CHMP2A
Charged Multivesicular Body Protein 2A
Gene Information Card
| Symbol | CHMP2A |
|---|---|
| Full Name | Charged Multivesicular Body Protein 2A |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 27243 ncbi.nlm.nih.gov/gene/27243 |
| Ensembl ID | ENSG00000130724 |
| UniProt ID | O43633 |
| OMIM ID | 610896 |
| HGNC ID | 30216 |
| Aliases | BC-2, CHMP2, VPS2, VPS2A |
Description
CHMP2A encodes a component of the ESCRT-III (Endosomal Sorting Complexes Required for Transport III) complex, which is essential for multivesicular body biogenesis, cytokinesis, and autophagic clearance. The protein is involved in membrane fission and scission events, particularly in the endosomal pathway. Mutations in CHMP2A have been linked to neurodegenerative disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Frontotemporal Dementia (FTD) | Impaired ESCRT-III function leads to defective autophagic clearance and accumulation of protein aggregates | ClinVar, OMIM |
| Amyotrophic Lateral Sclerosis (ALS) | Dysregulation of endosomal trafficking and autophagy due to CHMP2A mutations | ClinVar |
| Cancer (various types) | Altered ESCRT-III activity may affect cell division and tumor suppression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 9.7 | Low |
| Kidney | 10.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 12.3 | Moderate expression |
| SH-SY5Y | 14.1 | High expression |
| A549 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38Cys) | Missense | <0.01% | Alters protein stability and ESCRT-III assembly |
| c.205G>A (p.Glu69Lys) | Missense | <0.01% | Impairs membrane binding |
| c.301_303del (p.Lys101del) | Deletion | Rare | Disrupts helical domain |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations impair ESCRT-III complex assembly, leading to defective endosomal sorting and autophagy.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Dominant-negative effects observed in some missense mutations that disrupt normal ESCRT-III function.
View complete mutation data：
Gene Ontology (GO)
| • ESCRT III complex | • endosome to lysosome transport |
| • cytokinesis | • autophagic vesicle assembly |
| • membrane fission |
Pathways
• ESCRT-III pathway
• Endosomal sorting
• Autophagy
Protein Summary
CHMP2A is a 222-amino acid protein that forms part of the ESCRT-III complex. It localizes to endosomal membranes and mediates membrane invagination and scission. The protein contains a coiled-coil domain essential for polymerization and interaction with other ESCRT components. Post-translational modifications include phosphorylation and ubiquitination, regulating its activity and turnover.
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