VPS16 Chromosome 20
VPS16 core subunit of CORVET and HOPS complexes
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What This Gene Does
Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
Gene Info
Gene Group
"HOPS complex|CORVET complex"
Locus Type
gene with protein product
Location
20p13
Ensembl
ENSG00000215305
Associated Conditions (4)
VPS16-related disorder
Dystonia 30
See cases
VPS16-associated disorder
Key Variants
RS374914263
Conflicting classifications of pathogenicity
VPS16-related disorder, VPS16-related disorder
Health Risk
RS754351705
Conflicting classifications of pathogenicity
Dystonia 30, Dystonia 30
Health Risk
RS2089253964
Likely pathogenic
VPS16-related disorder, Dystonia 30, VPS16-related disorder
Health Risk
RS2146673211
Likely pathogenic
Dystonia 30, Dystonia 30
Health Risk
RS2515114359
Likely pathogenic
Dystonia 30, Dystonia 30
Health Risk
RS2515137975
Likely pathogenic
Dystonia 30, Dystonia 30
Health Risk
RS770913562
Likely pathogenic
See cases, See cases
Health Risk
RS1422519039
Pathogenic
Dystonia 30, Dystonia 30
Health Risk
RS1600004624
Pathogenic
Dystonia 30, Dystonia 30
Health Risk
RS2089222709
Pathogenic
Health Risk
RS2146664989
Pathogenic
Dystonia 30, Dystonia 30
Health Risk
RS2146669693
Pathogenic
Dystonia 30, Dystonia 30
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS374914263 | Health Risk | Conflicting classifications of pathogenicity | VPS16-related disorder, VPS16-related disorder |
| RS754351705 | Health Risk | Conflicting classifications of pathogenicity | Dystonia 30, Dystonia 30 |
| RS2089253964 | Health Risk | Likely pathogenic | VPS16-related disorder, Dystonia 30, VPS16-related disorder |
| RS2146673211 | Health Risk | Likely pathogenic | Dystonia 30, Dystonia 30 |
| RS2515114359 | Health Risk | Likely pathogenic | Dystonia 30, Dystonia 30 |
| RS2515137975 | Health Risk | Likely pathogenic | Dystonia 30, Dystonia 30 |
| RS770913562 | Health Risk | Likely pathogenic | See cases, See cases |
| RS1422519039 | Health Risk | Pathogenic | Dystonia 30, Dystonia 30 |
| RS1600004624 | Health Risk | Pathogenic | Dystonia 30, Dystonia 30 |
| RS2089222709 | Health Risk | Pathogenic | — |
| RS2146664989 | Health Risk | Pathogenic | Dystonia 30, Dystonia 30 |
| RS2146669693 | Health Risk | Pathogenic | Dystonia 30, Dystonia 30 |
| RS367642720 | Health Risk | Pathogenic | Dystonia 30, Dystonia 30 |
| RS374769660 | Health Risk | Pathogenic | VPS16-associated disorder, Dystonia 30, VPS16-associated disorder |