Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 64601
MIM: 608550
HGNC: 14584
Ensembl: ENSG00000215305
Variants:
dbSNP: 64601
ClinVar: 64601
TCGA: ENSG00000215305
COSMIC: VPS16
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000215305 | ENST00000380445 | Q9H269 |
| ENSG00000215305 | ENST00000380469 | Q9H269 |
| ENSG00000215305 | ENST00000417508 | Q5JUB0 |
| ENSG00000215305 | ENST00000453689 | Q5JUA9 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38291845 | 2024 | Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia. | 0 |
| 38291845 | 2024 | Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia. | 0 |
| 37124933 | 2023 | Bioinformatics Analysis of the Prognostic Significance of VPS16 in Hepatocellular Carcinoma and Its Role in Drug Screening. | 1 |
| 37124933 | 2023 | Bioinformatics Analysis of the Prognostic Significance of VPS16 in Hepatocellular Carcinoma and Its Role in Drug Screening. | 1 |
| 35367832 | 2022 | Overexpression of VPS16 correlates with tumor progression and chemoresistance in colorectal cancer. | 1 |
| 35367832 | 2022 | Overexpression of VPS16 correlates with tumor progression and chemoresistance in colorectal cancer. | 1 |
| 33482438 | 2021 | Mutation screening of VPS16 gene in patients with isolated dystonia. | 8 |
| 33595841 | 2021 | Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients. | 6 |
| 33938619 | 2021 | Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease. | 10 |
| 33998058 | 2021 | A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia. | 5 |
| 34013567 | 2021 | Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings. | 5 |
| 33482438 | 2021 | Mutation screening of VPS16 gene in patients with isolated dystonia. | 8 |
| 33595841 | 2021 | Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients. | 6 |
| 33938619 | 2021 | Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease. | 10 |
| 33998058 | 2021 | A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia. | 5 |
Citation
Dessen P
VPS16 (VPS16 core subunit of CORVET and HOPS complexes)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56300/vps16-(vps16-core-subunit-of-corvet-and-hops-complexes)
