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)[1]
End	87,255,556 bp[1]
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)[2]
End	65,359,612 bp[2]
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

GRCh38: Ensembl release 89: ENSG00000083937 - Ensembl, May 2017
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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Brown J, Ashworth A, Gydesen S, et al. (1996). "Familial non-specific dementia maps to chromosome 3". Hum. Mol. Genet. 4 (9): 1625–8. doi:10.1093/hmg/4.9.1625. PMID 8541850.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
Ashworth A, Lloyd S, Brown J, et al. (1999). "Molecular genetic characterisation of frontotemporal dementia on chromosome 3". Dementia and Geriatric Cognitive Disorders. 10 Suppl 1: 93–101. doi:10.1159/000051222. PMID 10436350. S2CID 28623562.
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Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Strack B, Calistri A, Craig S, et al. (2003). "AIP1/ALIX is a binding partner for HIV-1 p6 and EIAV p9 functioning in virus budding". Cell. 114 (6): 689–99. doi:10.1016/S0092-8674(03)00653-6. PMID 14505569. S2CID 10733770.
von Schwedler UK, Stuchell M, Müller B, et al. (2003). "The protein network of HIV budding". Cell. 114 (6): 701–13. doi:10.1016/S0092-8674(03)00714-1. PMID 14505570. S2CID 16894972.
Martin-Serrano J, Yarovoy A, Perez-Caballero D, et al. (2003). "Divergent retroviral late-budding domains recruit vacuolar protein sorting factors by using alternative adaptor proteins". Proc. Natl. Acad. Sci. U.S.A. 100 (21): 12414–9. Bibcode:2003PNAS..10012414M. doi:10.1073/pnas.2133846100. PMC 218772. PMID 14519844.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Kelleher T, Ryan E, Barrett S, et al. (2005). "DMT1 genetic variability is not responsible for phenotype variability in hereditary hemochromatosis". Blood Cells Mol. Dis. 33 (1): 35–9. doi:10.1016/j.bcmd.2004.04.005. PMID 15223008.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Takeuchi K, Bjarnason I, Laftah AH, et al. (2005). "Expression of iron absorption genes in mouse large intestine". Scand. J. Gastroenterol. 40 (2): 169–77. doi:10.1080/00365520510011489. PMID 15764147. S2CID 29532707.
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.
Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
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.
Nousiainen M, Silljé HH, Sauer G, et al. (2006). "Phosphoproteome analysis of the human mitotic spindle". Proc. Natl. Acad. Sci. U.S.A. 103 (14): 5391–6. Bibcode:2006PNAS..103.5391N. doi:10.1073/pnas.0507066103. PMC 1459365. PMID 16565220.

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[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

References

External links

Further reading