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DUSP6

Chr 12q21.33

dual specificity phosphatase 6

Aliases:
MKP-3, PYST1
MANE:
ENST00000279488.8
OMIM: 602748 ↗NCBI: 1848 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Hypogonadotropic hypogonadism (GMS)

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Fetal anomalies

    Unknown

  • Hypogonadotropic hypogonadism

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Kallmann syndrome

    0.71

  • attention deficit-hyperactivity disorder

    0.48

  • Abnormality of the skeletal system

    0.48

  • mathematical ability

    0.42

  • Hernia of the abdominal wall

    0.42

  • hypogonadotropic hypogonadism

    0.42

  • hair color

    0.42

  • smoking initiation

    0.39

  • Hernia

    0.38

  • chronic obstructive pulmonary disease

    0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dual specificity protein phosphatase 6

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 similarity). Necessary for the normal dephosphorylation of the long-lasting phosphorylated forms of spinal MAPK1/3 and MAP kinase p38 induced by peripheral surgery, which drives the resolution of acute postoperative allodynia (By similarity). Also important for dephosphorylation of MAPK1/3 in local wound tissue, which further contributes to resolution of acute pain (By similarity). Promotes cell differentiation by regulating MAPK1/MAPK3 activity and regulating the expression of AP1 transcription factors (PubMed:29043977)

Diseases associated with DUSP6

Curated MONDO disease pages that list DUSP6 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.