BDgene

Gene Report

Basic Info
Approved Symbol DUSP6
Symbol Alias MKP-3, PYST1
Approved Name dual specificity phosphatase 6
Location 12q22-q23
Position chr12:89347232-89353271, -1
External Links HGNC: 3072
Entrez Gene: 1848
Ensembl: ENSG00000139318
UCSC: uc001tay.4
No. of Studies 5 (Positive: 3; Negative: 2; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 5)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Kim, S. H., 2012 (a) SNP: rs2279574, rs704073, rs704076, rs769700, rs770087, rs808820
Haplotype: rs769700 - rs704076 - rs770087 - rs808820 - rs2279574(T-G-T-A-T), rs769700 - rs704076 - rs770087 - rs808820 - rs2279574(T-G-T-A-G), rs769700 - rs704076 - rs770087 - rs808820 - rs2279574(C-T-G-G-G)
DUSP6 may not only play important roles in the pathogenesis of bipolar disorder, particularly in women, but also affect the therapeutic response to lithium through modulating lithium's effects on intracellular signaling. Positive Comment on Study
Toyota, T,2000 Other variant: DUSP6_Leu114Val No evidence for a significant disease-causing effect was found in Japanese unipolars (n = 132) and bipolars (n = 122), when compared with controls (n = 299). Negative Comment on Study
Lee, K. Y., 2006 (a) SNP: rs2279574 In conclusion, our results demonstrated for the first time that in the Korean population DUSP6 gene may contribute to the etiology of bipolar disorder, but not to schizophrenia. Positive Comment on Study
Toyota, T.,2000 Other variant: DUSP6_exon1_Leu111Val No evidence for a significant disease-causing effect was found in Japanese unipolars (n = 132) and bipolars (n = 122), when compared with controls (n = 299). Negative Comment on Study
Yosifova, A.,2009 SNP: rs2279574 Significant association of SNP in this gene with BD in our population was observed. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 32)

GO terms by PBA (count: 2)

GO terms by database search (count: 30)


Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

KEGG pathways by database search (count: 0)


Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 4)

Related other genetic factors
Gene related SNPs (count: 19)

Literature-origin SNPs (count: 6)

LD-proxies (count: 13)


Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Gene related regions (count: 3)

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: 1)


Gene relationship with MDD

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

Overlap with MDD from candidate gene intersection analysis (count: 0)


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Region: chr12:89347232..89353271 View in gBrowse
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