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AXIN2

Chr 17q24.1

axin 2

Aliases:
MGC126582, DKFZp781B0869
MANE:
ENST00000307078.10

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ectodermal dysplasia

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Inherited polyposis and early onset colorectal cancer - germline testing

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Rare syndromic craniosynostosis or isolated multisuture synostosis

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • oligodontia-cancer predisposition syndrome

    0.75
  • colorectal cancer

    0.63
  • AXIN2-related attenuated familial adenomatous polyposis

    0.61
  • Inherited cancer-predisposing syndrome

    0.56
  • hereditary neoplastic syndrome

    0.56
  • Oligodontia - cancer predisposition syndrome

    0.53
  • colon carcinoma

    0.46
  • Oligodontia

    0.45
  • prostate carcinoma

    0.38
  • skin squamous cell carcinoma

    0.38

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

Protein function (UniProt)

Axin-2

Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B

Curated MONDO disease pages that list AXIN2 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.