Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2906
Gene name Gene Name - the full gene name approved by the HGNC.	Glutamate ionotropic receptor NMDA type subunit 2D
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GRIN2D
Synonyms (NCBI Gene) Gene synonyms aliases	DEE46, EB11, EIEE46, GluN2D, NMDAR2D, NR2D
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DEE46
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.33
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs771799381	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs886040861	G>A	Pathogenic	Missense variant, coding sequence variant
rs1569064110	G>A	Pathogenic	Coding sequence variant, missense variant
rs1569065861	G>C	Pathogenic	Coding sequence variant, missense variant
rs1569065866	A>C	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(100)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017316	hsa-miR-335-5p	Microarray	18185580
MIRT570165	hsa-miR-4779	PAR-CLIP	20371350
MIRT570166	hsa-miR-6732-5p	PAR-CLIP	20371350
MIRT490929	hsa-miR-6804-5p	PAR-CLIP	20371350
MIRT490927	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT490926	hsa-miR-6077	PAR-CLIP	20371350
MIRT570164	hsa-miR-765	PAR-CLIP	20371350
MIRT570163	hsa-miR-6752-5p	PAR-CLIP	20371350
MIRT570162	hsa-miR-6842-5p	PAR-CLIP	20371350
MIRT570161	hsa-miR-7110-5p	PAR-CLIP	20371350
MIRT570160	hsa-miR-6747-5p	PAR-CLIP	20371350
MIRT490925	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT490923	hsa-miR-6745	PAR-CLIP	20371350
MIRT490924	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT490931	hsa-miR-4670-5p	PAR-CLIP	23592263
MIRT490929	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT490928	hsa-miR-6124	PAR-CLIP	23592263
MIRT490927	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT490926	hsa-miR-6077	PAR-CLIP	23592263
MIRT490925	hsa-miR-363-5p	PAR-CLIP	23592263
MIRT490923	hsa-miR-6745	PAR-CLIP	23592263
MIRT490924	hsa-miR-3190-3p	PAR-CLIP	23592263
MIRT490924	hsa-miR-3190-3p	PAR-CLIP	26701625
MIRT490925	hsa-miR-363-5p	PAR-CLIP	26701625
MIRT490931	hsa-miR-4670-5p	PAR-CLIP	26701625
MIRT490926	hsa-miR-6077	PAR-CLIP	26701625
MIRT490928	hsa-miR-6124	PAR-CLIP	26701625
MIRT490923	hsa-miR-6745	PAR-CLIP	26701625
MIRT490929	hsa-miR-6804-5p	PAR-CLIP	26701625
MIRT490927	hsa-miR-7-5p	PAR-CLIP	26701625
MIRT570164	hsa-miR-765	PAR-CLIP	26701625
MIRT570165	hsa-miR-4779	PAR-CLIP	20371350
MIRT570166	hsa-miR-6732-5p	PAR-CLIP	20371350
MIRT490929	hsa-miR-6804-5p	PAR-CLIP	20371350
