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CDKN2B

Chr 9p21.3

cyclin dependent kinase inhibitor 2B

Aliases:
P15, MTS2, INK4B, TP15, CDK4I
MANE:
ENST00000276925.7

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
  • Inherited renal cancer

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • neurodegenerative disease

    0.57
  • Alzheimer disease

    0.55
  • open-angle glaucoma

    0.54
  • type 2 diabetes mellitus

    0.51
  • glaucoma

    0.51
  • coronary artery disorder

    0.51
  • glioma

    0.51
  • breast cancer

    0.51
  • Parkinson disease

    0.50
  • basal cell carcinoma

    0.50

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

Protein function (UniProt)

Cyclin-dependent kinase 4 inhibitor B

Interacts strongly with CDK4 and CDK6. Potent inhibitor. Potential effector of TGF-beta induced cell cycle arrest

Curated MONDO disease pages that list CDKN2B 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.