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MAST3

Chr 19p13.11

microtubule associated serine/threonine kinase 3

Aliases:
KIAA0561
MANE:
ENST00000687212.1

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • developmental and epileptic encephalopathy 108

    0.57
  • hereditary disease

    0.38
  • pervasive developmental disorder

    0.34
  • Rare pervasive developmental disorder

    0.34
  • intelligence

    0.26
  • developmental and epileptic encephalopathy

    0.21
  • health study participation

    0.20
  • obesity disorder

    0.20
  • autism spectrum disorder

    0.19
  • attention deficit-hyperactivity disorder

    0.19

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

Protein function (UniProt)

Microtubule-associated serine/threonine-protein kinase 3

Serine/threonine kinase that phosphorylates ARPP19 at 'Ser-62', resulting in protein phosphatase 2A (PP2A) inhibition by ARPP19

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.