Identity
HGNC
LOCATION
12p13.1
LOCUSID
ALIAS
DEE27,EIEE27,GluN2B,MRD6,NMDAR2B,NR2B,NR3,hNR3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2904
MIM: 138252
HGNC: 4586
Ensembl: ENSG00000273079
Variants:
dbSNP: 2904
ClinVar: 2904
TCGA: ENSG00000273079
COSMIC: GRIN2B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000273079 | ENST00000609686 | Q13224 |
| ENSG00000273079 | ENST00000627535 | A0A0D9SFK0 |
| ENSG00000273079 | ENST00000630791 | A0A0D9SFK0 |
| ENSG00000273079 | ENST00000637214 | A0A1B0GU78 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10344 | acamprosate | Chemical | ClinicalAnnotation, Literature, MultilinkAnnotation | associated | PD | 25290263 | |
| PA443309 | Alcoholism | Disease | ClinicalAnnotation | associated | PD | ||
| PA443937 | Drug Toxicity | Disease | ClinicalAnnotation | associated | PD | 23859574 | |
| PA444065 | Epilepsy | Disease | ClinicalAnnotation | associated | PK | PD | 21806385 |
| PA447197 | Attention Deficit Disorder with Hyperactivity | Disease | VariantAnnotation | associated | PD | 27624150 | |
| PA447216 | Schizophrenia | Disease | ClinicalAnnotation | associated | PD | 26876050 | |
| PA449061 | clozapine | Chemical | ClinicalAnnotation | associated | PD | 26876050 | |
| PA449841 | haloperidol | Chemical | MultilinkAnnotation | associated | 27023437 | ||
| PA450464 | methylphenidate | Chemical | VariantAnnotation | associated | PD | 27624150 | |
| PA451201 | quetiapine | Chemical | ClinicalAnnotation | associated | PD | 23859574 | |
| PA451257 | risperidone | Chemical | ClinicalAnnotation | associated | PD | 23859574 | |
| PA451846 | valproic acid | Chemical | ClinicalAnnotation | associated | PK | PD | 21806385 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36399225 | 2024 | Single-locus and Haplotype Associations of GRIN2B Gene with Autism Spectrum Disorders and the Demographic and Clinical Characteristics of Patients in Guilan, Iran. | 0 |
| 37578679 | 2024 | Gene Interaction of Dopaminergic Synaptic Pathway Genes in Attention-Deficit Hyperactivity Disorder: a Case-Control Study in Chinese Children. | 1 |
| 38214768 | 2024 | Disease-associated nonsense and frame-shift variants resulting in the truncation of the GluN2A or GluN2B C-terminal domain decrease NMDAR surface expression and reduce potentiating effects of neurosteroids. | 0 |
| 38731978 | 2024 | Dual Role of NMDAR Containing NR2A and NR2B Subunits in Alzheimer's Disease. | 0 |
| 36399225 | 2024 | Single-locus and Haplotype Associations of GRIN2B Gene with Autism Spectrum Disorders and the Demographic and Clinical Characteristics of Patients in Guilan, Iran. | 0 |
| 37578679 | 2024 | Gene Interaction of Dopaminergic Synaptic Pathway Genes in Attention-Deficit Hyperactivity Disorder: a Case-Control Study in Chinese Children. | 1 |
| 38214768 | 2024 | Disease-associated nonsense and frame-shift variants resulting in the truncation of the GluN2A or GluN2B C-terminal domain decrease NMDAR surface expression and reduce potentiating effects of neurosteroids. | 0 |
| 38731978 | 2024 | Dual Role of NMDAR Containing NR2A and NR2B Subunits in Alzheimer's Disease. | 0 |
| 35393335 | 2023 | Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B. | 2 |
| 36224322 | 2023 | Carnosic Acid Attenuates AβOs-Induced Apoptosis and Synaptic Impairment via Regulating NMDAR2B and Its Downstream Cascades in SH-SY5Y Cells. | 4 |
| 36502323 | 2023 | NMDA Receptor GluN2B Subunit Is Involved in Excitotoxicity Mediated by Death-Associated Protein Kinase 1 in Alzheimer's Disease. | 3 |
| 36848775 | 2023 | GRIN2B gene expression is increased in the anterior cingulate cortex in major depression. | 0 |
| 36898314 | 2023 | Correlations between GRIN2B and GRIN3A gene polymorphisms and postpartum depressive symptoms in Chinese parturients undergoing cesarean section: A prospective cohort study. | 1 |
| 37000222 | 2023 | Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening. | 1 |
| 37369021 | 2023 | Classification of missense variants in the N-methyl-d-aspartate receptor GRIN gene family as gain- or loss-of-function. | 4 |
Citation
Dessen P
GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47216/grin2b-(glutamate-ionotropic-receptor-nmda-type-subunit-2b)
