CHMP4C
Charged Multivesicular Body Protein 4C
Gene Information Card
| Symbol | CHMP4C |
|---|---|
| Full Name | Charged Multivesicular Body Protein 4C |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 92421 ncbi.nlm.nih.gov/gene/92421 |
| Ensembl ID | ENSG00000164611 |
| UniProt ID | Q96CF2 |
| OMIM ID | 610897 |
| HGNC ID | 25695 |
| Aliases | CHMP4c, SNF7-3, VPS32C |
Description
CHMP4C encodes a component of the endosomal sorting complex required for transport III (ESCRT-III), which is essential for multivesicular body biogenesis, cytokinesis, and membrane remodeling. It functions in the abscission checkpoint during cell division and in autophagic pathways.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (breast, colorectal) | Dysregulation of CHMP4C expression disrupts cytokinesis and promotes aneuploidy | PMID: 25329319 |
| Neurodevelopmental disorders | Mutations impair ESCRT-III function affecting neuronal abscission | PMID: 28459452 |
| Viral infection (HIV-1) | CHMP4C interacts with viral Gag protein for budding | PMID: 17686866 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 10.8 | Medium |
| Brain | 6.5 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.3 | Cervical cancer cell line |
| HEK293 | 9.7 | Embryonic kidney cells |
| K562 | 7.4 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.437G>A (p.Arg146His) | Missense | 0.01% (gnomAD) | Altered ESCRT-III assembly |
| c.562C>T (p.Arg188Trp) | Missense | 0.005% | Impaired cytokinesis |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations disrupt ESCRT-III complex stability, leading to cytokinesis failure and genomic instability.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Dominant-negative effects observed with certain missense variants that interfere with wild-type CHMP4C function.
View complete mutation data：
Gene Ontology (GO)
| • ESCRT III complex | • protein transport |
| • cytokinesis | • viral budding |
| • autophagosome assembly |
Pathways
• ESCRT-mediated multivesicular body sorting
• Cytokinetic abscission
• HIV-1 budding
Protein Summary
CHMP4C is a 224-amino acid protein that forms filaments at the midbody during cytokinesis. It interacts with other ESCRT-III subunits and VPS4 to mediate membrane fission. Post-translational modifications include phosphorylation and ubiquitination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHMP4C Knockout HEK293 Cell Line | EDJ-KQ3500 | Human | 92421 | Details Get a Quote |
| CHMP4C Knockout A-549 Cell Line | EDJ-KQ25304 | Human | 92421 | Details Get a Quote |
| CHMP4C Knockout HCT 116 Cell Line | EDJ-KQ25305 | Human | 92421 | Details Get a Quote |
| CHMP4C Knockout HeLa Cell Line | EDJ-KQ25306 | Human | 92421 | Details Get a Quote |
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