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	GRIN2B
Previous Symbol	NMDAR2B
Symbol Alias	GluN2B
Approved Name	glutamate receptor, ionotropic, N-methyl D-aspartate 2B
Location	12p13.1
Position	chr12:13437942-13981957, -1
External Links	HGNC: 4586 Entrez Gene: 2904 Ensembl: ENSG00000273079 UCSC: uc001rbt.2
No. of Studies	8 (Positive: 4; Negative: 4; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Gene related studies (count: 8)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Fallin, M. D.,2005		31 SNP typed, Median D'=0.22, Median r<sup>2</sup> =0.02, 10 LD blocks, 0.51 block coverage, there exists SNP or haplotype nominal P-value < 0.01 in BP and all SNP or haplotype P-value > 0.05 in SZ/SZA.. This gene is highly suggestive to BP , not suggestive to SZ/SZA.	Positive	Comment on Study
Yosifova, A.,2009	SNP: rs1805502, rs1806201, rs7301328	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study
Szczepankiewicz, A.,2009(b)	SNP: rs890 Other variant: GRIN2B_-200G/T, GRIN2B_366C/G	No association was found between the three polymorphisms and bipolar disorder. In linkage disequilibrium analysis we did not find linkage between the three polymorphisms of GRIN2B gene. The polymorphisms of GRIN2B gene analysed in this study are not likely to be associated with bipolar disorder.	Negative	Comment on Study
Drago, A., 2016		Freq(Significant SNPs/total SNPs%)=0.05. Encodes for a subunit of the ionotropic receptor of Glutamate. It is essential for the correct functioning of the brain.	Positive	Comment on Study
Dalvie, S.,2010	SNP: rs1019385	There were no significant difference in SNP allele frequencies between cases and controls.	Negative	Comment on Study
Martucci, L., 2006	Haplotype: GRIN2B_T200G - GRIN2B_A5806C - GRIN2B_T5988C(T-C-C), GRIN2B_T200G - GRIN2B_A5806C - GRIN2B_T5988C(T-A-C), GRIN2B_T200G - GRIN2B_A5806C - GRIN2B_T5988C(G-C-C), GRIN2B_T200G - GRIN2B_A5806C - GRIN2B_T5988C(G-A-C), GRIN2B_T200G - GRIN2B_A5806C - GRIN2B_T5988C(T-C-T), GRIN2B_T200G - GRIN2B_A5806C - GRIN2B_T5988C(G-C-T) Other variant: GRIN2B_T5988C, GRIN2B_A5806C, GRIN2B_-200G/T	GRIN2B expression levels in schizophrenia, bipolar disorder and controls were not significantly different. The genetic findings suggest a role for GRIN2B in schizophrenia and bipolar disorder.	Positive	Comment on Study
Zhao, Q.,2011	SNP: rs1805247, rs1805502, rs7301328 Haplotype: rs1805502 - rs1805247(A-A), rs1805502 - rs1805247(A-G), rs1805502 - rs1805247(G-G)	Rs1805247 and the haplotype consisting of rs1805502 and rs1805247 were significantly associated, suggesting GRIN2B as having a role in the etiology of bipolar disorder.	Positive	Comment on Study
Djurovic, S.,2010	SNP: rs7310876, rs753950	No significant association of this gene was observed in BD.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 39)

GO terms by PBA (count: 7)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0005887	integral component of plasma membrane	cellular component	TAS[8768735]	158
GO:0005262	calcium channel activity	molecular function	IEA	9
GO:0007268	synaptic transmission	biological process	TAS	116
GO:0005234	extracellular-glutamate-gated ion channel activity	molecular function	IBA	12
GO:0007411	axon guidance	biological process	TAS	60
GO:0045211	postsynaptic membrane	cellular component	IBA	68

GO terms by database search (count: 32)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0007611	learning or memory	biological process	TAS[10485705]	13
GO:0097481	neuronal postsynaptic density	cellular component	IEA	6
GO:0010738	regulation of protein kinase A signaling	biological process	IEA	3
GO:0005515	protein binding	molecular function	IPI[11937501]	563
GO:0017146	N-methyl-D-aspartate selective glutamate receptor complex	cellular component	IDA[10480938]	5
GO:0001662	behavioral fear response	biological process	IEA	16
GO:0006810	transport	biological process	TAS[8768735]	47
GO:0035235	ionotropic glutamate receptor signaling pathway	biological process	IBA	13
GO:0048167	regulation of synaptic plasticity	biological process	IEA	9
GO:0035249	synaptic transmission, glutamatergic	biological process	IBA	14
GO:0048266	behavioral response to pain	biological process	IEA	4
GO:0001964	startle response	biological process	IEA	7
GO:0030054	cell junction	cellular component	IEA	88
GO:0050966	detection of mechanical stimulus involved in sensory perception of pain	biological process	IEA	4
GO:0060079	regulation of excitatory postsynaptic membrane potential	biological process	IEA	10
GO:0045471	response to ethanol	biological process	IDA[18445116]	24
GO:0030425	dendrite	cellular component	IBA	65
GO:0016594	glycine binding	molecular function	IDA[17047094]	6
GO:0004972	N-methyl-D-aspartate selective glutamate receptor activity	molecular function	IBA	5
GO:0043005	neuron projection	cellular component	ISS	38
GO:0007613	memory	biological process	IEA	22
GO:0070588	calcium ion transmembrane transport	biological process	IEA	24
GO:0007612	learning	biological process	IEA	18
GO:0009986	cell surface	cellular component	ISS	40
GO:0001967	suckling behavior	biological process	IEA	3
GO:0007423	sensory organ development	biological process	IEA	1
GO:0034220	ion transmembrane transport	biological process	IBA	50
GO:0008021	synaptic vesicle	cellular component	IEA	13
GO:0007215	glutamate receptor signaling pathway	biological process	TAS[8768735]	7
GO:0048013	ephrin receptor signaling pathway	biological process	TAS	11
GO:0008270	zinc ion binding	molecular function	ISS	77
GO:0001701	in utero embryonic development	biological process	IEA	17

