VPS11 (VPS11 core subunit of CORVET and HOPS complexes)

2016-10-01 Affiliation

Identity

HGNC

VPS11

LOCATION

11q23.3

LOCUSID

55823

ALIAS

END1,HLD12,PEP5,RNF108,hVPS11

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: 55823
MIM: 608549
HGNC: 14583
Ensembl: ENSG00000160695

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000160695	ENST00000530809	A0A087X2J4
ENSG00000160695	ENST00000614944	B7Z879
ENSG00000160695	ENST00000620429	Q9H270
ENSG00000160695	ENST00000621676	A0A087WXL6

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
35662671	2022	Overexpression of VPS11 antagonizes the promoting effect of miR-542-3p on Mycobacterium tuberculosis survival in macrophages by regulating autophagy.	1
35662671	2022	Overexpression of VPS11 antagonizes the promoting effect of miR-542-3p on Mycobacterium tuberculosis survival in macrophages by regulating autophagy.	1
33452836	2021	A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.	8
33452836	2021	A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.	8
31015428	2019	Vps11 and Vps18 of Vps-C membrane traffic complexes are E3 ubiquitin ligases and fine-tune signalling.	17
31015428	2019	Vps11 and Vps18 of Vps-C membrane traffic complexes are E3 ubiquitin ligases and fine-tune signalling.	17
27120463	2016	A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.	30
27473128	2016	The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.	15
27120463	2016	A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects.	30
27473128	2016	The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.	15
26307567	2015	Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients.	24
26307567	2015	Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients.	24
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	105

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