Skip to content
GenoLensGenoLens

APC

Chr 5q22.2

APC regulator of Wnt signaling pathway

Aliases:
DP2, DP3, DP2.5, PPP1R46
MANE:
ENST00000257430.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Additional findings health related

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Additional findings health related - children

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Additional findings health related - CNV analysis children

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • 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
  • APC associated Polyposis

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

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Childhood solid tumours

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

+8 more panels — install the extension to see the full list inline on any page.

Disease associations (Open Targets)

  • familial adenomatous polyposis 1

    0.85
  • Familial adenomatous polyposis

    0.78
  • gastric adenocarcinoma and proximal polyposis of the stomach

    0.76
  • classic familial adenomatous polyposis

    0.75
  • colon carcinoma

    0.73
  • colorectal adenocarcinoma

    0.73
  • colorectal cancer

    0.72
  • colonic neoplasm

    0.72
  • hepatocellular carcinoma

    0.71
  • desmoid tumor

    0.70

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

Protein function (UniProt)

Adenomatous polyposis coli protein

Tumor suppressor. Promotes rapid degradation of CTNNB1 and participates in Wnt signaling as a negative regulator. APC activity is correlated with its phosphorylation state. Activates the GEF activity of SPATA13 and ARHGEF4. Plays a role in hepatocyte growth factor (HGF)-induced cell migration. Required for MMP9 up-regulation via the JNK signaling pathway in colorectal tumor cells. Associates with both microtubules and actin filaments, components of the cytoskeleton (PubMed:17293347). Plays a role in mediating the organization of F-actin into ordered bundles (PubMed:17293347). Functions downstream of Rho GTPases and DIAPH1 to selectively stabilize microtubules (By similarity). Acts as a mediator of ERBB2-dependent stabilization of microtubules at the cell cortex. It is required for the localization of MACF1 to the cell membrane and this localization of MACF1 is critical for its function in microtubule stabilization

Curated MONDO disease pages that list APC 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.