CHMP2B

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
Gene location (Human)
Chr.	Chromosome 3 (human)
End	87,255,556 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	65,359,612 bp
RNA expression pattern
	Top expressed in
	internal globus pallidus; ; amniotic fluid; ; jejunal mucosa; ; palpebral conjunctiva; ; pons; ; oocyte; ; secondary oocyte; ; subthalamic nucleus; ; germinal epithelium; ; inferior ganglion of vagus nerve;
	Top expressed in
	spermatocyte; ; otolith organ; ; utricle; ; jejunum; ; spermatid; ; left colon; ; cervix; ; medullary collecting duct; ; conjunctival fornix; ; epithelium of stomach;
	More reference expression data
	; ; ; ;
	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
	25978
	68942
	ENSG00000083937
	ENSMUSG00000004843
	Q9UQN3
	Q8BJF9
	NM_001244644; NM_014043
	NM_026879
	NP_001231573; NP_054762
	NP_081155
	Wikidata
View/Edit Human	View/Edit Mouse

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.

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]

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000083937 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000004843 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Howard TL, Stauffer DR, Degnin CR, Hollenberg SM (Sep 2001). "CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins". J Cell Sci. 114 (Pt 13): 2395–404. doi:10.1242/jcs.114.13.2395. PMID 11559748.
↑ "Entrez Gene: CHMP2B chromatin modifying protein 2B".
↑ Ghanim M, Guillot-Noel L, Pasquier F, Jornea L, Deramecourt V, Dubois B, Le Ber I, Brice A (July 2010). "CHMP2B mutations are rare in French families with frontotemporal lobar degeneration". J Neurol. 257 (12): 2032–6. doi:10.1007/s00415-010-5655-8. PMID 20625756. S2CID 21422763.

External links

GeneReviews/NCBI/NIH/UW entry on CHMP2B-Related Frontotemporal Dementia
Human CHMP2B genome location and CHMP2B gene details page in the UCSC Genome Browser.
Overview of all the structural information available in the PDB for UniProt: Q9UQN3 (Charged multivesicular body protein 2b) at the PDBe-KB.

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Skibinski G, Parkinson NJ, Brown JM, et al. (2005). "Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia". Nat. Genet. 37 (8): 806–8. doi:10.1038/ng1609. PMID 16041373. S2CID 7064719.
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Cannon A, Baker M, Boeve B, et al. (2006). "CHMP2B mutations are not a common cause of frontotemporal lobar degeneration". Neurosci. Lett. 398 (1–2): 83–4. doi:10.1016/j.neulet.2005.12.056. PMID 16431024. S2CID 20423989.
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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000083937 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000004843 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11559748-5] Howard TL, Stauffer DR, Degnin CR, Hollenberg SM (Sep 2001). "CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins". J Cell Sci. 114 (Pt 13): 2395–404. doi:10.1242/jcs.114.13.2395. PMID 11559748.

[entrez-6] "Entrez Gene: CHMP2B chromatin modifying protein 2B".

[pmid20625756-7] Ghanim M, Guillot-Noel L, Pasquier F, Jornea L, Deramecourt V, Dubois B, Le Ber I, Brice A (July 2010). "CHMP2B mutations are rare in French families with frontotemporal lobar degeneration". J Neurol. 257 (12): 2032–6. doi:10.1007/s00415-010-5655-8. PMID 20625756. S2CID 21422763.

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References

External links

Further reading