CHMP2B explained

Charged multivesicular body protein 2b is a protein that in humans is encoded by the CHMP2B gene.^{[1] [2]} 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 https://www.ncbi.nlm.nih.gov/pubmed/20301378. In a study of French families with several forms of frontotemporal dementia, it was found to be a relatively rare cause.^[3]

External links

• GeneReviews/NCBI/NIH/UW entry on CHMP2B-Related Frontotemporal Dementia

Further reading

• Maruyama K, Sugano S . Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. . Gene . 138 . 1–2 . 171–4 . 1994 . 8125298 . 10.1016/0378-1119(94)90802-8 .
• Brown J, Ashworth A, Gydesen S . Familial non-specific dementia maps to chromosome 3 . Hum. Mol. Genet. . 4 . 9 . 1625–8 . 1996 . 8541850 . 10.1093/hmg/4.9.1625 . etal.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K . Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library . Gene . 200 . 1–2 . 149–56 . 1997 . 9373149 . 10.1016/S0378-1119(97)00411-3 . etal.
• Ashworth A, Lloyd S, Brown J . Molecular genetic characterisation of frontotemporal dementia on chromosome 3 . Dementia and Geriatric Cognitive Disorders . 10 . 93–101 . 1999 . Suppl 1 . 10436350 . 10.1159/000051222 . 28623562 . etal.
• Lai CH, Chou CY, Ch'ang LY . Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics . Genome Res. . 10 . 5 . 703–13 . 2000 . 10810093 . 10.1101/gr.10.5.703 . 310876 . etal.
• Wiemann S, Weil B, Wellenreuther R . Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs . Genome Res. . 11 . 3 . 422–35 . 2001 . 11230166 . 10.1101/gr.GR1547R . 311072 . etal.
• Simpson JC, Wellenreuther R, Poustka A . Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing . EMBO Rep. . 1 . 3 . 287–92 . 2001 . 11256614 . 10.1093/embo-reports/kvd058 . 1083732 . etal.
• Strausberg RL, Feingold EA, Grouse LH . 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 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . etal . 2002PNAS...9916899M. free .
• Strack B, Calistri A, Craig S . AIP1/ALIX is a binding partner for HIV-1 p6 and EIAV p9 functioning in virus budding . Cell . 114 . 6 . 689–99 . 2003 . 14505569 . 10.1016/S0092-8674(03)00653-6 . 10733770 . etal. free .
• von Schwedler UK, Stuchell M, Müller B . The protein network of HIV budding . Cell . 114 . 6 . 701–13 . 2003 . 14505570 . 10.1016/S0092-8674(03)00714-1 . 16894972 . etal. free .
• Martin-Serrano J, Yarovoy A, Perez-Caballero D . 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 . 2003 . 14519844 . 10.1073/pnas.2133846100 . 218772 . etal. 2003PNAS..10012414M . free .
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Kelleher T, Ryan E, Barrett S . DMT1 genetic variability is not responsible for phenotype variability in hereditary hemochromatosis . Blood Cells Mol. Dis. . 33 . 1 . 35–9 . 2005 . 15223008 . 10.1016/j.bcmd.2004.04.005 . etal.
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Takeuchi K, Bjarnason I, Laftah AH . Expression of iron absorption genes in mouse large intestine . Scand. J. Gastroenterol. . 40 . 2 . 169–77 . 2005 . 15764147 . 10.1080/00365520510011489 . 29532707 . etal.
• Skibinski G, Parkinson NJ, Brown JM . Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia . Nat. Genet. . 37 . 8 . 806–8 . 2005 . 16041373 . 10.1038/ng1609 . 7064719 . etal.
• Rual JF, Venkatesan K, Hao T . Towards a proteome-scale map of the human protein-protein interaction network . Nature . 437 . 7062 . 1173–8 . 2005 . 16189514 . 10.1038/nature04209 . etal. 2005Natur.437.1173R . 4427026 .
• Cannon A, Baker M, Boeve B . CHMP2B mutations are not a common cause of frontotemporal lobar degeneration . Neurosci. Lett. . 398 . 1–2 . 83–4 . 2006 . 16431024 . 10.1016/j.neulet.2005.12.056 . 20423989 . etal.
• Nousiainen M, Silljé HH, Sauer G . Phosphoproteome analysis of the human mitotic spindle . Proc. Natl. Acad. Sci. U.S.A. . 103 . 14 . 5391–6 . 2006 . 16565220 . 10.1073/pnas.0507066103 . 1459365 . etal. 2006PNAS..103.5391N . free .

Notes and References

1. Howard TL, Stauffer DR, Degnin CR, Hollenberg SM . CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins . J Cell Sci . 114 . Pt 13 . 2395–404 . Sep 2001 . 10.1242/jcs.114.13.2395 . 11559748 .
2. Web site: Entrez Gene: CHMP2B chromatin modifying protein 2B.
3. Ghanim M, Guillot-Noel L, Pasquier F, Jornea L, Deramecourt V, Dubois B, Le Ber I, Brice A . CHMP2B mutations are rare in French families with frontotemporal lobar degeneration . J Neurol . 257. 12. 2032–6. July 2010 . 20625756 . 10.1007/s00415-010-5655-8 . 21422763 .