Aliases for RNF43 Gene
External Ids for RNF43 Gene
Previous GeneCards Identifiers for RNF43 Gene
The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This protein is thought to negatively regulate Wnt signaling, and expression of this gene results in an increase in ubiquitination of frizzled receptors, an alteration in their subcellular distribution, resulting in reduced surface levels of these receptors. Mutations in this gene have been reported in multiple tumor cells, including colorectal and endometrial cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]
GeneCards Summary for RNF43 Gene
RNF43 (Ring Finger Protein 43) is a Protein Coding gene. Diseases associated with RNF43 include Sessile Serrated Polyposis Cancer Syndrome and Hyperplastic Polyposis Syndrome. Among its related pathways are Signaling by GPCR and S45 mutants of beta-catenin arent phosphorylated. Gene Ontology (GO) annotations related to this gene include ligase activity and obsolete signal transducer activity. An important paralog of this gene is ENSG00000285897.
UniProtKB/Swiss-Prot Summary for RNF43 Gene
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).