Gene: VPS53

Alternate names for this Gene: HCCS1|PCH2E|hVps53L|pp13624

Gene Summary: This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.3

Description of this Gene: VPS53 subunit of GARP complex

Type of Gene: protein-coding

rs79257300 in VPS53 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12938449 in VPS53 gene and High density lipoprotein measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs684232 in VPS53 gene and Malignant neoplasm of prostate PMID 23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.

rs200594402 in VPS53 gene and PONTOCEREBELLAR HYPOPLASIA, TYPE 2E PMID 28567303 2016 Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

PMID 24577744 2014 VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2).

rs741677 in VPS53 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs684232 in VPS53 gene and Prostate carcinoma PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

PMID 23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.