• Gene id: 2906

Gene Summary

• Gene Symbol: GRIN2D   Gene   UCSC   Ensembl
• Aliases: EB11, EIEE46, GluN2D, NMDAR2D, NR2D
• Gene name: glutamate ionotropic receptor NMDA type subunit 2D
• Alternate names: glutamate receptor ionotropic, NMDA 2D, N-methyl D-aspartate receptor subtype 2D, N-methyl-d-aspartate receptor subunit 2D, estrogen receptor binding CpG island, glutamate [NMDA] receptor subunit epsilon-4, glutamate receptor, ionotropic, N-methyl D-aspartate ,
• Gene location: 19q13.33 (48394874: 48444936)     Exons: 13     NC_000019.10
• Gene summary(Entrez): N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate receptors. NMDA channel has been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certai
• OMIM: 601679

Protein Summary

• Protein general information: O15399  
  • Name: Glutamate receptor ionotropic, NMDA 2D (GluN2D) (EB11) (Glutamate [NMDA] receptor subunit epsilon 4) (N methyl D aspartate receptor subtype 2D) (NMDAR2D) (NR2D)
  • Length: 1336  
  • Mass: 143752
• Sequence:

  MRGAGGPRGPRGPAKMLLLLALACASPFPEEAPGPGGAGGPGGGLGGARPLNVALVFSGPAYAAEAARLGPAVAA
  AVRSPGLDVRPVALVLNGSDPRSLVLQLCDLLSGLRVHGVVFEDDSRAPAVAPILDFLSAQTSLPIVAVHGGAAL
  VLTPKEKGSTFLQLGSSTEQQLQVIFEVLEEYDWTSFVAVTTRAPGHRAFLSYIEVLTDGSLVGWEHRGALTLDP
  GAGEAVLSAQLRSVSAQIRLLFCAREEAEPVFRAAEEAGLTGSGYVWFMVGPQLAGGGGSGAPGEPPLLPGGAPL
  PAGLFAVRSAGWRDDLARRVAAGVAVVARGAQALLRDYGFLPELGHDCRAQNRTHRGESLHRYFMNITWDNRDYS
  FNEDGFLVNPSLVVISLTRDRTWEVVGSWEQQTLRLKYPLWSRYGRFLQPVDDTQHLTVATLEERPFVIVEPADP
  ISGTCIRDSVPCRSQLNRTHSPPPDAPRPEKRCCKGFCIDILKRLAHTIGFSYDLYLVTNGKHGKKIDGVWNGMI
  GEVFYQRADMAIGSLTINEERSEIVDFSVPFVETGISVMVARSNGTVSPSAFLEPYSPAVWVMMFVMCLTVVAVT
  VFIFEYLSPVGYNRSLATGKRPGGSTFTIGKSIWLLWALVFNNSVPVENPRGTTSKIMVLVWAFFAVIFLASYTA
  NLAAFMIQEEYVDTVSGLSDRKFQRPQEQYPPLKFGTVPNGSTEKNIRSNYPDMHSYMVRYNQPRVEEALTQLKA
  GKLDAFIYDAAVLNYMARKDEGCKLVTIGSGKVFATTGYGIALHKGSRWKRPIDLALLQFLGDDEIEMLERLWLS
  GICHNDKIEVMSSKLDIDNMAGVFYMLLVAMGLSLLVFAWEHLVYWRLRHCLGPTHRMDFLLAFSRGMYSCCSAE
  AAPPPAKPPPPPQPLPSPAYPAPRPAPGPAPFVPRERASVDRWRRTKGAGPPGGAGLADGFHRYYGPIEPQGLGL
  GLGEARAAPRGAAGRPLSPPAAQPPQKPPPSYFAIVRDKEPAEPPAGAFPGFPSPPAPPAAAATAVGPPLCRLAF
  EDESPPAPARWPRSDPESQPLLGPGAGGAGGTGGAGGGAPAAPPPCRAAPPPCPYLDLEPSPSDSEDSESLGGAS
  LGGLEPWWFADFPYPYAERLGPPPGRYWSVDKLGGWRAGSWDYLPPRSGPAAWHCRHCASLELLPPPRHLSCSHD
  GLDGGWWAPPPPPWAAGPLPRRRARCGCPRSHPHRPRASHRTPAAAAPHHHRHRRAAGGWDLPPPAPTSRSLEDL
  SSCPRAAPARRLTGPSRHARRCPHAAHWGPPLPTASHRRHRGGDLGTRRGSAHFSSLESEV

• Structural information:
  • Interpro: IPR001828  IPR019594  IPR001508  IPR001320  IPR028082  
  • STRING: ENSP00000263269
• Other Databases: GeneCards:  GRIN2D  Malacards:  GRIN2D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004972	NMDA glutamate receptor activity	TAS	molecular function
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:0048167	regulation of synaptic plasticity	NAS	biological process
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IBA	molecular function
GO:0098839	postsynaptic density membrane	IBA	cellular component
GO:0060291	long-term synaptic potentiation	IBA	biological process
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0035249	synaptic transmission, glutamatergic	IBA	biological process
GO:0017146	NMDA selective glutamate receptor complex	IBA	cellular component
GO:0015276	ligand-gated ion channel activity	IBA	molecular function
GO:0004972	NMDA glutamate receptor activity	IBA	molecular function
GO:0060079	excitatory postsynaptic potential	IBA	biological process
GO:0050804	modulation of chemical synaptic transmission	IBA	biological process
GO:0045211	postsynaptic membrane	IBA	cellular component
GO:0008066	glutamate receptor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0004970	ionotropic glutamate receptor activity	IDA	molecular function
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: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:0004972	NMDA glutamate receptor activity	ISS	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:0016021	integral component of membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001964	startle response	IEA	biological process
GO:0004972	NMDA glutamate receptor activity	IEA	molecular function
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0051930	regulation of sensory perception of pain	IEA	biological process
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:0019722	calcium-mediated signaling	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04080	Neuroactive ligand-receptor interaction
hsa04024	cAMP signaling pathway
hsa04020	Calcium signaling pathway
hsa05034	Alcoholism
hsa05017	Spinocerebellar ataxia
hsa04724	Glutamatergic synapse
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
Early infantile epileptic encephalopathy	KEGG:H00606
Schizophrenia	PMID:19856012
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq