Skip to content
GenoLensGenoLens

CCNK

Chr 14q32.2

cyclin K

Aliases:
CPR4
MANE:
ENST00000389879.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • HIV infectious disease

    0.56
  • intellectual developmental disorder with hypertelorism and distinctive facies

    0.54
  • neurodegenerative disease

    0.43
  • cancer

    0.08
  • lung cancer

    0.08
  • lung carcinoma

    0.08
  • breast carcinoma

    0.08
  • breast cancer

    0.08
  • neoplasm

    0.06
  • endometrial cancer

    0.05

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

Protein function (UniProt)

Cyclin-K

Regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases. Plays a role in transcriptional regulation via its role in regulating the phosphorylation of the C-terminal domain (CTD) of the large subunit of RNA polymerase II (POLR2A)

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.