Gene: UBASH3B

Alternate names for this Gene: STS-1|STS1|TULA-2|TULA2|p70

Gene Summary: This gene encodes a protein that contains a ubiquitin associated domain at the N-terminus, an SH3 domain, and a C-terminal domain with similarities to the catalytic motif of phosphoglycerate mutase. The encoded protein was found to inhibit endocytosis of epidermal growth factor receptor (EGFR) and platelet-derived growth factor receptor.

Gene is located in Chromosome: 11

Location in Chromosome : 11q24.1

Description of this Gene: ubiquitin associated and SH3 domain containing B

Type of Gene: protein-coding

rs7936300 in UBASH3B gene and Blood urea nitrogen measurement PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs10892873 in UBASH3B gene and Body mass index PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7129204 in UBASH3B gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10790519 in UBASH3B gene and High density lipoprotein measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

rs1945397 in UBASH3B gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7117842 in UBASH3B gene and Serum total cholesterol measurement PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

rs1106243 in UBASH3B gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.