RNF43 Chromosome 17
Ring finger protein 43
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What This Gene Does
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]
Gene Info
Gene Group
Ring finger proteins
Locus Type
gene with protein product
Location
17q22
Ensembl
ENSG00000108375
Associated Conditions (9)
Sessile serrated polyposis cancer syndrome
RNF43-related disorder
Hyperplastic polyposis syndrome
Hereditary cancer
Neoplasm
Hereditary cancer-predisposing syndrome
Inherited polyposis and early onset colorectal cancer - germline testing
Colorectal cancer
Colon serrated polyposis
Key Variants
RS1025275269
Conflicting classifications of pathogenicity
Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
Health Risk
RS111856468
Conflicting classifications of pathogenicity
Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
Health Risk
RS1348340748
Conflicting classifications of pathogenicity
Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
Health Risk
RS138844366
Conflicting classifications of pathogenicity
RNF43-related disorder, Hyperplastic polyposis syndrome, RNF43-related disorder
Health Risk
RS139405076
Conflicting classifications of pathogenicity
Hyperplastic polyposis syndrome, Hyperplastic polyposis syndrome
Health Risk
RS139557480
Conflicting classifications of pathogenicity
Hereditary cancer, RNF43-related disorder, Hyperplastic polyposis syndrome
Health Risk
RS140873038
Conflicting classifications of pathogenicity
Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
Health Risk
RS142864107
Conflicting classifications of pathogenicity
Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
Health Risk
RS1436857798
Conflicting classifications of pathogenicity
Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
Health Risk
RS1442406191
Conflicting classifications of pathogenicity
Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
Health Risk
RS1458799446
Conflicting classifications of pathogenicity
Neoplasm, Sessile serrated polyposis cancer syndrome, Neoplasm
Health Risk
RS148619997
Conflicting classifications of pathogenicity
Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
Health Risk
All Variants (83)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754869199 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755996999 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS757680292 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758316406 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758649188 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758746256 | Health Risk | Conflicting classifications of pathogenicity | Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome |
| RS759290047 | Health Risk | Conflicting classifications of pathogenicity | Hyperplastic polyposis syndrome, Hyperplastic polyposis syndrome |
| RS759509150 | Health Risk | Conflicting classifications of pathogenicity | Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome |
| RS760556127 | Health Risk | Conflicting classifications of pathogenicity | Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome |
| RS761926947 | Health Risk | Conflicting classifications of pathogenicity | Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome |
| RS763974538 | Health Risk | Conflicting classifications of pathogenicity | Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome |
| RS765548407 | Health Risk | Conflicting classifications of pathogenicity | Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome |
| RS766439784 | Health Risk | Conflicting classifications of pathogenicity | Sessile serrated polyposis cancer syndrome, Hyperplastic polyposis syndrome, Sessile serrated polyposis cancer syndrome |
| RS767663775 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS769970658 | Health Risk | Conflicting classifications of pathogenicity | Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome |
| RS771597876 | Health Risk | Conflicting classifications of pathogenicity | Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome |
| RS771831816 | Health Risk | Conflicting classifications of pathogenicity | Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome |
| RS772096609 | Health Risk | Conflicting classifications of pathogenicity | Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome |
| RS775028128 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777057577 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777471441 | Health Risk | Conflicting classifications of pathogenicity | Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome |
| RS780893183 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS868456972 | Health Risk | Conflicting classifications of pathogenicity | Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome |
| RS911308708 | Health Risk | Conflicting classifications of pathogenicity | Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome |
| RS929720505 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS995358248 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1170091784 | Health Risk | Likely pathogenic | — |
| RS2143383024 | Health Risk | Likely pathogenic | Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome |
| RS2143409098 | Health Risk | Likely pathogenic | Sessile serrated polyposis cancer syndrome, Neoplasm, Sessile serrated polyposis cancer syndrome |
| RS755128667 | Health Risk | Likely pathogenic | Sessile serrated polyposis cancer syndrome, RNF43-related disorder, Inherited polyposis and early onset colorectal cancer - germline testing |
| RS2509339083 | Health Risk | Pathogenic | Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome |
| RS2509387175 | Health Risk | Pathogenic | — |
| RS786205215 | Health Risk | Pathogenic | Colon serrated polyposis, Sessile serrated polyposis cancer syndrome, Colon serrated polyposis |