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Charged multivesicular body protein 2B

CHMP2B, charged multivesicular body protein 2B
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] (from NCBI)
Top mentioned proteins: TDP-43, MAPT, Ubiquitin, Arylamine N-Acetyltransferase, Als
Papers on CHMP2B
Rare autosomal copy number variations in early-onset familial Alzheimer's disease.
New
Tanzi et al., United States. In Mol Psychiatry, Jun 2014
In addition, CNVs encompassing two known frontotemporal dementia genes, CHMP2B and MAPT were found.
CK2 involvement in ESCRT-III complex phosphorylation.
New
Pinna et al., Padova, Italy. In Arch Biochem Biophys, Apr 2014
Here we show that protein kinase CK2α is involved in the phosphorylation of the ESCRT-III subunits CHMP3 and CHMP2B, as well as of VPS4B/SKD1, an ATPase that mediates ESCRT-III disassembly.
ALS-associated protein FIG4 is localized in Pick and Lewy bodies, and also neuronal nuclear inclusions, in polyglutamine and intranuclear inclusion body diseases.
New
Wakabayashi et al., Hirosaki, Japan. In Neuropathology, Feb 2014
Moreover, ALS-associated proteins (transactivation response DNA protein 43 (TDP-43), fused in sarcoma (FUS), optineurin, ubiquilin-2, charged mutivesicular body protein 2b (CHMP2B) and valosin-containing protein) are involved in inclusion body formation in several neurodegenerative diseases.
Expression of mutant CHMP2B, an ESCRT-III component involved in frontotemporal dementia, causes eye deformities due to Notch misregulation in Drosophila.
New
Ahmad et al., Waterville, United States. In Faseb J, Feb 2014
A mutation in CHMP2B (CHMP2B(Intron5), an ESCRT-III component) that is associated with a hereditary form of frontotemporal dementia (FTD3) disrupts the endosomal-lysosomal pathway and causes accumulation of autophagosomes and multilamellar structures.
Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not.
New
Rogaeva et al., Toronto, Canada. In Exp Neurol, Dec 2013
Two of the genes causing FTD alone (CHMP2B and GRN) are associated with damaged autophagy/lysosomal pathway.
Syntaxin 13, a genetic modifier of mutant CHMP2B in frontotemporal dementia, is required for autophagosome maturation.
New
Gao et al., Worcester, United States. In Mol Cell, Nov 2013
Here we identified Drosophila N-ethylmaleimide-sensitive fusion protein 2 (dNSF2) and soluble NSF attachment protein (Snap) as strong genetic modifiers of mutant CHMP2B, an ESCRT-III component that causes frontotemporal dementia and autophagosome accumulation.
[The genetics of corticobasal syndrome].
Review
Tanaka et al., Yokohama, Japan. In Brain Nerve, 2013
FTLD is also associated with VCP, CHMP2B, TARDBP and FUS mutations, but each of these account for <1% of familial FTLD cases.
Mouse models of frontotemporal dementia.
Review
Roberson, Birmingham, United States. In Ann Neurol, 2012
MAPT/tau, GRN/progranulin, and C9ORF72 have emerged as common FTD genes, and TARDBP/TDP-43, VCP, FUS, and CHMP2B have been identified as less common genetic causes.
Molecular markers for granulovacuolar degeneration are present in rimmed vacuoles.
Matsumoto et al., Hiroshima, Japan. In Plos One, 2012
CHMP2B, pTDP43, caspase 3, LRRK2, annexin 2 and flotillin-1 were detected on the rim and were diffusely distributed in the cytoplasm of RV-positive fibers.
Frontotemporal lobar degeneration: epidemiology, pathology, diagnosis and management.
Review
Matthews et al., Indianapolis, United States. In Cns Drugs, 2012
Mutations in MAPT, PGRN, TARDBP, VCP and CHMP2B have been described, along with a recently identified C9ORF72 hexanucleotide repeat expansion.
The genetics and neuropathology of frontotemporal lobar degeneration.
Review
Cruts et al., Antwerp, Belgium. In Acta Neuropathol, 2012
Rare mutations were also identified in the genes encoding valosin-containing protein (VCP) and charged multivesicular body protein 2B (CHMP2B).
The functional analysis of the CHMP2B missense mutation associated with neurodegenerative diseases in the endo-lysosomal pathway.
GeneRIF
Lee et al., Taejŏn, South Korea. In Biochem Biophys Res Commun, 2012
This study provided a better understanding of the cellular pathogenesis of neurodegenerative diseases associated with various missense mutations of CHMP2B as well as endocytic defects.
Frontotemporal dementia: implications for understanding Alzheimer disease.
Review
Spillantini et al., Cambridge, United Kingdom. In Cold Spring Harb Perspect Med, 2012
The other four genes are transactive response-DNA binding protein-43 (TARDBP), fused in sarcoma (FUS), valosin-containing protein (VCP), and charged multivesicular body protein 2B (CHMP2B).
Charged multivesicular body protein 2B (CHMP2B) of the endosomal sorting complex required for transport-III (ESCRT-III) polymerizes into helical structures deforming the plasma membrane.
GeneRIF
Sadoul et al., Grenoble, France. In J Biol Chem, 2011
CHMP2B polymerization scaffolds membranes in vivo represents a first step toward demonstrating its structural role during outward membrane deformation
Frontotemporal dementia caused by CHMP2B mutations.
Review
GeneRIF
FReJA consortium et al., London, United Kingdom. In Curr Alzheimer Res, 2011
recent advances in our understanding of the molecular basis of CHMP2B mutations indicate that the mechanisms involved may be broadly relevant to neurodegenerative processes.[review]
CHMP2B mutations are rare in French families with frontotemporal lobar degeneration.
GeneRIF
French Research Network on FTD and FTD/MND et al., Paris, France. In J Neurol, 2010
A novel heterozygous variant p.Ser194Leu (c.581C>T) is found in exon 6 of the CHMP2B gene in one male patient with pure frontotemporal lobar degeneration.
CHMP2B mutants linked to frontotemporal dementia impair maturation of dendritic spines.
GeneRIF
Goldberg et al., Grenoble, France. In J Cell Sci, 2010
CHMP2B is required for spine growth. Taken together, these results demonstrate that a mutant ESCRT-III subunit linked to a human neurodegenerative disease can disrupt the normal pattern of spine development.
Mutations in progranulin (GRN) within the spectrum of clinical and pathological phenotypes of frontotemporal dementia.
Review
Impact
Heutink et al., Rotterdam, Netherlands. In Lancet Neurol, 2008
20-30% of cases of FTD follow an autosomal dominant pattern of inheritance, and half of which are caused by defects in MAPT, CHMP2B, and VCP.
ESCRT-III recognition by VPS4 ATPases.
Impact
Sundquist et al., Salt Lake City, United States. In Nature, 2007
Structures of VPS4A MIT-CHMP1A and VPS4B MIT-CHMP2B complexes reveal that the C-terminal CHMP motif forms an amphipathic helix that binds in a groove between the last two helices of the tetratricopeptide-like repeat (TPR) of the VPS4 MIT domain, but in the opposite orientation to that of a canonical TPR interaction.
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.
Impact
GeneRIF
Collinge et al., London, United Kingdom. In Nat Genet, 2005
identify a mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, and show that it results in aberrant mRNA splicing in tissue samples from affected members of family with autosomal dominant frontotermporal dementia
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