VPS11 (VPS11 core subunit of CORVET and HOPS complexes)

2016-10-01  

Identity

HGNC
LOCATION
11q23.3
LOCUSID
ALIAS
END1,HLD12,PEP5,RNF108,hVPS11

Other Information

Locus ID:

NCBI: 55823
MIM: 608549
HGNC: 14583
Ensembl: ENSG00000160695

Variants:

dbSNP: 55823
ClinVar: 55823
TCGA: ENSG00000160695
COSMIC: VPS11

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160695ENST00000530809A0A087X2J4
ENSG00000160695ENST00000614944B7Z879
ENSG00000160695ENST00000620429Q9H270
ENSG00000160695ENST00000621676A0A087WXL6

Expression (GTEx)

0
10
20
30
40
50
60
70

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
271204632016A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.10
263075672015Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients.9
274731282016The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.6
310154282019Vps11 and Vps18 of Vps-C membrane traffic complexes are E3 ubiquitin ligases and fine-tune signalling.0

Citation

Dessen P

VPS11 (VPS11 core subunit of CORVET and HOPS complexes)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56052/vps11