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CDKN2C

Chr 1p32.3

cyclin dependent kinase inhibitor 2C

Aliases:
INK4C, p18
MANE:
ENST00000371761.4

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • Familial hyperparathyroidism or hypocalciuric hypercalcaemia

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • neurodegenerative disease

    0.54
  • plasma cell myeloma

    0.38
  • anaplastic oligodendroglioma

    0.37
  • parathyroid gland carcinoma

    0.37
  • brain glioblastoma

    0.37
  • type 2 diabetes mellitus

    0.37
  • cataract

    0.35
  • diabetes mellitus

    0.34
  • glioma

    0.34
  • prostate carcinoma

    0.32

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

Protein function (UniProt)

Cyclin-dependent kinase 4 inhibitor C

Interacts strongly with CDK6, weakly with CDK4. Inhibits cell growth and proliferation with a correlated dependence on endogenous retinoblastoma protein RB

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.