Gene: USP40

Alternate names for this Gene: -

Gene Summary: Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]. CCDS Note: The coding region has been updated to shorten the N-terminus to one that is more supported by conservation.

Gene is located in Chromosome: 2

Location in Chromosome : 2q37.1

Description of this Gene: ubiquitin specific peptidase 40

Type of Gene: protein-coding

rs10929178 in USP40 gene and Bilirubin level result PMID 19414484 2009 Genome-wide association meta-analysis for total serum bilirubin levels.

PMID 21646302 2011 Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.

rs10929178 in USP40 gene and Bilirubin measurement PMID 19414484 2009 Genome-wide association meta-analysis for total serum bilirubin levels.

PMID 21646302 2011 Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.

rs1545524 in USP40 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.