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
239011042013Structural basis of Vps33A recruitment to the human HOPS complex by Vps16.31
271745652016Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.2

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