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RNF43

Chr 17q22

ring finger protein 43

Aliases:
FLJ20315, RNF124, DKFZp781H0392, URCC
MANE:
ENST00000407977.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Inherited polyposis and early onset colorectal cancer - germline testing

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • GI tract tumours

Disease associations (Open Targets)

  • sessile serrated polyposis cancer syndrome

    0.71
  • pancreatic adenocarcinoma

    0.52
  • hyperplastic polyposis syndrome

    0.52
  • prostate carcinoma

    0.50
  • gastric adenocarcinoma

    0.47
  • colorectal adenocarcinoma

    0.46
  • exocrine pancreatic carcinoma

    0.44
  • colon adenocarcinoma

    0.40
  • pancreatic neoplasm

    0.39
  • lung carcinoma

    0.38

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

Protein function (UniProt)

E3 ubiquitin-protein ligase RNF43

E3 ubiquitin-protein ligase that acts as a negative regulator of the Wnt signaling pathway by mediating the ubiquitination, endocytosis and subsequent degradation of Wnt receptor complex components Frizzled. Acts on both canonical and non-canonical Wnt signaling pathway (PubMed:18313049, PubMed:22575959, PubMed:22895187). Along with RSPO2 and ZNRF3, constitutes a master switch that governs limb specification (By similarity)

Curated MONDO disease pages that list RNF43 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.