Gene: RNF43

Alternate names for this Gene: RNF124|SSPCS|URCC

Gene 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.

Gene is located in Chromosome: 17

Location in Chromosome : 17q22

Description of this Gene: ring finger protein 43

Type of Gene: protein-coding

Gene: TSPOAP1-AS1

Alternate names for this Gene: BZRAP1-AS1

Gene Summary:

Gene is located in Chromosome: 17

Location in Chromosome : 17q22

Description of this Gene: TSPOAP1, SUPT4H1 and RNF43 antisense RNA 1

Type of Gene: ncRNA

rs2680707 in RNF43;TSPOAP1-AS1 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs34523089 in RNF43;TSPOAP1-AS1 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs34523089 in RNF43;TSPOAP1-AS1 gene and Mean Corpuscular Volume (result) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.