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MAP3K3

Chr 17q23.3

mitogen-activated protein kinase kinase kinase 3

Aliases:
MAPKKK3
MANE:
ENST00000361733.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Mosaic skin disorders - deep sequencing

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • verrucous hemangioma

    0.38
  • neurodegenerative disease

    0.37
  • cerebral cavernous malformations 5

    0.17
  • Abnormality of the skeletal system

    0.13
  • neoplasm

    0.09
  • cerebral cavernous malformation

    0.09
  • lung carcinoma

    0.08
  • lung cancer

    0.08
  • esophageal squamous cell carcinoma

    0.07
  • posterior cortical atrophy

    0.07

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

Protein function (UniProt)

Mitogen-activated protein kinase kinase kinase 3

Component of a protein kinase signal transduction cascade. Mediates activation of the NF-kappa-B, AP1 and DDIT3 transcriptional regulators

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.