Gene: UBR5

Alternate names for this Gene: DD5|EDD|EDD1|HYD

Gene Summary: This gene encodes a progestin-induced protein, which belongs to the HECT (homology to E6-AP carboxyl terminus) family. The HECT family proteins function as E3 ubiquitin-protein ligases, targeting specific proteins for ubiquitin-mediated proteolysis. This gene is localized to chromosome 8q22 which is disrupted in a variety of cancers. This gene potentially has a role in regulation of cell proliferation or differentiation.

Gene is located in Chromosome: 8

Location in Chromosome : 8q22.3

Description of this Gene: ubiquitin protein ligase E3 component n-recognin 5

Type of Gene: protein-coding

rs7827839 in UBR5 gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7840202 in UBR5 gene and Impaired cognition PMID 22833209 2011 Genome-wide association study identifies multiple novel loci associated with disease progression in subjects with mild cognitive impairment.

rs10088255 in UBR5 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.