Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2903
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamate ionotropic receptor NMDA type subunit 2A
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GRIN2A
Synonyms (NCBI Gene) Gene synonyms aliases
EPND, FESD, GluN2A, LKS, NMDAR2A, NR2A
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p13.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs75761674 A>C,T Uncertain-significance, conflicting-interpretations-of-pathogenicity Stop gained, missense variant, coding sequence variant
rs77029288 T>C Benign, conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant, 3 prime UTR variant
rs77705198 G>A Benign, conflicting-interpretations-of-pathogenicity, likely-benign Synonymous variant, coding sequence variant
rs113847665 C>A,G,T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs141912603 G>A Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004578 hsa-miR-125b-5p Luciferase reporter assay, qRT-PCR 20159450
MIRT715858 hsa-miR-148a-5p HITS-CLIP 19536157
MIRT715856 hsa-miR-8485 HITS-CLIP 19536157
MIRT715857 hsa-miR-329-3p HITS-CLIP 19536157
MIRT715855 hsa-miR-362-3p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding TAS 26719327
GO:0001964 Process Startle response IEA
GO:0001975 Process Response to amphetamine IEA
GO:0004972 Function NMDA glutamate receptor activity IBA
GO:0004972 Function NMDA glutamate receptor activity IDA 20890276, 23933819, 23933820, 24504326, 26875626, 26919761, 27288002, 28095420, 28126851, 28242877, 29644724, 36117210, 38307912, 38538865
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138253 4585 ENSG00000183454
Protein
UniProt ID Q12879
Protein name Glutamate receptor ionotropic, NMDA 2A (GluN2A) (Glutamate [NMDA] receptor subunit epsilon-1) (N-methyl D-aspartate receptor subtype 2A) (NMDAR2A) (NR2A) (hNR2A)
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:20890276, PubMed:23933818, PubMed:23933819,
PDB 3NFL , 5H8F , 5H8H , 5H8N , 5H8Q , 5I2K , 5I2N , 5KCJ , 5KDT , 5TP9 , 5TPA , 6IRA , 6IRF , 6IRG , 6IRH , 7EOQ , 7EOR , 7EOS , 7EOT , 7EOU , 7EU7 , 8E99 , 8JIZ , 8JJ0 , 8JJ1 , 8JJ2 , 8VUH , 8VUJ , 8VUL , 8VUN , 8VUQ , 8VUR , 8VUT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01094 ANF_receptor 69 327 Receptor family ligand binding region Family
PF10613 Lig_chan-Glu_bd 404 541 Ligated ion channel L-glutamate- and glycine-binding site Domain
PF00060 Lig_chan 554 828 Ligand-gated ion channel Family
PF10565 NMDAR2_C 839 1464 N-methyl D-aspartate receptor 2B3 C-terminus Family
Sequence
MGRVGYWTLLVLPALLVWRGPAPSAAAEKGPPALNIAVMLGHSHDVTERELRTLWGPEQA
AGLPLDVNVVALLMNRTDPKSLITHVCDLMSGARIHGLVFGDDTDQEAVAQMLDFISSHT
FVPILGIHGGASMIMADKDPTSTFFQFGASIQQQATVMLKIMQDYDWHVFSLVTTIFPGY
REFISFVKTTVDNSFVGWDMQNVITLDTSFEDAKTQVQLKKIHSSVILLYCSKDEAVLIL
SEARSLGLTGYDFFWIVPSLVSGNTELIPKEFPSGLISVSYDDWDYSLEARVRDGIGILT
TAASSMLEKFSYIPEAKASCYGQMERP
EVPMHTLHPFMVNVTWDGKDLSFTEEGYQVHPR
