Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2904
Gene name Gene Name - the full gene name approved by the HGNC.
Glutamate ionotropic receptor NMDA type subunit 2B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GRIN2B
Synonyms (NCBI Gene) Gene synonyms aliases
DEE27, EIEE27, GluN2B, MRD6, NMDAR2B, NR2B, NR3, hNR3
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs138771137 G>A Conflicting-interpretations-of-pathogenicity, benign, likely-benign Synonymous variant, coding sequence variant
rs141109968 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs199526748 T>C Conflicting-interpretations-of-pathogenicity Missense variant, genic upstream transcript variant, coding sequence variant
rs199707487 G>A,T Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity Synonymous variant, genic upstream transcript variant, coding sequence variant
rs200608452 G>A Likely-benign, conflicting-interpretations-of-pathogenicity Synonymous variant, genic upstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT623746 hsa-miR-126-3p HITS-CLIP 23824327
MIRT614963 hsa-miR-4766-5p HITS-CLIP 23824327
MIRT614962 hsa-miR-4762-3p HITS-CLIP 23824327
MIRT657587 hsa-miR-3184-3p HITS-CLIP 23824327
MIRT657585 hsa-miR-3691-3p HITS-CLIP 23824327
Transcription factors
Transcription factor Regulation Reference
HDAC1 Activation 19081374
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 NAS 26719327
GO:0004972 Function NMDA glutamate receptor activity IBA
GO:0004972 Function NMDA glutamate receptor activity IDA 24272827, 26919761, 38538865
GO:0004972 Function NMDA glutamate receptor activity IEA
GO:0004972 Function NMDA glutamate receptor activity ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138252 4586 ENSG00000273079
Protein
UniProt ID Q13224
Protein 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)
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:24272827, PubMed:24863970, PubMed:26875626,
PDB 5EWJ , 5EWL , 5EWM , 7EU8 , 7KL0 , 7KL1 , 7KL2 , 7UIS , 7UJP , 7UJQ , 7UJR , 7UJS , 7UJT , 8VUU , 8VUV , 9D37 , 9D38 , 9D39 , 9D3A , 9D3B , 9D3C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01094 ANF_receptor 60 371 Receptor family ligand binding region Family
PF10613 Lig_chan-Glu_bd 404 542 Ligated ion channel L-glutamate- and glycine-binding site Domain
PF00060 Lig_chan 555 829 Ligand-gated ion channel Family
PF10565 NMDAR2_C 840 1484 N-methyl D-aspartate receptor 2B3 C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Primarily found in the fronto-parieto-temporal cortex and hippocampus pyramidal cells, lower expression in the basal ganglia. {ECO:0000269|PubMed:9547169}.
Sequence
MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTSDEVAIKDAHEKDDFH
HLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVFADDTDQEAIAQILDFISAQTL
TPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEEYDWYIFSIVTTYFPGYQ
DFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKKLQSPIILLYCTKEEATYI
FEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVSYDEWDYGLPARVRDGIAII
TTAASDMLSEHSFIPEPKSSCYNTHEKRIYQSNMLNRYLINVTFEGRNLSFSEDGYQMHP
KLVIILLNKER
KWERVGKWKDKSLQMKYYVWPRMCPETEEQEDDHLSIVTLEEAPFVIVE
SVDPLSGTCMRNTVPCQKRIVTENKTDEEPGYIKKCCKGFCIDILKKISKSVKFTYDLYL
VTNGKHGKKINGTWNGMIGEVVMKRAYMAVGSLTINEERSEVVDFSVPFIETGISVMVSR
SN
GTVSPSAFLEPFSADVWVMMFVMLLIVSAVAVFVFEYFSPVGYNRCLADGREPGGPSF
TIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEYV
DQVSGLSDKKFQRPNDFSPPFRFGTVPNGSTERNIRNNYAEMHAYMGKFNQRGVDDALLS
LKTGKLDAFIYDAAVLNYMAGRDEGCKLVTIGSGKVFASTGYGIAIQKDSGWKRQVDLAI
LQLFGDGEMEELEALWLTGICHNEKNEVMSSQLDIDNMAGVFYMLGAAM
ALSLITFICEH
LFYWQFRHCFMGVCSGKPGMVFSISRGIYSCIHGVAIEERQSVMNSPTATMNNTHSNILR
LLRTAKNMANLSGVNGSPQSALDFIRRESSVYDISEHRRSFTHSDCKSYNNPPCEENLFS
DYISEVERTFGNLQLKDSNVYQDHYHHHHRPHSIGSASSIDGLYDCDNPPFTTQSRSISK
KPLDIGLPSSKHSQLSDLYGKFSFKSDRYSGHDDLIRSDVSDISTHTVTYGNIEGNAAKR
RKQQYKDSLKKRPASAKSRREFDEIELAYRRRPPRSPDHKRYFRDKEGLRDFYLDQFRTK
ENSPHWEHVDLTDIYKERSDDFKRDSVSGGGPCTNRSHIKHGTGDKHGVVSGVPAPWEKN
LTNVEWEDRSGGNFCRSCPSKLHNYSTTVTGQNSGRQACIRCEACKKAGNLYDISEDNSL
QELDQPAAPVAVTSNASTTKYPQSPTNSKAQKKNRNKLRRQHSYDTFVDLQKEEAALAPR
SVSLKDKGRFMDGSPYAHMFEMSAGESTFANNKSSVPTAGHHHHNNPGGGYMLSKSLYPD
RVTQNPFIPTFGDDQCLLHGSKSYFFRQPTVAGASKARPDFRALVTNKPVVSALHGAVPA
RFQKDICIGNQSNPCVPNNKNPRAFNGSSNGHVYEKLSSIESDV
Sequence length 1484
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
Huntington disease
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
Amphetamine addiction
Nicotine addiction
Alcoholism
Systemic lupus erythematosus
  EPHB-mediated forward signaling
Unblocking of NMDA receptors, glutamate binding and activation
RAF/MAP kinase cascade
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
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy, 27 rs1135401799, rs397514556, rs1591638805, rs672601376, rs879253931, rs774592932, rs1060499659, rs672601377, rs1591609136, rs886041295, rs876661151 N/A
Mental retardation intellectual disability, Intellectual disability, autosomal dominant 6 rs398122823, rs1555110818, rs876661064, rs1591612317, rs1057519004, rs397514556, rs796052571, rs876661151, rs1591612370, rs1057518700, rs1135401799, rs1555110843, rs876661041, rs763436882, rs774592932
View all (33 more)
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
Anxiety Disorder Anxiety N/A N/A GWAS
Barrett esophagus Barrett's esophagus N/A N/A GWAS
Epileptic encephalopathy epileptic encephalopathy N/A N/A ClinVar
Infantile Spasms infantile spasms N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Akathisia Drug Induced Associate 23226551
Alcohol Related Disorders Associate 35893069
Alcoholism Associate 19736238, 27498914
Alzheimer Disease Inhibit 15287897
Alzheimer Disease Associate 20197096, 20882066, 22800732, 33522999, 35246269, 36006974, 37930868, 39210294
Androgen Insensitivity Syndrome Associate 24863970
Anti N Methyl D Aspartate Receptor Encephalitis Associate 23648631, 32771066
Anxiety Associate 29921740
Attention Deficit and Disruptive Behavior Disorders Inhibit 29864525
Attention Deficit Disorder with Hyperactivity Associate 17010153, 23718928, 34440367, 34923109, 37578679, 37667328