Entrez Gene ID | 57617 |
---|---|
Official Gene Symbol | VPS18 (GeneCards) |
Full name | VPS18, CORVET/HOPS core subunit |
Location | 15q15.1 |
Other ids | Vega : OTTHUMG00000130135 MIM : 608551 HGNC : HGNC:15972 Ensembl : ENSG00000104142 |
Other names | PEP3 |
Summary | 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 Vps18 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. [provided by RefSeq, Jul 2008] |
Found 3 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
19055 | 57617 | VPS18 | 15 | 41197689 | 41197689 | Asymptomatic | HiSeq X Ten |
23813 | 57617 | VPS18 | 15 | 41192288 | 41192288 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
29116 | 57617 | VPS18 | 15 | 41192955 | 41192955 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning HiSeq Pyrosequencing |