RNF43 Chromosome 17

Ring finger protein 43

83 variants 83 Health Risk

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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

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
RS1025275269	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS111856468	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1348340748	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS138844366	Health Risk	Conflicting classifications of pathogenicity	RNF43-related disorder, Hyperplastic polyposis syndrome, RNF43-related disorder
RS139405076	Health Risk	Conflicting classifications of pathogenicity	Hyperplastic polyposis syndrome, Hyperplastic polyposis syndrome
RS139557480	Health Risk	Conflicting classifications of pathogenicity	Hereditary cancer, RNF43-related disorder, Hyperplastic polyposis syndrome
RS140873038	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS142864107	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1436857798	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1442406191	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1458799446	Health Risk	Conflicting classifications of pathogenicity	Neoplasm, Sessile serrated polyposis cancer syndrome, Neoplasm
RS148619997	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS149183435	Health Risk	Conflicting classifications of pathogenicity	—
RS151209912	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1567875446	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1567880628	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS184604359	Health Risk	Conflicting classifications of pathogenicity	—
RS190547268	Health Risk	Conflicting classifications of pathogenicity	—
RS1972742412	Health Risk	Conflicting classifications of pathogenicity	—
RS1972767451	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1972861647	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1974104143	Health Risk	Conflicting classifications of pathogenicity	—
RS199831923	Health Risk	Conflicting classifications of pathogenicity	RNF43-related disorder, Hyperplastic polyposis syndrome, RNF43-related disorder
RS199909371	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, RNF43-related disorder, Sessile serrated polyposis cancer syndrome
RS199916345	Health Risk	Conflicting classifications of pathogenicity	RNF43-related disorder, Hyperplastic polyposis syndrome, RNF43-related disorder
RS200066146	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS200166143	Health Risk	Conflicting classifications of pathogenicity	—
RS200423723	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Hyperplastic polyposis syndrome, Sessile serrated polyposis cancer syndrome
RS201204271	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Hyperplastic polyposis syndrome, Sessile serrated polyposis cancer syndrome
RS201262484	Health Risk	Conflicting classifications of pathogenicity	Hyperplastic polyposis syndrome, Hyperplastic polyposis syndrome
RS201364571	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS201914846	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS2509343002	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS2509359618	Health Risk	Conflicting classifications of pathogenicity	—
RS2509366238	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS34464652	Health Risk	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome, Sessile serrated polyposis cancer syndrome, Hereditary cancer-predisposing syndrome
RS35219874	Health Risk	Conflicting classifications of pathogenicity	RNF43-related disorder, Hyperplastic polyposis syndrome, Hereditary cancer-predisposing syndrome
RS367688879	Health Risk	Conflicting classifications of pathogenicity	Hyperplastic polyposis syndrome, Hyperplastic polyposis syndrome
RS370703233	Health Risk	Conflicting classifications of pathogenicity	—
RS371553160	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS372129321	Health Risk	Conflicting classifications of pathogenicity	Hyperplastic polyposis syndrome, Hyperplastic polyposis syndrome
RS374485752	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS375113334	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS375205991	Health Risk	Conflicting classifications of pathogenicity	—
RS376002987	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS553934414	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Hyperplastic polyposis syndrome, Sessile serrated polyposis cancer syndrome
RS746854614	Health Risk	Conflicting classifications of pathogenicity	—
RS747371137	Health Risk	Conflicting classifications of pathogenicity	—
RS748813654	Health Risk	Conflicting classifications of pathogenicity	Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS750610377	Health Risk	Conflicting classifications of pathogenicity	—

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