RNF43
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:612482 Ensembl IDEnsembl:ENSG00000108375 HGNC IDHGNC:HGNC:18505 PHARMGKB IDPA34441 Map Location17q22 | |||||
Gene Categories:
CLINICALLY ACTIONABLEGO terms in RNF43
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IEA | GO:0005635 | nuclear envelope |
| CC | IEA | GO:0005789 | endoplasmic reticulum membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0005887 | integral component of plasma membrane |
| BP | IBA | GO:0006511 | ubiquitin-dependent protein catabolic process |
Gene expression in normal tissue: RNF43
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RNF43
Database | Pathway ID | Pathway Des. |
|---|---|---|
| pid | p73pathway | p73 transcription factor network |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1643685 | Disease |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-201681 | TCF dependent signaling in response to WNT |
| reactome | R-HSA-4641263 | Regulation of FZD by ubiquitination |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RNF43
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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