LVVIVLNKDREWEKVGKWENHTLSLRHAVWPRYKSFSDCEPDDNHLSIVTLEEAPFVIVE
DIDPLTETCVRNTVPCRKFVKINNSTNEGMNVKKCCKGFCIDILKKLSRTVKFTYDLYLV
TNGKHGKKVNNVWNGMIGEVVYQRAVMAVGSLTINEERSEVVDFSVPFVETGISVMVSRS
N
GTVSPSAFLEPFSASVWVMMFVMLLIVSAIAVFVFEYFSPVGYNRNLAKGKAPHGPSFT
IGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEFVD
QVTGLSDKKFQRPHDYSPPFRFGTVPNGSTERNIRNNYPYMHQYMTKFNQKGVEDALVSL
KTGKLDAFIYDAAVLNYKAGRDEGCKLVTIGSGYIFATTGYGIALQKGSPWKRQIDLALL
QFVGDGEMEELETLWLTGICHNEKNEVMSSQLDIDNMAGVFYMLAAAM
ALSLITFIWEHL
FYWKLRFCFTGVCSDRPGLLFSISRGIYSCIHGVHIEEKKKSPDFNLTGSQSNMLKLLRS
AKNISSMSNMNSSRMDSPKRAADFIQRGSLIMDMVSDKGNLMYSDNRSFQGKESIFGDNM
NELQTFVANRQKDNLNNYVFQGQHPLTLNESNPNTVEVAVSTESKANSRPRQLWKKSVDS
IRQDSLSQNPVSQRDEATAENRTHSLKSPRYLPEEMAHSDISETSNRATCHREPDNSKNH
KTKDNFKRSVASKYPKDCSEVERTYLKTKSSSPRDKIYTIDGEKEPGFHLDPPQFVENVT
LPENVDFPDPYQDPSENFRKGDSTLPMNRNPLHNEEGLSNNDQYKLYSKHFTLKDKGSPH
SETSERYRQNSTHCRSCLSNMPTYSGHFTMRSPFKCDACLRMGNLYDIDEDQMLQETGNP
ATGEQVYQQDWAQNNALQLQKNKLRISRQHSYDNIVDKPRELDLSRPSRSISLKDRERLL
EGNFYGSLFSVPSSKLSGKKSSLFPQGLEDSKRSKSLLPDHTSDNPFLHSHRDDQRLVIG
RCPSDPYKHSLPSQAVNDSYLRSSLRSTASYCSRDSRGHNDVYISEHVMPYAANKNNMYS
TPRVLNSCSNRRVYKKMPSIESDV
Sequence length 1464
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
cAMP signaling pathway
Neuroactive ligand-receptor interaction
Circadian entrainment
Long-term potentiation
Glutamatergic synapse
Dopaminergic synapse
Alzheimer disease
Amyotrophic lateral sclerosis
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
Amphetamine addiction
Nicotine addiction
Alcoholism
Systemic lupus erythematosus
  Unblocking of NMDA receptors, glutamate binding and activation
Synaptic adhesion-like molecules
Assembly and cell surface presentation of NMDA receptors
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Landau-Kleffner Syndrome landau-kleffner syndrome rs1057524089, rs1900702353, rs397518465, rs397518467, rs1555492763, rs1596587476, rs1060503228, rs2042854251, rs1238779318, rs397518468, rs796052562, rs1596377439, rs1064796608, rs2043686667, rs1555488119
View all (45 more)
N/A
Mental retardation intellectual disability rs1596476657 N/A
Dystonia Dystonia, intellectual disability and language impairment rs879253875 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Bipolar Disorder Bipolar disorder, Bipolar I disorder N/A N/A GWAS
Developmental Delay global developmental delay N/A N/A ClinVar
Epilepsy self-limited epilepsy with centrotemporal spikes N/A N/A GenCC
Epileptic encephalopathy epileptic encephalopathy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 36705386
Adrenal Hyperplasia Congenital Associate 35177115
Alcohol Related Disorders Associate 40149474
Alcoholism Associate 19736238
Alzheimer Disease Inhibit 15287897
Alzheimer Disease Associate 34269494, 37302762, 39210294, 39650656
Anti N Methyl D Aspartate Receptor Encephalitis Associate 32771066
Aphasia Associate 23933818, 25596506, 28242877, 28936771
Apraxias Associate 22738016, 25596506
Arthritis Rheumatoid Associate 28767591