MIRT490927	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT490926	hsa-miR-6077	PAR-CLIP	20371350
MIRT570164	hsa-miR-765	PAR-CLIP	20371350
MIRT570163	hsa-miR-6752-5p	PAR-CLIP	20371350
MIRT570162	hsa-miR-6842-5p	PAR-CLIP	20371350
MIRT570161	hsa-miR-7110-5p	PAR-CLIP	20371350
MIRT570160	hsa-miR-6747-5p	PAR-CLIP	20371350
MIRT490925	hsa-miR-363-5p	PAR-CLIP	20371350
MIRT490923	hsa-miR-6745	PAR-CLIP	20371350
MIRT490924	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT490931	hsa-miR-4670-5p	PAR-CLIP	23592263
MIRT490929	hsa-miR-6804-5p	PAR-CLIP	23592263
MIRT490928	hsa-miR-6124	PAR-CLIP	23592263
MIRT490927	hsa-miR-7-5p	PAR-CLIP	23592263
MIRT490926	hsa-miR-6077	PAR-CLIP	23592263
MIRT490925	hsa-miR-363-5p	PAR-CLIP	23592263
MIRT490923	hsa-miR-6745	PAR-CLIP	23592263
MIRT490924	hsa-miR-3190-3p	PAR-CLIP	23592263
MIRT1034474	hsa-miR-1468	CLIP-seq
MIRT1034475	hsa-miR-1908	CLIP-seq
MIRT1034476	hsa-miR-2110	CLIP-seq
MIRT1034477	hsa-miR-296-5p	CLIP-seq
MIRT1034478	hsa-miR-3144-5p	CLIP-seq
MIRT1034479	hsa-miR-3150a-3p	CLIP-seq
MIRT1034480	hsa-miR-3151	CLIP-seq
MIRT1034481	hsa-miR-3191	CLIP-seq
MIRT1034482	hsa-miR-3937	CLIP-seq
MIRT1034483	hsa-miR-4436b-5p	CLIP-seq
MIRT1034484	hsa-miR-4508	CLIP-seq
MIRT1034485	hsa-miR-4532	CLIP-seq
MIRT1034486	hsa-miR-4648	CLIP-seq
MIRT1034487	hsa-miR-4652-5p	CLIP-seq
MIRT1034488	hsa-miR-615-5p	CLIP-seq
MIRT1034489	hsa-miR-663	CLIP-seq
MIRT1034490	hsa-miR-744	CLIP-seq
MIRT2239273	hsa-miR-141	CLIP-seq
MIRT2239274	hsa-miR-147	CLIP-seq
MIRT1034475	hsa-miR-1908	CLIP-seq
MIRT2239275	hsa-miR-200a	CLIP-seq
MIRT2239276	hsa-miR-3911	CLIP-seq
MIRT1034488	hsa-miR-615-5p	CLIP-seq
MIRT2239277	hsa-miR-644	CLIP-seq
MIRT1034489	hsa-miR-663	CLIP-seq
MIRT2450788	hsa-miR-3922-5p	CLIP-seq
MIRT2450789	hsa-miR-4313	CLIP-seq
MIRT2450790	hsa-miR-4655-3p	CLIP-seq
MIRT2543111	hsa-miR-1270	CLIP-seq
MIRT2543112	hsa-miR-1285	CLIP-seq
MIRT2543113	hsa-miR-2467-3p	CLIP-seq
MIRT2543114	hsa-miR-3135b	CLIP-seq
MIRT2543115	hsa-miR-3187-5p	CLIP-seq
MIRT2543116	hsa-miR-3188	CLIP-seq
MIRT2543117	hsa-miR-3652	CLIP-seq
MIRT2543118	hsa-miR-378g	CLIP-seq
MIRT2450788	hsa-miR-3922-5p	CLIP-seq
MIRT2450789	hsa-miR-4313	CLIP-seq
MIRT2543119	hsa-miR-4430	CLIP-seq
MIRT2543120	hsa-miR-4486	CLIP-seq
MIRT2450790	hsa-miR-4655-3p	CLIP-seq
MIRT2543121	hsa-miR-4683	CLIP-seq
MIRT2543122	hsa-miR-4695-5p	CLIP-seq
MIRT2543123	hsa-miR-612	CLIP-seq
MIRT2543124	hsa-miR-620	CLIP-seq
MIRT2450788	hsa-miR-3922-5p	CLIP-seq
MIRT2450789	hsa-miR-4313	CLIP-seq
MIRT2450790	hsa-miR-4655-3p	CLIP-seq

