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CDK19

Chr 6q21

cyclin dependent kinase 19

Aliases:
KIAA1028, bA346C16.3
MANE:
ENST00000368911.8

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, NOT imprinted

Disease associations (Open Targets)

  • developmental and epileptic encephalopathy, 87

    0.79
  • hereditary disease

    0.41
  • undetermined early-onset epileptic encephalopathy

    0.37
  • diabetes mellitus

    0.25
  • alcohol drinking

    0.24
  • urolithiasis

    0.24
  • risk-taking behaviour

    0.23
  • placental abruption

    0.22
  • bronchial disorder

    0.22
  • self-injurious ideation

    0.20

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

Protein function (UniProt)

Cyclin-dependent kinase 19

Component of the Mediator complex, a transcriptional coactivator required for regulated expression of nearly all RNA polymerase II-dependent genes. Acts as a molecular bridge between gene-specific regulatory proteins and the basal RNA polymerase II transcription machinery. Mediator is recruited to promoters through direct interactions with transcriptional regulators and serves as a scaffold for assembly of the pre-initiation complex with RNA polymerase II and general transcription factors. Contributes to phosphorylation of transcription factors and other substrates, including RNA polymerase II and the Notch1 intracellular domain (ICN1), thereby modulating gene expression programs (PubMed:25344755, PubMed:28855340, PubMed:29440396). Plays a role together with CDK8 in normal macrophage differentiation (By similarity)

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.