VPS16 (VPS16 core subunit of CORVET and HOPS complexes)

2016-10-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
DYT30,hVPS16
FUSION GENES

Other Information

Locus ID:

NCBI: 64601
MIM: 608550
HGNC: 14584
Ensembl: ENSG00000215305

Variants:

dbSNP: 64601
ClinVar: 64601
TCGA: ENSG00000215305
COSMIC: VPS16

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000215305ENST00000380445Q9H269
ENSG00000215305ENST00000380469Q9H269
ENSG00000215305ENST00000417508Q5JUB0
ENSG00000215305ENST00000453689Q5JUA9

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
382918452024Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.0
382918452024Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.0
371249332023Bioinformatics Analysis of the Prognostic Significance of VPS16 in Hepatocellular Carcinoma and Its Role in Drug Screening.1
371249332023Bioinformatics Analysis of the Prognostic Significance of VPS16 in Hepatocellular Carcinoma and Its Role in Drug Screening.1
353678322022Overexpression of VPS16 correlates with tumor progression and chemoresistance in colorectal cancer.1
353678322022Overexpression of VPS16 correlates with tumor progression and chemoresistance in colorectal cancer.1
334824382021Mutation screening of VPS16 gene in patients with isolated dystonia.8
335958412021Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients.6
339386192021Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.10
339980582021A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.5
340135672021Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.5
334824382021Mutation screening of VPS16 gene in patients with isolated dystonia.8
335958412021Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients.6
339386192021Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.10
339980582021A 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/css/gene-fusions-explorer/