	startle response	IEA	biological process
GO:0009986	cell surface	ISS	cellular component
GO:0030659	cytoplasmic vesicle membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045202	synapse	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:0019722	calcium-mediated signaling	IEA	biological process
GO:0019722	calcium-mediated signaling	IEA	biological process
GO:0045471	response to ethanol	IDA	biological process
GO:0017146	NMDA selective glutamate receptor complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04080	Neuroactive ligand-receptor interaction
hsa04014	Ras signaling pathway
hsa04015	Rap1 signaling pathway
hsa04024	cAMP signaling pathway
hsa04020	Calcium 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
Rolandic epilepsy, mental retardation, and speech dyspraxia	KEGG:H01827
Landau-Kleffner syndrome	KEGG:H01514
Rolandic epilepsy, mental retardation, and speech dyspraxia	KEGG:H01827
Landau-Kleffner syndrome	KEGG:H01514
Alzheimer's disease	PMID:24156266
Huntington's disease	PMID:15742215
Huntington's disease	PMID:17569088
Bipolar disorder	PMID:12809987
Schizophrenia	PMID:18534564
Vascular dementia	PMID:25261450
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq