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CDKN1B

Chr 12p13.1

cyclin dependent kinase inhibitor 1B

Aliases:
KIP1, P27KIP1
MANE:
ENST00000228872.9

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, NOT imprinted
  • Adult solid tumours for rare disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Endocrine neoplasia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Familial hyperparathyroidism or hypocalciuric hypercalcaemia

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Multiple endocrine tumours

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Neuroendocrine cancer pertinent cancer susceptibility

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Thyroid cancer pertinent cancer susceptibility

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • COVID-19 research

    Unknown

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Disease associations (Open Targets)

  • multiple endocrine neoplasia type 4

    0.79
  • prostate carcinoma

    0.56
  • Inherited cancer-predisposing syndrome

    0.55
  • hereditary neoplastic syndrome

    0.55
  • thyroid gland carcinoma

    0.55
  • neurodegenerative disease

    0.54
  • pituitary gland adenoma

    0.51
  • thyroid cancer

    0.51
  • type 2 diabetes mellitus

    0.50
  • prostate adenocarcinoma

    0.46

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

Protein function (UniProt)

Cyclin-dependent kinase inhibitor 1B

Important regulator of cell cycle progression. Inhibits the kinase activity of CDK2 bound to cyclin A, but has little inhibitory activity on CDK2 bound to SPDYA (PubMed:28666995). Involved in G1 arrest. Potent inhibitor of cyclin E- and cyclin A-CDK2 complexes. Forms a complex with cyclin type D-CDK4 complexes and is involved in the assembly, stability, and modulation of CCND1-CDK4 complex activation. Acts either as an inhibitor or an activator of cyclin type D-CDK4 complexes depending on its phosphorylation state and/or stoichiometry

Curated MONDO disease pages that list CDKN1B 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.