GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A)

2007-04-01  

Identity

HGNC
GRIN2A
LOCATION
16p13.2
LOCUSID
2903
ALIAS
EPND,FESD,GluN2A,LKS,NMDAR2A,NR2A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2903
MIM: 138253
HGNC: 4585
Ensembl: ENSG00000183454

Variants:

dbSNP: 2903
ClinVar: 2903
TCGA: ENSG00000183454
COSMIC: GRIN2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183454ENST00000330684Q12879
ENSG00000183454ENST00000330684Q547U9
ENSG00000183454ENST00000396573Q12879
ENSG00000183454ENST00000396573Q547U9
ENSG00000183454ENST00000535259F5GZ52
ENSG00000183454ENST00000562109Q12879
ENSG00000183454ENST00000636406A0A1B0GVW1
ENSG00000183454ENST00000637188A0A1B0GU35
ENSG00000183454ENST00000637393A0A1B0GUT1

Expression (GTEx)

0
5
10
15
20
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

PathwaySourceExternal ID
Calcium signaling pathwayKEGGko04020
Neuroactive ligand-receptor interactionKEGGko04080
Long-term potentiationKEGGko04720
Alzheimer's diseaseKEGGko05010
Amyotrophic lateral sclerosis (ALS)KEGGko05014
Systemic lupus erythematosusKEGGko05322
Calcium signaling pathwayKEGGhsa04020
Neuroactive ligand-receptor interactionKEGGhsa04080
Long-term potentiationKEGGhsa04720
Alzheimer's diseaseKEGGhsa05010
Amyotrophic lateral sclerosis (ALS)KEGGhsa05014
Systemic lupus erythematosusKEGGhsa05322
Glutamatergic synapseKEGGko04724
Glutamatergic synapseKEGGhsa04724
Dopaminergic synapseKEGGko04728
Dopaminergic synapseKEGGhsa04728
Cocaine addictionKEGGhsa05030
Cocaine addictionKEGGko05030
Amphetamine addictionKEGGhsa05031
Amphetamine addictionKEGGko05031
Nicotine addictionKEGGhsa05033
Nicotine addictionKEGGko05033
AlcoholismKEGGhsa05034
AlcoholismKEGGko05034
Circadian entrainmentKEGGhsa04713
Circadian entrainmentKEGGko04713
Ras signaling pathwayKEGGhsa04014
Rap1 signaling pathwayKEGGhsa04015
Rap1 signaling pathwayKEGGko04015
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic CellREACTOMER-HSA-112314
Activation of NMDA receptor upon glutamate binding and postsynaptic eventsREACTOMER-HSA-442755
Unblocking of NMDA receptor, glutamate binding and activationREACTOMER-HSA-438066
Post NMDA receptor activation eventsREACTOMER-HSA-438064
CREB phosphorylation through the activation of RasREACTOMER-HSA-442742
Ras activation uopn Ca2+ infux through NMDA receptorREACTOMER-HSA-442982
CREB phosphorylation through the activation of CaMKIIREACTOMER-HSA-442729
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
RAF/MAP kinase cascadeREACTOMER-HSA-5673001
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
FCERI mediated MAPK activationREACTOMER-HSA-2871796
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-2 signalingREACTOMER-HSA-451927
Interleukin receptor SHC signalingREACTOMER-HSA-912526
Interleukin-3, 5 and GM-CSF signalingREACTOMER-HSA-512988
Signal TransductionREACTOMER-HSA-162582
Signaling by EGFRREACTOMER-HSA-177929
GRB2 events in EGFR signalingREACTOMER-HSA-179812
SHC1 events in EGFR signalingREACTOMER-HSA-180336
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor signalling cascadeREACTOMER-HSA-74751
IRS-mediated signallingREACTOMER-HSA-112399
SOS-mediated signallingREACTOMER-HSA-112412
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Signalling to ERKsREACTOMER-HSA-187687
Signalling to RASREACTOMER-HSA-167044
Signalling to p38 via RIT and RINREACTOMER-HSA-187706
Prolonged ERK activation eventsREACTOMER-HSA-169893
Frs2-mediated activationREACTOMER-HSA-170968
ARMS-mediated activationREACTOMER-HSA-170984
Signaling by PDGFREACTOMER-HSA-186797
Downstream signal transductionREACTOMER-HSA-186763
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
VEGFR2 mediated cell proliferationREACTOMER-HSA-5218921
Signaling by SCF-KITREACTOMER-HSA-1433557
MAPK family signaling cascadesREACTOMER-HSA-5683057
MAPK1/MAPK3 signalingREACTOMER-HSA-5684996
Signaling by GPCRREACTOMER-HSA-372790
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)REACTOMER-HSA-2404192
IGF1R signaling cascadeREACTOMER-HSA-2428924
IRS-related events triggered by IGF1RREACTOMER-HSA-2428928
Signaling by LeptinREACTOMER-HSA-2586552
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
SALM protein interactions at the synapsesREACTOMER-HSA-8849932
Protein-protein interactions at synapsesREACTOMER-HSA-6794362
Interactions of neurexins and neuroligins at synapsesREACTOMER-HSA-6794361
RET signalingREACTOMER-HSA-8853659

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA449841haloperidolChemicalMultilinkAnnotationassociated27023437

References

Pubmed IDYearTitleCitations
382147682024Disease-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
383079122024Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders.0
383197332024METTL14-mediated m6A epitranscriptomic modification contributes to chemotherapy-induced neuropathic pain by stabilizing GluN2A expression via IGF2BP2.1
387319782024Dual Role of NMDAR Containing NR2A and NR2B Subunits in Alzheimer's Disease.0
382147682024Disease-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
383079122024Differential functional consequences of GRIN2A mutations associated with schizophrenia and neurodevelopmental disorders.0
383197332024METTL14-mediated m6A epitranscriptomic modification contributes to chemotherapy-induced neuropathic pain by stabilizing GluN2A expression via IGF2BP2.1
387319782024Dual Role of NMDAR Containing NR2A and NR2B Subunits in Alzheimer's Disease.0
365165652023GRIN2A-related epilepsy and speech disorders: A comprehensive overview with a focus on the role of precision therapeutics.1
370002222023Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.1
371075372023Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants.1
377367572023GRIN2A (NR2A): a gene contributing to glutamatergic involvement in schizophrenia.4
365165652023GRIN2A-related epilepsy and speech disorders: A comprehensive overview with a focus on the role of precision therapeutics.1
370002222023Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.1
371075372023Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants.1

Citation

Dessen P

GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47251