CHMP4A
Charged Multivesicular Body Protein 4A
Gene Information Card
| Symbol | CHMP4A |
|---|---|
| Full Name | Charged Multivesicular Body Protein 4A |
| Gene Type | Protein coding |
| Chromosomal Location | 14q12 |
| NCBI Gene ID | 29082 ncbi.nlm.nih.gov/gene/29082 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9BY43 |
| OMIM ID | 610052 |
| HGNC ID | 25678 |
| Aliases | CHMP4, SNF7, SNF7-1, VPS32A |
Description
CHMP4A encodes a core component of the ESCRT-III complex, essential for multivesicular body (MVB) biogenesis, cytokinesis, and viral budding. It mediates membrane fission and scission events, and its dysregulation is implicated in cancer and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression promotes tumor growth and metastasis | PMID: 25642768 |
| Breast cancer | Upregulation correlates with poor prognosis | PMID: 27323851 |
| Alzheimer's disease | Altered expression in hippocampal neurons | PMID: 29590633 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Liver | 12.8 | Medium |
| Lung | 10.5 | Medium |
| Kidney | 9.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.1 | Moderate expression |
| HepG2 | 11.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| c.124G>A | Synonymous | 0.02% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • ESCRT III complex | • protein transport |
| • viral budding | • cytokinesis |
| • membrane fission |
Pathways
• ESCRT-mediated multivesicular body sorting
• Cytokinesis
• HIV budding
Protein Summary
CHMP4A is a 224-amino-acid protein that forms helical filaments on membranes, driving membrane invagination and scission. It interacts with other ESCRT-III subunits and VPS4 to disassemble the complex after membrane fission.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHMP4A Knockout HEK293 Cell Line | EDJ-KQ51231 | Human | 29082 | Details Get a Quote |
| CHMP4A Knockout HeLa Cell Line | EDJ-KQ56091 | Human | 29082 | Details Get a Quote |
| CHMP4A Knockout A-549 Cell Line | EDJ-KQ64577 | Human | 29082 | Details Get a Quote |
| CHMP4A Knockout HCT 116 Cell Line | EDJ-KQ73031 | Human | 29082 | Details Get a Quote |
