• Gene id: 1848

Gene Summary

• Gene Symbol: DUSP6   Gene   UCSC   Ensembl
• Aliases: HH19, MKP3, PYST1
• Gene name: dual specificity phosphatase 6
• Alternate names: dual specificity protein phosphatase 6, MAP kinase phosphatase 3, dual specificity protein phosphatase PYST1, mitogen-activated protein kinase phosphatase 3, serine/threonine specific protein phosphatase,
• Gene location: 12q21.33 (89352858: 89347824)     Exons: 3     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. They negatively regu
• OMIM: 602748

SNPs

rs6897876

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.142308074T>C
NC_000005.10   g.142308074T>G
NC_000005.9   g.141687639T>C
NC_000005.9   g.141687639T>G|SEQ=[T/C/G]

Protein Summary

• Protein general information: Q16828  
  • Name: Dual specificity protein phosphatase 6 (EC 3.1.3.16) (EC 3.1.3.48) (Dual specificity protein phosphatase PYST1) (Mitogen activated protein kinase phosphatase 3) (MAP kinase phosphatase 3) (MKP 3)
  • Length: 381  
  • Mass: 42,320
• Sequence:

  MIDTLRPVPFASEMAISKTVAWLNEQLELGNERLLLMDCRPQELYESSHIESAINVAIPGIMLRRLQKGNLPVRA
  LFTRGEDRDRFTRRCGTDTVVLYDESSSDWNENTGGESVLGLLLKKLKDEGCRAFYLEGGFSKFQAEFSLHCETN
  LDGSCSSSSPPLPVLGLGGLRISSDSSSDIESDLDRDPNSATDSDGSPLSNSQPSFPVEILPFLYLGCAKDSTNL
  DVLEEFGIKYILNVTPNLPNLFENAGEFKYKQIPISDHWSQNLSQFFPEAISFIDEARGKNCGVLVHCLAGISRS
  VTVTVAYLMQKLNLSMNDAYDIVKMKKSNISPNFNFMGQLLDFERTLGLSSPCDNRVPAQQLYFTTPSNQNVYQV
  DSLQST

• Structural information:
  • Protein Domains: Rhodanese. (30-148)
    Tyrosine-protein (206-381)
  • Interpro: IPR000340  IPR024950  IPR008343  IPR029021  IPR001763   IPR036873  IPR000387  IPR020422  
  • Prosite: PS50206 PS50056 PS50054
  • CDD: cd00127
  • PDB: 1HZM 1MKP
  • PDBsum: 1HZM 1MKP
  • STRING: ENSP00000279488
• Other Databases: GeneCards:  DUSP6  Malacards:  DUSP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000165	MAPK cascade	TAS	biological process
GO:0000187	activation of MAPK activity	TAS	biological process
GO:0000188	inactivation of MAPK activity	IDA	biological process
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0008138	protein tyrosine/serine/threonine phosphatase activity	TAS	molecular function
GO:0009953	dorsal/ventral pattern formation	IBA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0017017	MAP kinase tyrosine/serine/threonine phosphatase activity	IDA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IDA	biological process
GO:0040036	regulation of fibroblast growth factor receptor signaling pathway	IBA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042663	regulation of endodermal cell fate specification	IBA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0051409	response to nitrosative stress	IEP	biological process
GO:0060420	regulation of heart growth	IBA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0070848	response to growth factor	IEA	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0000187	activation of MAPK activity	TAS	biological process
GO:0000188	inactivation of MAPK activity	IDA	biological process
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0008138	protein tyrosine/serine/threonine phosphatase activity	IEA	molecular function
GO:0008138	protein tyrosine/serine/threonine phosphatase activity	IEA	molecular function
GO:0008138	protein tyrosine/serine/threonine phosphatase activity	TAS	molecular function
GO:0009953	dorsal/ventral pattern formation	IBA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0010942	positive regulation of cell death	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016791	phosphatase activity	IEA	molecular function
GO:0017017	MAP kinase tyrosine/serine/threonine phosphatase activity	IEA	molecular function
GO:0017017	MAP kinase tyrosine/serine/threonine phosphatase activity	IDA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IDA	biological process
GO:0040036	regulation of fibroblast growth factor receptor signaling pathway	IBA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042663	regulation of endodermal cell fate specification	IBA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0051409	response to nitrosative stress	IEP	biological process
GO:0060420	regulation of heart growth	IEA	biological process
GO:0060420	regulation of heart growth	IBA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0070848	response to growth factor	IEA	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0000187	activation of MAPK activity	TAS	biological process
GO:0000188	inactivation of MAPK activity	IDA	biological process
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0008138	protein tyrosine/serine/threonine phosphatase activity	TAS	molecular function
GO:0009953	dorsal/ventral pattern formation	IBA	biological process
GO:0017017	MAP kinase tyrosine/serine/threonine phosphatase activity	IDA	molecular function
GO:0035335	peptidyl-tyrosine dephosphorylation	IDA	biological process
GO:0040036	regulation of fibroblast growth factor receptor signaling pathway	IBA	biological process
GO:0042663	regulation of endodermal cell fate specification	IBA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0051409	response to nitrosative stress	IEP	biological process
GO:0060420	regulation of heart growth	IBA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer
hsa05221	Acute myeloid leukemia

Diseases

Associated diseases	References
Atrial fibrillation	GAD: 17903304
Affective disorder	GAD: 11032376
Bipolar disorder	GAD: 19328558
Chronic renal failure	GAD: 21085059
Congenital hypogonadotropic hypogonadism (CHH)	MIK: 23643382
Kallmann syndrome (KS)	INFBASE: 23643382
Hypogonadotropic hypogonadism	OMIM: 602748
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Congenital hypogonadotropic hypogonadism (CHH)	MIK: 23643382
Kallmann syndrome (KS)	MIK: 23643382
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23643382	Congenital hypogonadotropic hypogonadism (CHH), Kallmann syndrome (KS)			541 (386 unrelated CHH individuals, 155 controls)	Male infertility	FGF17 IL17RD DUSP6 SPRY4 and FLRT3
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881