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Protein Page:
CHMP2B (human)

CHMP2B Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Defects in CHMP2B are the cause of frontotemporal dementia, chromosome 3-linked (FTD3). FTD3 is characterized by an onset of dementia in the late 50's initially characterized by behavioral and personality changes including apathy, restlessness, disinhibition and hyperorality, progressing to stereotyped behaviors, non-fluent aphasia, mutism and dystonia, with a marked lack of insight. The brains of individuals with FTD3 have no distinctive neuropathological features. They show global cortical and central atrophy, but no beta-amyloid deposits. Defects in CHMP2B are the cause of amyotrophic lateral sclerosis type 17 (ALS17). An adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency. Belongs to the SNF7 family. Note: This description may include information from UniProtKB.
Chromosomal Location of Human Ortholog: 3p11.2
Cellular Component: cell-cell adherens junction; cytoplasm; cytosol; endosome; intracellular; late endosome; lysosome; mitochondrion; nucleus; plasma membrane
Molecular Function: protein binding; protein domain specific binding
Biological Process: autophagy; cell separation during cytokinesis; cognition; endosome organization and biogenesis; endosome transport; mitotic metaphase plate congression; nuclear organization and biogenesis; viral infectious cycle
Disease: Amyotrophic Lateral Sclerosis 17; Frontotemporal Dementia, Chromosome 3-linked
Reference #:  Q9UQN3 (UniProtKB)
Alt. Names/Synonyms: Charged multivesicular body protein 2b; CHM2B; CHMP2.5; CHMP2B; chromatin modifying protein 2B; Chromatin-modifying protein 2b; DKFZp564O123; DMT1; hVps2-2; Vacuolar protein sorting-associated protein 2-2; vacuolar protein-sorting-associated protein 2-2; VPS2 homolog B; Vps2-2; VPS2B
Gene Symbols: CHMP2B
Molecular weight: 23,907 Da
Basal Isoelectric point: 8.81  Predict pI for various phosphorylation states
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