Show/Hide all(27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001964	Process	Startle response	IEA
GO:0004970	Function	Ionotropic glutamate receptor activity	IDA	27616483
GO:0004972	Function	NMDA glutamate receptor activity	IBA	21873635
GO:0004972	Function	NMDA glutamate receptor activity	IDA	26919761
GO:0004972	Function	NMDA glutamate receptor activity	ISS
GO:0004972	Function	NMDA glutamate receptor activity	TAS	17526495
GO:0005515	Function	Protein binding	IPI	11937501
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IDA	26875626, 26919761
GO:0007420	Process	Brain development	NAS	17526495
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0015276	Function	Ligand-gated ion channel activity	IBA	21873635
GO:0017146	Component	NMDA selective glutamate receptor complex	IBA	21873635
GO:0017146	Component	NMDA selective glutamate receptor complex	IDA	26875626, 26919761
GO:0017146	Component	NMDA selective glutamate receptor complex	TAS	17526495
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0022849	Function	Glutamate-gated calcium ion channel activity	IDA	26875626
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	IEA
GO:0038023	Function	Signaling receptor activity	IBA	21873635
GO:0048167	Process	Regulation of synaptic plasticity	NAS	17526495
GO:0051930	Process	Regulation of sensory perception of pain	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IBA	21873635
GO:0060291	Process	Long-term synaptic potentiation	IBA	21873635
GO:0097553	Process	Calcium ion transmembrane import into cytosol	IDA	26875626
GO:0098839	Component	Postsynaptic density membrane	IBA	21873635
GO:0098976	Process	Excitatory chemical synaptic transmission	NAS	17526495

