Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	GRIN2A
Previous Symbol	NMDAR2A
Symbol Alias	GluN2A
Approved Name	glutamate receptor, ionotropic, N-methyl D-aspartate 2A
Location	16p13.2
Position	chr16:9753404-10182754, -1
External Links	HGNC: 4585 Entrez Gene: 2903 Ensembl: ENSG00000183454 UCSC: uc002czo.4
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Itokawa, M.,2003	Other variant: GRIN2A_promoter_(GT)n	Our current finding that shows the over transmission of (GT)24 and (GT)25 alleles to affected offspring may support the hypoglutamatergic hypothesis for bipolar disorder.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 43)

GO terms by PBA (count: 6)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005262	calcium channel activity	molecular function	IEA	9
GO:0005887	integral component of plasma membrane	cellular component	TAS[8768735]	158
GO:0005234	extracellular-glutamate-gated ion channel activity	molecular function	IBA	12
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0045211	postsynaptic membrane	cellular component	IBA	68
GO:0005886	plasma membrane	cellular component	TAS	360

GO terms by database search (count: 37)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0019233	sensory perception of pain	biological process	IEA	15
GO:0022008	neurogenesis	biological process	IEA	4
GO:0070588	calcium ion transmembrane transport	biological process	IEA	24
GO:0051930	regulation of sensory perception of pain	biological process	IEA	7
GO:0005783	endoplasmic reticulum	cellular component	IEA	49
GO:0009986	cell surface	cellular component	ISS	40
GO:0097481	neuronal postsynaptic density	cellular component	IEA	6
GO:0042177	negative regulation of protein catabolic process	biological process	IEA	5
GO:0060079	regulation of excitatory postsynaptic membrane potential	biological process	IEA	10
GO:0004972	N-methyl-D-aspartate selective glutamate receptor activity	molecular function	IBA	5
GO:0042493	response to drug	biological process	IEA	57
GO:0045471	response to ethanol	biological process	IDA[18445116]	24
GO:0008270	zinc ion binding	molecular function	ISS	77
GO:0035249	synaptic transmission, glutamatergic	biological process	IBA	14
GO:0043065	positive regulation of apoptotic process	biological process	IEA	25
GO:0008021	synaptic vesicle	cellular component	IEA	13
GO:0030431	sleep	biological process	IEA	3
GO:0048167	regulation of synaptic plasticity	biological process	IEA	9
GO:0042428	serotonin metabolic process	biological process	IEA	3
GO:0007611	learning or memory	biological process	TAS[7816096]	13
GO:0001964	startle response	biological process	IEA	7
GO:0017146	N-methyl-D-aspartate selective glutamate receptor complex	cellular component	IDA[10480938]	5
GO:0007215	glutamate receptor signaling pathway	biological process	TAS[8768735]	7
GO:0007613	memory	biological process	IEA	22
GO:0042417	dopamine metabolic process	biological process	IEA	7
GO:0030054	cell junction	cellular component	IEA	88
GO:0030425	dendrite	cellular component	IBA	65
GO:0042734	presynaptic membrane	cellular component	IEA	16
GO:0035235	ionotropic glutamate receptor signaling pathway	biological process	IBA	13
GO:0009611	response to wounding	biological process	IEA	9
GO:0008104	protein localization	biological process	IEA	5
GO:0034220	ion transmembrane transport	biological process	IBA	50
GO:0005515	protein binding	molecular function	IPI[11937501]	563
GO:0006810	transport	biological process	TAS[8768735]	47
GO:0008542	visual learning	biological process	IEA	17
GO:0001975	response to amphetamine	biological process	IEA	19
GO:0033058	directional locomotion	biological process	IEA	1

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04720	Long-term potentiation	13
hsa04020	Calcium signaling pathway	53

KEGG pathways by database search (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 22)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GRIN2A	CASK	NO	in vitro	16637659
GRIN2A	PLCG1	YES	in vitro;in vivo	9231720
GRIN2A	AP1M1	NO	yeast 2-hybrid	15254094
GRIN2A	DLG3	YES	in vitro;in vivo	12070168 , 11937501
GRIN2A	INADL	NO	in vitro;in vivo;yeast 2-hybrid	9647694
GRIN2A	RGS3	NO	in vitro	16637659
GRIN2A	CAMK2A	YES	in vitro;in vivo	11104776 , 11222640 , 12147342
GRIN2A	IL16	NO	in vivo;yeast 2-hybrid	10479680
GRIN2A	DLG2	YES	in vitro;in vivo	10648730 , 12890763
GRIN2A	PRKCA	NO	in vitro;in vivo	11104776
GRIN2A	GRIN3B	NO	in vitro;in vivo	12008020
GRIN2A	CDK5	NO	in vitro	11675505
GRIN2A	CAMK2B	NO	in vitro;in vivo	12147342
GRIN2A	SRC	NO	in vitro;in vivo	12932824 , 10458595 , 10884433 , 10846184 , 10195142
GRIN2A	AP4M1	NO	yeast 2-hybrid	15254094
GRIN2A	PTPN4	NO	in vivo	10748123
GRIN2A	ACTN1	NO	in vivo	11854440
GRIN2A	DLG4	NO	in vitro;in vivo;yeast 2-hybrid	10336672 , 8601796 , 11222640 , 12419528 , 7569905 , 11937501 , 16990796
GRIN2A	GRIN3A	YES	in vivo	12391275
GRIN2A	DLGAP1	YES	in vivo	9286858
GRIN2A	PTK2B	YES	in vivo	11478920
GRIN2A	GRIN1	YES	in vivo	12191494 , 11803122 , 12068077 , 12893641 , 14732708 , 8139656 , 10862698

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
GRIN2A_promoter_(GT)n	microsatellite	promoter	1 (1/0/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 16	chr16:0-90338345	5 (1/3/1)
16p13.2	chr16:7800000-10400000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 4)

Reference	ID in SZGene	Result Category
17011703	147	Negative
16476413	147	Negative
15774266	147	Positive
12082569	147	Negative

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 0)

Overlap with MDD from candidate gene intersection analysis (count: 1)

Reference	Description	Category in MDD	Link in MK4MDD
17938633	Selected differentially expressed genes in BA44 to BA47 (ANOVA and t-test P < 0.01, fold change 1.3t)	Pos	GRIN2A

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Region: chr16:9753404..10182754 View in gBrowse