CHMP2B
Charged Multivesicular Body Protein 2B
Gene Information Card
| Symbol | CHMP2B |
|---|---|
| Full Name | Charged Multivesicular Body Protein 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 3p11.2 |
| NCBI Gene ID | 25978 ncbi.nlm.nih.gov/gene/25978 |
| Ensembl ID | ENSG00000124537 |
| UniProt ID | Q9UQN3 |
| OMIM ID | 609512 |
| HGNC ID | 24537 |
| Aliases | CHMP2.5, DMT1, VPS2B, CGI-84 |
Description
CHMP2B encodes a component of the endosomal sorting complex required for transport III (ESCRT-III), which is essential for multivesicular body formation, cytokinesis, and autophagy. Mutations in CHMP2B cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by impairing endosomal trafficking and autophagic clearance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Frontotemporal Dementia (FTD) | Dominant-negative mutation (e.g., c.532-1G>A) disrupts ESCRT-III function, leading to accumulation of autophagic vesicles and neuronal cell death. | ClinVar, OMIM |
| Amyotrophic Lateral Sclerosis (ALS) | Missense mutations (e.g., p.Ile29Val) impair endosomal sorting and autophagy, contributing to motor neuron degeneration. | ClinVar, OMIM |
| Neurodegeneration with Brain Iron Accumulation (NBIA) | Rare variants may disrupt lysosomal function, though evidence is limited. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Heart | 5.4 | Low |
| Liver | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HeLa (cervical carcinoma) | 10.8 | Moderate expression |
| HEK293 (embryonic kidney) | 9.5 | Moderate expression |
| A549 (lung carcinoma) | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.532-1G>A (splice acceptor) | Splice site | Rare (founder mutation in Danish FTD families) | Dominant-negative; leads to truncated protein and impaired ESCRT-III function |
| p.Ile29Val (c.85A>G) | Missense | Rare | Gain-of-function?; associated with ALS |
| p.Asp148Tyr (c.442G>T) | Missense | Rare | Uncertain; reported in FTD |
| p.Arg186His (c.557G>A) | Missense | Rare | Uncertain; reported in ALS |
Mutation functional classification
Loss of Function (LOF)
Not clearly established; most mutations are dominant-negative or gain-of-function.
Gain of Function (GOF)
p.Ile29Val may confer toxic gain-of-function in ALS.
Dominant Negative (DN)
c.532-1G>A acts as dominant-negative by disrupting ESCRT-III assembly.
View complete mutation data：
Gene Ontology (GO)
| • endosomal transport | • multivesicular body sorting |
| • autophagy | • cytokinesis |
| • protein homooligomerization | • late endosome to lysosome transport |
Pathways
• ESCRT-III pathway
• Autophagy - lysosome
• Endosomal sorting
Protein Summary
CHMP2B is a 213-amino-acid protein that forms part of the ESCRT-III complex. It localizes to endosomal membranes and is required for membrane fission during multivesicular body biogenesis, cytokinesis, and autophagic clearance. Mutations cause neurodegenerative diseases by disrupting these processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHMP2B Knockout HEK293 Cell Line | EDJ-KQ8333 | Human | 25978 | Details Get a Quote |
| CHMP2B Knockout HeLa Cell Line | EDJ-KQ33010 | Human | 25978 | Details Get a Quote |
| CHMP2B Knockout A-549 Cell Line | EDJ-KQ34333 | Human | 25978 | Details Get a Quote |
| CHMP2B Knockout HCT 116 Cell Line | EDJ-KQ34334 | Human | 25978 | Details Get a Quote |
| CHMP2B(p.I29V*)Point Mutation in SH-SY5Y Cell Line | EDC90392 | Human | 25978 | Details Get a Quote |
| CHMP2B(p.M178V&A179X*)Point Mutation in SH-SY5Y Cell Line | EDC90394 | Human | 25978 | Details Get a Quote |
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