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04720	Long-term potentiation	13

KEGG pathways by database search (count: 2)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04080	Neuroactive ligand-receptor interaction	92
hsa05322	Systemic lupus erythematosus	4

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 27)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
GRIN2B	INADL	NO	in vitro;in vivo;yeast 2-hybrid	9647694
GRIN2B	LIN7B	NO	in vitro;in vivo	10341223
GRIN2B	GRIN1	YES	in vivo	8139656 , 15030493 , 12191494
GRIN2B	IL16	NO	yeast 2-hybrid	10479680
GRIN2B	CAPN1	NO	in vitro;in vivo	10846184
GRIN2B	TANC1	NO	in vivo	15673434
GRIN2B	SRC	NO	in vitro;in vivo	10884433 , 11024032 , 11483655
GRIN2B	PIK3CA	NO	in vitro;in vivo	10620012
GRIN2B	PTPN11	NO	in vitro;in vivo	10381539
GRIN2B	PRKCG	NO	in vitro;in vivo	12147342 , 8940188 , 11306676
GRIN2B	MAGI3	NO	yeast 2-hybrid	10748157
GRIN2B	CAMK2N1	NO	in vivo	12650977
GRIN2B	PRKCB	NO	in vitro;in vivo	12147342 , 8940188 , 11306676
GRIN2B	DLG2	YES	in vitro;in vivo	9806853 , 11997254 , 12890763
GRIN2B	AP2M1	NO	yeast 2-hybrid	15254094
GRIN2B	CAMK2D	NO	in vitro	16436603 , 16120608
GRIN2B	DLG4	NO	in vitro;in vivo;yeast 2-hybrid	8601796 , 10488080 , 11937501 , 9581762 , 7569905 , 16990796
GRIN2B	CAMK2A	YES	in vitro;in vivo	16436603 , 11306676 , 8940188 , 12147342 , 11459059 , 16120608
GRIN2B	AP1M1	NO	yeast 2-hybrid	15254094
GRIN2B	PRKCA	NO	in vitro;in vivo	12147342 , 8940188 , 11306676
GRIN2B	CAMK2G	NO	in vitro	16436603 , 16120608
GRIN2B	CAMK2B	NO	in vitro;in vivo	16436603 , 11306676 , 8940188 , 12147342
GRIN2B	ACTN2	NO	in vivo	9009191
GRIN2B	GNB2L1	NO	in vitro;in vivo	12524444
GRIN2B	AP4M1	NO	yeast 2-hybrid	15254094
GRIN2B	EPHB2	NO	in vitro;in vivo	11799243
GRIN2B	LIN7A	NO	in vitro	10341223

Related other genetic factors

Gene related SNPs (count: 10)

Literature-origin SNPs (count: 10)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1806201	chr12:13564574 - 13564574(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant	1(0/1/0)
rs7301328	chr12:13865843 - 13865843(1)	downstream_gene_variant; synonymous_variant	2(0/2/0)
rs1805502	chr12:13561247 - 13561247(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant	2(0/2/0)
rs753950	chr12:13404799 - 13404799(1)		1(0/1/0)
rs890	chr12:13562374 - 13562374(1)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; upstream_gene_variant	1(0/1/0)
rs2268115	chr12:13716791 - 13716791(1)	intron_variant	1(1/0/0)
rs7310876	chr12:13406433 - 13406433(1)		1(0/1/0)
rs220592	chr12:13812374 - 13812374(1)	intron_variant	1(1/0/0)
rs1019385	chr12:13981909 - 13981909(1)	intron_variant; splice_region_variant; upstream_gene_variant	1(0/1/0)
rs1805247	chr12:13563041 - 13563041(1)	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant	1(1/0/0)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 4)

Variant Name	Variant Type	No. of Studies (Positive/Negative/Trend)
GRIN2B_T5988C	point mutation	1 (1/0/0)
GRIN2B_A5806C	point mutation	1 (1/0/0)
GRIN2B_366C/G	point mutation	1 (0/1/0)
GRIN2B_-200G/T	point mutation	2 (0/2/0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 12	chr12:0-133275309	3 (0/3/0)
12p13	chr12:0-14600000	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: 2)

Reference	Description	Result Category
16549338	GRIN2B expression levels in schizophrenia, bipolar disorder and controls were not significantly different. The genetic findings suggest a role for GRIN2B in schizophrenia and bipolar disorder.	Positive
16380905	This gene is highly suggestive to BP , not suggestive to SZ/SZA.	Negative

Overlap with SZ from candidate gene intersection analysis (count: 12)

Reference	ID in SZGene	Result Category
15211626	135	Trend
12476325	135	Positive
19158809	135	Negative
16266783	135	Negative
15841096	135	Positive
20421849	135	Negative
11317224	135	Positive
16549338	135	Positive
12824739	135	Negative
16380905	135	Negative
12082569	135	Negative
10910800	135	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
19605536	Upregulated in MDD patients	Pos	GRIN2B

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Region: chr12:13437942..13981957 View in gBrowse