CHMP6: Charged Multivesicular Body Protein 6
A core component of the ESCRT-III complex involved in membrane fission and cargo sorting.
Gene Information Card
| Symbol | CHMP6 |
|---|---|
| Full Name | Charged Multivesicular Body Protein 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.3 |
| NCBI Gene ID | 79643 ncbi.nlm.nih.gov/gene/79643 |
| Ensembl ID | ENSG00000108349 |
| UniProt ID | Q96FZ7 |
| OMIM ID | 610901 |
| HGNC ID | 25675 |
| Aliases | VPS20, CGI-34, CHMP6-201 |
Description
CHMP6 (Charged Multivesicular Body Protein 6) is a protein-coding gene that encodes a core component of the ESCRT-III complex. This complex is essential for multivesicular body (MVB) biogenesis, membrane fission, and sorting of ubiquitinated cargo proteins into intraluminal vesicles. CHMP6 functions as a nucleation factor for ESCRT-III assembly at endosomal membranes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disorders (e.g., ALS, frontotemporal dementia) | Dysregulation of ESCRT-III function may impair autophagic clearance and protein aggregation | PMID: 25684226 |
| Cancer (e.g., breast, colorectal) | Altered CHMP6 expression affects cell proliferation and endosomal trafficking | PMID: 29162697 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.0 | High expression |
| HeLa | 11.5 | Moderate expression |
| HepG2 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | <0.01% | Unknown functional impact |
| c.412C>T (p.Arg138Trp) | Missense | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the core domain may disrupt ESCRT-III assembly and membrane fission.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • endosome (GO:0005768) | • cytosol (GO:0005829) |
| • protein transport (GO:0015031) | • multivesicular body assembly (GO:0036257) |
| • late endosome to vacuole transport (GO:0045324) |
Pathways
• ESCRT-III complex (Reactome: R-HSA-917729)
• Endosomal Sorting Complex Required for Transport (ESCRT) (KEGG: hsa04144)
Protein Summary
CHMP6 is a 201-amino-acid protein (UniProt Q96FZ7) that localizes to endosomal membranes. It contains a coiled-coil domain and a C-terminal basic region that mediates membrane binding. As a subunit of ESCRT-III, it recruits downstream components (CHMP4, CHMP2, CHMP3) to drive membrane scission during MVB formation, cytokinesis, and viral budding.
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