MIM	HGNC	e!Ensembl
602717	4588	ENSG00000105464

Protein

UniProt ID

O15399

Protein name

Glutamate receptor ionotropic, NMDA 2D (GluN2D) (EB11) (Glutamate [NMDA] receptor subunit epsilon-4) (N-methyl D-aspartate receptor subtype 2D) (NMDAR2D) (NR2D)

Protein function

Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:26875626, PubMed:27616483, PubMed:28126851,

PDB

7YFF , 7YFL , 7YFM , 7YFO , 7YFR , 8E96 , 8Y1V , 9D37 , 9D38 , 9D39 , 9D3A , 9D3B , 9D3C

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01094	ANF_receptor	83 → 396	Receptor family ligand binding region	Family
PF10613	Lig_chan-Glu_bd	473 → 569	Ligated ion channel L-glutamate- and glycine-binding site	Domain
PF00060	Lig_chan	582 → 856	Ligand-gated ion channel	Family

Sequence

MRGAGGPRGPRGPAKMLLLLALACASPFPEEAPGPGGAGGPGGGLGGARPLNVALVFSGP
AYAAEAARLGPAVAAAVRSPGLDVRPVALVLNGSDPRSLVLQLCDLLSGLRVHGVVFEDD
SRAPAVAPILDFLSAQTSLPIVAVHGGAALVLTPKEKGSTFLQLGSSTEQQLQVIFEVLE
EYDWTSFVAVTTRAPGHRAFLSYIEVLTDGSLVGWEHRGALTLDPGAGEAVLSAQLRSVS
AQIRLLFCAREEAEPVFRAAEEAGLTGSGYVWFMVGPQLAGGGGSGAPGEPPLLPGGAPL
PAGLFAVRSAGWRDDLARRVAAGVAVVARGAQALLRDYGFLPELGHDCRAQNRTHRGESL
HRYFMNITWDNRDYSFNEDGFLVNPSLVVISLTRDRTWEVVGSWEQQTLRLKYPLWSRYG
RFLQPVDDTQHLTVATLEERPFVIVEPADPISGTCIRDSVPCRSQLNRTHSPPPDAPRPE
KRCCKGFCIDILKRLAHTIGFSYDLYLVTNGKHGKKIDGVWNGMIGEVFYQRADMAIGSL
TINEERSEIVDFSVPFVETGISVMVARSNGTVSPSAFLEPYSPAVWVMMFVMCLTVVAVT
VFIFEYLSPVGYNRSLATGKRPGGSTFTIGKSIWLLWALVFNNSVPVENPRGTTSKIMVL
VWAFFAVIFLASYTANLAAFMIQEEYVDTVSGLSDRKFQRPQEQYPPLKFGTVPNGSTEK
NIRSNYPDMHSYMVRYNQPRVEEALTQLKAGKLDAFIYDAAVLNYMARKDEGCKLVTIGS
GKVFATTGYGIALHKGSRWKRPIDLALLQFLGDDEIEMLERLWLSGICHNDKIEVMSSKL
DIDNMAGVFYMLLVAMGLSLLVFAWEHLVYWRLRHCLGPTHRMDFLLAFSRGMYSCCSAE
AAPPPAKPPPPPQPLPSPAYPAPRPAPGPAPFVPRERASVDRWRRTKGAGPPGGAGLADG
FHRYYGPIEPQGLGLGLGEARAAPRGAAGRPLSPPAAQPPQKPPPSYFAIVRDKEPAEPP
AGAFPGFPSPPAPPAAAATAVGPPLCRLAFEDESPPAPARWPRSDPESQPLLGPGAGGAG
GTGGAGGGAPAAPPPCRAAPPPCPYLDLEPSPSDSEDSESLGGASLGGLEPWWFADFPYP
YAERLGPPPGRYWSVDKLGGWRAGSWDYLPPRSGPAAWHCRHCASLELLPPPRHLSCSHD
GLDGGWWAPPPPPWAAGPLPRRRARCGCPRSHPHRPRASHRTPAAAAPHHHRHRRAAGGW
DLPPPAPTSRSLEDLSSCPRAAPARRLTGPSRHARRCPHAAHWGPPLPTASHRRHRGGDL
GTRRGSAHFSSLESEV

Sequence length

1336

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment Long-term potentiation Glutamatergic synapse Alzheimer disease Amyotrophic lateral sclerosis Spinocerebellar ataxia Prion disease Pathways of neurodegeneration - multiple diseases Cocaine addiction Amphetamine addiction Nicotine addiction Alcoholism		Unblocking of NMDA receptors, glutamate binding and activation RAF/MAP kinase cascade Synaptic adhesion-like molecules Assembly and cell surface presentation of NMDA receptors

Show/Hide Causal Diseases (11)

Disease term	Disease name	dbSNP ID	References
Causal
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Developmental regression	Developmental regression	rs1224421127
Epileptic encephalopathy	Encephalopathies, Epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)	27616483, 30280376
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	30280376
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	19856012

Show/Hide Unknown Diseases (3)

Disease term	Disease name	References	Source
Unknown
Endometriosis	Endometriosis	28881265	ClinVar, GWAS
Ptosis	Blepharoptosis, Ptosis		ClinVar
Neurodevelopmental Disorders	complex neurodevelopmental disorder		GenCC

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text Mining
Alzheimer Disease	Associate	37794492
Brain Diseases	Associate	27616483, 33397303, 33482465
Breast Neoplasms	Associate	22302350
Coronary Artery Disease	Associate	40147550
Coronary Disease	Associate	40147550
Death Sudden Cardiac	Associate	33397303
Depressive Disorder	Stimulate	26013316
Epilepsy	Associate	33397303, 37095367
Epilepsy Tonic Clonic	Stimulate	26013316
Epileptic Encephalopathy Early Infantile 3	Associate	33397303, 33482465
Keratitis Dendritic	Associate	27616483
Leukemia Lymphoma Adult T Cell	Associate	34446027
Mental Disorders	Associate	33208725
Neoplasms	Associate	20061814, 29672706
Nerve Degeneration	Associate	27616483
Paraparesis Tropical Spastic	Associate	34446027
Schizophrenia	Associate	29317596, 33208725, 8613785
Stomach Neoplasms	Associate	38438090
Triple Negative Breast Neoplasms	Associate	35295962

GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D)