VPS8 Gene - VPS8 Subunit of CORVET Complex
Genetic and functional insights into VPS8, a core component of the endosomal CORVET tethering complex, with implications in vesicular trafficking and disease.
Gene Information Card
| Symbol | VPS8 |
|---|---|
| Full Name | VPS8 subunit of CORVET complex |
| Gene Type | protein coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 23355 ncbi.nlm.nih.gov/gene/23355 |
| Ensembl ID | ENSG00000150337 |
| UniProt ID | Q8N3P4 |
| OMIM ID | 615905 |
| HGNC ID | 29158 |
| Aliases | KIAA0804, VPS8A |
Description
VPS8 encodes a protein that is a subunit of the CORVET (class C core vacuole/endosome tethering) complex, which is involved in tethering and fusion of endosomal membranes. The protein contains a RING finger domain and is essential for proper endosomal trafficking and sorting. Mutations in VPS8 have been linked to neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with intellectual disability | Biallelic loss-of-function mutations impair CORVET complex function, disrupting endosomal trafficking in neurons. | ClinVar, OMIM |
| Colorectal cancer | Somatic mutations and copy number alterations may affect vesicular trafficking, contributing to tumor progression. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Low |
| Lung | 8.7 | Low |
| Liver | 6.2 | Low |
| Kidney | 9.1 | Low |
| Testis | 15.4 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer cell line |
| A549 | 7.8 | Lung carcinoma |
| HepG2 | 5.9 | Hepatocellular carcinoma |
| K562 | 11.2 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | Rare | Loss of function |
| c.1567G>A (p.Gly523Arg) | Missense | Not established | Potential functional impact |
| c.2101_2102del (p.Leu701fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift) are associated with neurodevelopmental phenotypes.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • zinc ion binding |
| • endosome | • early endosome membrane |
| • intracellular protein transport | • vesicle-mediated transport |
Pathways
• Endosomal transport
• CORVET complex pathway
Protein Summary
VPS8 is a 140 kDa protein that localizes to early endosomes and is part of the CORVET complex, which mediates tethering of endosomal membranes during fusion. It contains a RING finger domain and interacts with other CORVET subunits. The protein is essential for endosomal maturation and sorting of cargo.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VPS8 Knockout HEK293 Cell Line | EDJ-KQ7985 | Human | 23355 | Details Get a Quote |
| VPS8 Knockout HCT 116 Cell Line | EDJ-KQ32368 | Human | 23355 | Details Get a Quote |
| VPS8 Knockout A-549 Cell Line | EDJ-KQ33702 | Human | 23355 | Details Get a Quote |
| VPS8 Knockout HeLa Cell Line | EDJ-KQ33704 | Human | 23355 | Details Get a Quote |
