CHMP2B

Charged multivesicular body protein 2b is a protein that in humans is encoded by the CHMP2B gene.^[5][6] 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.

PDBOrtholog search: PDBe RCSB

AliasesCHMP2B, ALS17, CHMP2.5, DMT1, VPS2-2, VPS2B, charged multivesicular body protein 2B, FTDALS7

External IDsOMIM: 609512; MGI: 1916192; HomoloGene: 8534; GeneCards: CHMP2B; OMA:CHMP2B - orthologs

Chr.Chromosome 3 (human)^[1]

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CHMP2B
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2JQK
Identifiers
Aliases	CHMP2B, ALS17, CHMP2.5, DMT1, VPS2-2, VPS2B, charged multivesicular body protein 2B, FTDALS7
External IDs	OMIM: 609512; MGI: 1916192; HomoloGene: 8534; GeneCards: CHMP2B; OMA:CHMP2B - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p11.2 Start 87,227,271 bp[1] End 87,255,556 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16|16 C1.3 Start 65,336,014 bp[2] End 65,359,612 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in internal globus pallidus amniotic fluid mucosa of sigmoid colon jejunal mucosa palpebral conjunctiva pons oocyte secondary oocyte subthalamic nucleus germinal epithelium Top expressed in spermatocyte lobe of prostate otolith organ utricle jejunum gastrula spermatid migratory enteric neural crest cell decidua left colon More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein domain specific binding protein binding cadherin binding Cellular component cytoplasm ESCRT III complex cytosol endosome late endosome late endosome membrane membrane plasma membrane intracellular anatomical structure lysosome extracellular exosome multivesicular body postsynaptic density glutamatergic synapse Biological process regulation of centrosome duplication cognition nucleus organization viral life cycle neuron cellular homeostasis multivesicular body assembly regulation of mitotic spindle assembly endosome organization autophagy endosomal transport protein transport septum digestion after cytokinesis mitotic metaphase plate congression vacuolar transport ESCRT III complex disassembly macroautophagy multivesicular body-lysosome fusion transport viral budding via host ESCRT complex endosome transport via multivesicular body sorting pathway late endosome to vacuole transport midbody abscission regulation of modification of postsynaptic structure regulation of postsynapse organization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 25978 68942 Ensembl ENSG00000083937 ENSMUSG00000004843 UniProt Q9UQN3 Q8BJF9 RefSeq (mRNA) NM_001244644 NM_014043 NM_026879 RefSeq (protein) NP_001231573 NP_054762 NP_081155 Location (UCSC) Chr 3: 87.23 – 87.26 Mb Chr 16: 65.34 – 65.36 Mb PubMed search [3] [4]
Wikidata
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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.^[7]