CHMP2B information

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)
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; ; 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
	; ; ; ;
	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 [1]. In a study of French families with several forms of frontotemporal dementia, it was found to be a relatively rare cause.^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000083937 – Ensembl, May 2017
^ ^a ^b ^c 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.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000083937 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

CHMP2B information

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List of OMIM disorder codes