| Gene Symbol | CHMP2B |
| Aliases | Charged Multivesicular Body Protein 2B |
| Chromosome | 3p11.2 |
| Protein Family | ESCRT-III complex family |
| Protein Type | Other |
| Target Class | Other |
| Function | Under physiological conditions, CHMP2B performs essential functions in the nervous system. |
| Mechanism of Action | Therapeutic agents targeting CHMP2B would modulate ESCRT-III complex function to enhance endosomal sorting and autophagy, potentially clearing protein aggregates associated with frontotemporal dementia or compensating for loss-of-function mutations. Strategies include antisense oligonucleotides to modulate protein expression, autophagy enhancers to promote cellular clearance pathways, or small molecules that stabilize ESCRT-III complex assembly and function. |
| Primary Expression | Endosomes and endolysosomal membranes |
| Subcellular Localization | Endosomes and endolysosomal membranes and plays a significant role in the pathogenes |
| Druggability | Low (0.32) |
| Clinical Stage | Phase II |
| Molecular Weight | 24 kDa |
| Amino Acids | 213 aa |
| Pathways | Lysosomal function / degradation |
| UniProt ID | Q9UQN3 |
| GeneCards | CHMP2B |
| Human Protein Atlas | CHMP2B |
| Associated Diseases | Als, Alzheimer's disease, Amyotrophic Lateral Sclerosis, dementia |
| Known Drugs/Compounds | rapamycin |
| Interactions | Actin, ALS, ALS-CAUSING MUTATIONS, ALZHEIMER, AND, App |
| SciDEX Target | View Target Profile (2 clinical trials) |
| SciDEX Hypotheses | Lysosomal Membrane Repair Enhancement |
| KG Connections | 438 knowledge graph edges |
| Databases | GeneCardsNCBI GeneHPASTRING |
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