Gene Gene information from NCBI Gene database.
Entrez ID 1848
Gene name Dual specificity phosphatase 6
Gene symbol DUSP6
Synonyms (NCBI Gene)
HH19MKP3PYST1
Chromosome 12
Chromosome location 12q21.33
Summary 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
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs139318648 G>A,C Risk-factor Missense variant, intron variant, coding sequence variant
rs143946794 T>C Pathogenic Missense variant, intron variant, coding sequence variant
rs146089505 G>A Risk-factor Missense variant, coding sequence variant
rs587776978 A>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
269
miRTarBase ID miRNA Experiments Reference
MIRT006481 hsa-miR-181a-5p Luciferase reporter assayWestern blot 17382377
MIRT006481 hsa-miR-181a-5p Luciferase reporter assayWestern blot 17382377
MIRT006481 hsa-miR-181a-5p Luciferase reporter assayWestern blot 17382377
MIRT006481 hsa-miR-181a-5p Luciferase reporter assayWestern blot 17382377
MIRT006481 hsa-miR-181a-5p Luciferase reporter assayWestern blot 17382377
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ETS1 Unknown 20097731
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004722 Function Protein serine/threonine phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602748 3072 ENSG00000139318
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16828
Protein 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)
Protein function Dual specificity protein phosphatase, which mediates dephosphorylation and inactivation of MAP kinases (PubMed:8670865). Has a specificity for the ERK family (PubMed:8670865). Plays an important role in alleviating chronic postoperative pain (By
PDB 1HZM , 1MKP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00581 Rhodanese 19 142 Rhodanese-like domain Domain
PF00782 DSPc 214 346 Dual specificity phosphatase, catalytic domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in keratinocytes (at protein level). {ECO:0000269|PubMed:29043977}.
Sequence
Sequence length 381
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
34
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hypogonadotropic hypogonadism 19 with or without anosmia Pathogenic rs1879213059 RCV001335884
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 15824892, 16367914, 21680106, 23419500, 29578153
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21680106, 26301689, 30475204
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 30572643
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 16316942
★☆☆☆☆
Found in Text Mining only
Anterior hypopituitarism Hypopituitarism HPO_DG
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 22797469 Associate
★☆☆☆☆
Found in Text Mining only
Benign Neoplasm Benign Neoplasm BEFREE 22535643
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 11032376, 22155192, 27216486
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 11032376, 17239488, 22155192
★★☆☆☆
Found in Text Mining + Unknown/Other Associations