VPS16 (VPS16 core subunit of CORVET and HOPS complexes)

2016-10-01  

Identity

HGNC
VPS16
LOCATION
20p13
LOCUSID
64601
ALIAS
DYT30,hVPS16
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/haematological-explorer/favicon/manifest.json