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DYRK1B

Chr 19q13.2

dual specificity tyrosine phosphorylation regulated kinase 1B

Aliases:
MIRK
MANE:
ENST00000323039.10

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Familial diabetes

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Monogenic diabetes

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Severe early-onset obesity

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • metabolic syndrome

    0.70
  • neurodegenerative disease

    0.54
  • lysosomal storage disease

    0.45
  • Alzheimer disease

    0.33
  • Parkinson disease

    0.33
  • multiple sclerosis

    0.33
  • hereditary disease

    0.19
  • myoepithelial tumor

    0.11
  • cancer

    0.10
  • ovarian carcinoma

    0.10

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

Protein function (UniProt)

Dual specificity tyrosine-phosphorylation-regulated kinase 1B

Dual-specificity kinase which possesses both serine/threonine and tyrosine kinase activities. Plays an essential role in ribosomal DNA (rDNA) double-strand break repair and rDNA copy number maintenance (PubMed:33469661). During DNA damage, mediates transcription silencing in part via phosphorylating and enforcing DSB accumulation of the histone methyltransferase EHMT2 (PubMed:32611815). Enhances the transcriptional activity of TCF1/HNF1A and FOXO1. Inhibits epithelial cell migration. Mediates colon carcinoma cell survival in mitogen-poor environments. Inhibits the SHH and WNT1 pathways, thereby enhancing adipogenesis. In addition, promotes expression of the gluconeogenic enzyme glucose-6-phosphatase catalytic subunit 1 (G6PC1)

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.