Gene Report

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)

GO terms by database search (count: 32)

Gene related KEGG pathways (count: 3)

KEGG pathways by PBA (count: 1)

KEGG pathways by database search (count: 2)

Gene related BioCarta pathways (count: 0)

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

Related other genetic factors
Gene related SNPs (count: 10)

Literature-origin SNPs (count: 10)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 4)

Gene related regions (count: 2)

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

Overlap with SZ from cross-disorder studies (count: 2)

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

Gene relationship with MDD

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

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

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Region: chr12:13437942..13981957 View in gBrowse
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