GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D)

2012-03-01 Affiliation

Identity

HGNC

GRIN2D

LOCATION

19q13.33

LOCUSID

2906

ALIAS

DEE46,EB11,EIEE46,GluN2D,NMDAR2D,NR2D

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: 2906
MIM: 602717
HGNC: 4588
Ensembl: ENSG00000105464

Variants:

dbSNP: 2906
ClinVar: 2906
TCGA: ENSG00000105464
COSMIC: GRIN2D

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000105464	ENST00000263269	O15399

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
Calcium signaling pathway	KEGG	ko04020
Neuroactive ligand-receptor interaction	KEGG	ko04080
Long-term potentiation	KEGG	ko04720
Alzheimer's disease	KEGG	ko05010
Amyotrophic lateral sclerosis (ALS)	KEGG	ko05014
Calcium signaling pathway	KEGG	hsa04020
Neuroactive ligand-receptor interaction	KEGG	hsa04080
Long-term potentiation	KEGG	hsa04720
Alzheimer's disease	KEGG	hsa05010
Amyotrophic lateral sclerosis (ALS)	KEGG	hsa05014
Glutamatergic synapse	KEGG	ko04724
Glutamatergic synapse	KEGG	hsa04724
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
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
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

cerebral cortex

cerebellum

hippocampus

caudate

hypothalamus

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

References

Pubmed ID	Year	Title	Citations
22833210	2011	Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.	68
19156168	2009	Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.	46
27616483	2016	GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.	43
22486492	2012	Pilot study of iPS-derived neural cells to examine biologic effects of alcohol on human neurons in vitro.	20
18444252	2008	Neurotransmission and bipolar disorder: a systematic family-based association study.	9
16094258	2005	Identification of single-nucleotide polymorphisms in the human N-methyl-D-aspartate receptor subunit NR2D gene, GRIN2D, and association study with schizophrenia.	8
28284346	2017	AMPA, NMDA and kainate glutamate receptor subunits are expressed in human peripheral blood mononuclear cells (PBMCs) where the expression of GluK4 is altered by pregnancy and GluN2D by depression in pregnant women.	6
29317596	2018	Rare loss of function mutations in N-methyl-D-aspartate glutamate receptors and their contributions to schizophrenia susceptibility.	5
12082569	2002	Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor.	4
19125103	2009	Association analysis of the glutamic acid decarboxylase 2 and the glutamine synthetase genes (GAD2, GLUL) with schizophrenia.	4

Citation

Dessen P

GRIN2D (glutamate ionotropic receptor NMDA type subunit 2D)

Atlas Genet Cytogenet Oncol Haematol. 2012-03-01

Online version: http://atlasgeneticsoncology.org/gene/52665/grin2d