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CDK4

Chr 12q14.1

cyclin dependent kinase 4

Aliases:
PSK-J3
MANE:
ENST00000257904.11

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult solid tumours cancer susceptibility

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Adult solid tumours for rare disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Familial melanoma

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Melanoma pertinent cancer susceptibility

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Pigmentary skin disorders

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Inherited pancreatic cancer

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Multiple monogenic benign skin tumours

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • melanoma, cutaneous malignant, susceptibility to, 3

    0.70
  • breast carcinoma

    0.63
  • breast cancer

    0.63
  • small cell lung carcinoma

    0.59
  • familial melanoma

    0.58
  • neurodegenerative disease

    0.55
  • Alzheimer disease

    0.54
  • neoplasm

    0.54
  • breast neoplasm

    0.53
  • multiple sclerosis

    0.53

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

Protein function (UniProt)

Cyclin-dependent kinase 4

Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also phosphorylates SMAD3 in a cell-cycle-dependent manner and represses its transcriptional activity. Component of the ternary complex, cyclin D/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex

Curated MONDO disease pages that list CDK4 among their top associated genes.

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.