CHMP2B
Sign in to saveAlso known as ALS17, CHMP2.5, DMT1, VPS2-2, VPS2B, charged multivesicular body protein 2B, FTDALS7
Charged multivesicular body protein 2b is a protein that in humans is encoded by the CHMP2B gene. It forms part of one of the endosomal sorting complexes required for transport (ESCRT) - specifically ESCRT-III - which are a series of complexes involved in cell membrane remodelling. CHMP2B forms long chains that spiral around the neck of a budding vesicle. Along with the other components of ESCRT-III, CHMP2B constricts the neck of the vesicle just before it is cleaved away from the membrane.
Gene data
CHMP2B- Name
- charged multivesicular body protein 2B
- Type
- protein-coding
- Aliases
- ALS17, CHMP2.5, DMT1, FTDALS7, VPS2-2, VPS2B
This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008].
via MyGene.info
Gene · Ensembl
charged multivesicular body protein 2B
- Symbol
- CHMP2B
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 3:87,227,258-87,259,944
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
Show 5 more facts
- HomoloGene ID
- 8534
- exact match
- identifiers.org/ncbigene/25978
- genomic end
- 87255556
- genomic start
- 87276421
- cytogenetic location
- 3p11.2
Sources (4)
via Wikidata · CC0
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Article
3 sectionsContents
- References
- External links
- Further reading
Charged multivesicular body protein 2b is a protein that in humans is encoded by the CHMP2B gene. It forms part of one of the endosomal sorting complexes required for transport (ESCRT) - specifically ESCRT-III - which are a series of complexes involved in cell membrane remodelling. CHMP2B forms long chains that spiral around the neck of a budding vesicle. Along with the other components of ESCRT-III, CHMP2B constricts the neck of the vesicle just before it is cleaved away from the membrane.
Mutations of this gene cause chromosome 3-linked frontotemporal dementia (FTD3), which has been described in several members of one Danish family In a study of French families with several forms of frontotemporal dementia, it was found to be a relatively rare cause.