GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B)

2007-04-01 Affiliation

Identity

HGNC

GRIN2B

LOCATION

12p13.1

LOCUSID

2904

ALIAS

DEE27,EIEE27,GluN2B,MRD6,NMDAR2B,NR2B,NR3,hNR3

FUSION GENES

Show Gene Fusions

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)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Neuroactive ligand-receptor interaction	KEGG	ko04080
Long-term potentiation	KEGG	ko04720
Alzheimer's disease	KEGG	ko05010
Amyotrophic lateral sclerosis (ALS)	KEGG	ko05014
Huntington's disease	KEGG	ko05016
Systemic lupus erythematosus	KEGG	ko05322
Neuroactive ligand-receptor interaction	KEGG	hsa04080
Long-term potentiation	KEGG	hsa04720
Alzheimer's disease	KEGG	hsa05010
Amyotrophic lateral sclerosis (ALS)	KEGG	hsa05014
Huntington's disease	KEGG	hsa05016
Systemic lupus erythematosus	KEGG	hsa05322
Glutamatergic synapse	KEGG	ko04724
Glutamatergic synapse	KEGG	hsa04724
Dopaminergic synapse	KEGG	ko04728
Dopaminergic synapse	KEGG	hsa04728
Cocaine addiction	KEGG	hsa05030
Cocaine addiction	KEGG	ko05030
Amphetamine addiction	KEGG	hsa05031
Amphetamine addiction	KEGG	ko05031
Nicotine addiction	KEGG	hsa05033
Nicotine addiction	KEGG	ko05033
Alcoholism	KEGG	hsa05034
Alcoholism	KEGG	ko05034
Circadian entrainment	KEGG	hsa04713
Circadian entrainment	KEGG	ko04713
Ras signaling pathway	KEGG	hsa04014
Rap1 signaling pathway	KEGG	hsa04015
Rap1 signaling pathway	KEGG	ko04015
cAMP signaling pathway	KEGG	hsa04024
cAMP signaling pathway	KEGG	ko04024
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	REACTOME	R-HSA-112314
Activation of NMDA receptor upon glutamate binding and postsynaptic events	REACTOME	R-HSA-442755
Unblocking of NMDA receptor, glutamate binding and activation	REACTOME	R-HSA-438066
Post NMDA receptor activation events	REACTOME	R-HSA-438064
CREB phosphorylation through the activation of Ras	REACTOME	R-HSA-442742
Ras activation uopn Ca2+ infux through NMDA receptor	REACTOME	R-HSA-442982
CREB phosphorylation through the activation of CaMKII	REACTOME	R-HSA-442729
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
DAP12 interactions	REACTOME	R-HSA-2172127
DAP12 signaling	REACTOME	R-HSA-2424491
RAF/MAP kinase cascade	REACTOME	R-HSA-5673001
Fc epsilon receptor (FCERI) signaling	REACTOME	R-HSA-2454202
FCERI mediated MAPK activation	REACTOME	R-HSA-2871796
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Signaling by Interleukins	REACTOME	R-HSA-449147
Interleukin-2 signaling	REACTOME	R-HSA-451927
Interleukin receptor SHC signaling	REACTOME	R-HSA-912526
Interleukin-3, 5 and GM-CSF signaling	REACTOME	R-HSA-512988
Signal Transduction	REACTOME	R-HSA-162582
Signaling by EGFR	REACTOME	R-HSA-177929
GRB2 events in EGFR signaling	REACTOME	R-HSA-179812
SHC1 events in EGFR signaling	REACTOME	R-HSA-180336
Signaling by Insulin receptor	REACTOME	R-HSA-74752
Insulin receptor signalling cascade	REACTOME	R-HSA-74751
IRS-mediated signalling	REACTOME	R-HSA-112399
SOS-mediated signalling	REACTOME	R-HSA-112412
Signalling by NGF	REACTOME	R-HSA-166520
NGF signalling via TRKA from the plasma membrane	REACTOME	R-HSA-187037
Signalling to ERKs	REACTOME	R-HSA-187687
Signalling to RAS	REACTOME	R-HSA-167044
Signalling to p38 via RIT and RIN	REACTOME	R-HSA-187706
Prolonged ERK activation events	REACTOME	R-HSA-169893
Frs2-mediated activation	REACTOME	R-HSA-170968
ARMS-mediated activation	REACTOME	R-HSA-170984
Signaling by PDGF	REACTOME	R-HSA-186797
Downstream signal transduction	REACTOME	R-HSA-186763
Signaling by VEGF	REACTOME	R-HSA-194138
VEGFA-VEGFR2 Pathway	REACTOME	R-HSA-4420097
VEGFR2 mediated cell proliferation	REACTOME	R-HSA-5218921
Signaling by SCF-KIT	REACTOME	R-HSA-1433557
MAPK family signaling cascades	REACTOME	R-HSA-5683057
MAPK1/MAPK3 signaling	REACTOME	R-HSA-5684996
Signaling by GPCR	REACTOME	R-HSA-372790
Gastrin-CREB signalling pathway via PKC and MAPK	REACTOME	R-HSA-881907
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	REACTOME	R-HSA-2404192
IGF1R signaling cascade	REACTOME	R-HSA-2428924
IRS-related events triggered by IGF1R	REACTOME	R-HSA-2428928
Signaling by Leptin	REACTOME	R-HSA-2586552
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
NCAM signaling for neurite out-growth	REACTOME	R-HSA-375165
EPH-Ephrin signaling	REACTOME	R-HSA-2682334
EPHB-mediated forward signaling	REACTOME	R-HSA-3928662
SALM protein interactions at the synapses	REACTOME	R-HSA-8849932
Protein-protein interactions at synapses	REACTOME	R-HSA-6794362
Interactions of neurexins and neuroligins at synapses	REACTOME	R-HSA-6794361
RET signaling	REACTOME	R-HSA-8853659

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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