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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DUSP6
dual specificity phosphatase 6
Chromosome 12 · 12q21.33
NCBI Gene: 1848Ensembl: ENSG00000139318.9HGNC: HGNC:3072UniProt: Q16828
138PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
peptidyl-tyrosine dephosphorylationnegative regulation of MAPK cascaderesponse to nitrosative stresscytoplasmKallmann syndromeattention deficit hyperactivity disorderAbnormality of the skeletal systemhair color
✦AI Summary

DUSP6 (dual specificity phosphatase 6) is a protein phosphatase that primarily functions to negatively regulate MAPK signaling by dephosphorylating and inactivating ERK1/2 kinases 1. The protein exhibits dual specificity, targeting both tyrosine and serine/threonine residues on its substrates. DUSP6 plays critical roles in cellular signaling regulation, particularly in the ERK pathway, where its downregulation leads to increased ERK signaling and altered cellular excitability 1. In cancer contexts, DUSP6 functions as both a tumor suppressor and potential therapeutic target, with dual inactivation of DUSP4 and DUSP6 creating vulnerabilities in MAPK pathway-driven cancers 2. The gene also drives leukemic progression and mediates resistance to JAK2 inhibition through the DUSP6-RSK1 axis 3. In neurological contexts, DUSP6 inhibition can enhance and extend ketamine's antidepressant effects by augmenting synaptic plasticity through sustained ERK activity 4. Disease associations include congenital hypogonadotropic hypogonadism, where DUSP6 mutations contribute to oligogenic inheritance patterns 5. DUSP6 also regulates tumor microenvironment interactions, including macrophage polarization in colon cancer 6, highlighting its importance in both cancer biology and therapeutic interventions.

Sources cited
1
DUSP6 negatively regulates MAPK/ERK signaling and shows sex-specific roles in depression
PMID: 28825715
2
DUSP6 drives leukemic progression and mediates JAK2 inhibitor resistance through the DUSP6-RSK1 axis
PMID: 36581736
3
Dual inactivation of DUSP4 and DUSP6 creates vulnerability in MAPK pathway-driven cancers
PMID: 34857952
4
DUSP6 inhibition extends ketamine's antidepressant effects by enhancing ERK-mediated synaptic plasticity
PMID: 40339008
5
DUSP6 mutations are associated with congenital hypogonadotropic hypogonadism in oligogenic inheritance patterns
PMID: 23643382
6
DUSP6 regulates tumor-associated macrophage polarization through ERK1/2 pathway in colon cancer
PMID: 29368606
Disease Associationsⓘ21
Kallmann syndromeOpen Targets
0.71Strong
attention deficit hyperactivity disorderOpen Targets
0.50Moderate
Abnormality of the skeletal systemOpen Targets
0.49Moderate
hair colorOpen Targets
0.47Moderate
mathematical abilityOpen Targets
0.45Moderate
Hernia of the abdominal wallOpen Targets
0.43Moderate
hypogonadotropic hypogonadismOpen Targets
0.42Moderate
smoking initiationOpen Targets
0.41Moderate
HerniaOpen Targets
0.39Weak
chronic obstructive pulmonary diseaseOpen Targets
0.39Weak
risk-taking behaviourOpen Targets
0.32Weak
substance-related disorderOpen Targets
0.32Weak
autism spectrum disorderOpen Targets
0.32Weak
heart failureOpen Targets
0.32Weak
atrial fibrillationOpen Targets
0.32Weak
Cannabis useOpen Targets
0.31Weak
insomniaOpen Targets
0.31Weak
substance abuseOpen Targets
0.30Weak
intelligenceOpen Targets
0.30Weak
coronary artery diseaseOpen Targets
0.29Weak
Hypogonadotropic hypogonadism 19 with or without anosmiaUniProt
Pathogenic Variants1
NM_001946.4(DUSP6):c.117C>A (p.Cys39Ter)Pathogenic
Hypogonadotropic hypogonadism 19 with or without anosmia
★☆☆☆2018→ Residue 39
View on ClinVar ↗
Related Genes
MAPK1Protein interaction100%MAPK3Protein interaction99%FOSProtein interaction99%EGR1Protein interaction95%SPRY2Protein interaction83%SPRY4Protein interaction75%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
20%
Lung
17%
Heart
13%
Brain
4%
Ovary
3%
Gene Interaction Network
Click a node to explore
DUSP6MAPK1MAPK3FOSEGR1SPRY2SPRY4
PROTEIN STRUCTURE
Preparing viewer…
PDB1MKP · 2.35 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.45Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.23 [0.12–0.45]
RankingsWhere DUSP6 stands among ~20K protein-coding genes
  • #3,335of 20,598
    Most Researched138 · top quartile
  • #4,792of 5,498
    Most Pathogenic Variants1
  • #2,511of 17,882
    Most Constrained (LOEUF)0.45 · top quartile
Genes detectedDUSP6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Sex-specific transcriptional signatures in human depression.
PMID: 28825715
Nat Med · 2017
1.00
2
DUSP6 mediates resistance to JAK2 inhibition and drives leukemic progression.
PMID: 36581736
Nat Cancer · 2023
0.90
3
Paralog knockout profiling identifies DUSP4 and DUSP6 as a digenic dependence in MAPK pathway-driven cancers.
PMID: 34857952
Nat Genet · 2021
0.80
4
Enhanced ERK activity extends ketamine's antidepressant effects by augmenting synaptic plasticity.
PMID: 40339008
Science · 2025
0.70
5
Construction and validation of a cuproptosis-related prognostic model for glioblastoma.
PMID: 36814929
Front Immunol · 2023
0.60