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	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)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0045087	innate immune response	biological process	TAS	49
GO:0030154	cell differentiation	biological process	IEA	31

GO terms by database search (count: 30)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0034142	toll-like receptor 4 signaling pathway	biological process	TAS	8
GO:0002756	MyD88-independent toll-like receptor signaling pathway	biological process	TAS	7
GO:0060420	regulation of heart growth	biological process	IBA	1
GO:0042493	response to drug	biological process	IEA	57
GO:0002755	MyD88-dependent toll-like receptor signaling pathway	biological process	TAS	8
GO:0042663	regulation of endodermal cell fate specification	biological process	IBA	1
GO:0005829	cytosol	cellular component	IEA	223
GO:0035335	peptidyl-tyrosine dephosphorylation	biological process	IDA[8670865]	9
GO:0038123	toll-like receptor TLR1:TLR2 signaling pathway	biological process	TAS	8
GO:0005737	cytoplasm	cellular component	IDA[8670865]	322
GO:0002224	toll-like receptor signaling pathway	biological process	TAS	10
GO:0034146	toll-like receptor 5 signaling pathway	biological process	TAS	6
GO:0034134	toll-like receptor 2 signaling pathway	biological process	TAS	8
GO:0051409	response to nitrosative stress	biological process	IEP[10846176]	3
GO:0070373	negative regulation of ERK1 and ERK2 cascade	biological process	IMP[18771677]	4
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0038124	toll-like receptor TLR6:TLR2 signaling pathway	biological process	TAS	8
GO:0034166	toll-like receptor 10 signaling pathway	biological process	TAS	6
GO:0051403	stress-activated MAPK cascade	biological process	TAS	8
GO:0009953	dorsal/ventral pattern formation	biological process	IBA	3
GO:0000188	inactivation of MAPK activity	biological process	IDA[8670865]	3
GO:0004725	protein tyrosine phosphatase activity	molecular function	IEA	6
GO:0017017	MAP kinase tyrosine/serine/threonine phosphatase activity	molecular function	IDA[8670865]	1
GO:0040036	regulation of fibroblast growth factor receptor signaling pathway	biological process	IBA	3
GO:0043065	positive regulation of apoptotic process	biological process	IDA[10846176]	25
GO:0035666	TRIF-dependent toll-like receptor signaling pathway	biological process	TAS	7
GO:0034138	toll-like receptor 3 signaling pathway	biological process	TAS	7
GO:0034162	toll-like receptor 9 signaling pathway	biological process	TAS	7
GO:0014070	response to organic cyclic compound	biological process	IEA	4
GO:0048011	neurotrophin TRK receptor signaling pathway	biological process	TAS	33

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa04010	MAPK signaling pathway	39

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)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
DUSP6	MDFI	NO	yeast 2-hybrid	16189514
DUSP6	MAPK3	NO	in vitro	9535927 , 12840032
DUSP6	TEX11	NO	yeast 2-hybrid	16189514
DUSP6	MAPK1	NO	in vitro;in vivo	15632084

Related other genetic factors

Gene related SNPs (count: 19)

Literature-origin SNPs (count: 6)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs704076	chr12:89350144 - 89350144(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs769700	chr12:89349837 - 89349837(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs704073	chr12:89347934 - 89347934(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant	1(1/0/0)
rs2279574	chr12:89351700 - 89351700(1)	missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	3(3/0/0)
rs770087	chr12:89350996 - 89350996(1)	downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs808820	chr12:89351049 - 89351049(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; start_lost	1(1/0/0)

LD-proxies (count: 13)

rs_ID	Location	Functional Annotation
rs1689411	chr12:89357308 - 89357308(1)	downstream_gene_variant; upstream_gene_variant
rs1689410	chr12:89357864 - 89357864(1)	downstream_gene_variant; upstream_gene_variant
rs10047634	chr12:89356751 - 89356751(1)	downstream_gene_variant; upstream_gene_variant
rs704080	chr12:89355446 - 89355446(1)	downstream_gene_variant; upstream_gene_variant
rs765646	chr12:89356473 - 89356473(1)	downstream_gene_variant; upstream_gene_variant
rs704074	chr12:89348954 - 89348954(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs796051	chr12:89347087 - 89347087(1)	downstream_gene_variant; upstream_gene_variant
rs796049	chr12:89347661 - 89347661(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs11105262	chr12:89345678 - 89345678(1)	downstream_gene_variant
rs7306360	chr12:89351138 - 89351138(1)	5_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs10744	chr12:89348127 - 89348127(1)	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant
rs11105264	chr12:89355768 - 89355768(1)	downstream_gene_variant; upstream_gene_variant
rs11105263	chr12:89355732 - 89355732(1)	downstream_gene_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 2)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
DUSP6_Leu114Val	point mutation		1 (0/1/0)
DUSP6_exon1_Leu111Val	point mutation	exon1	1 (0/1/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 12	chr12:0-133275309	3 (0/3/0)
12q	chr12:38200000-133851895	1 (1/0/0)
12q21	chr12:71100000-92200000	2 (0/2/0)

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
22155192	No significant association was reported in this study.	Negative
16491131	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.	Negative

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

Reference	ID in SZGene	Result Category
16491131	132	Negative

Gene relationship with MDD

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

Reference	Description	Category in MDD
11032376	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
11035444	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

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

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Region: chr12:89347232..89353271 View in gBrowse