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CHMP2B

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{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Infobox_gene}}

Charged multivesicular body protein 2b is a protein that in humans is encoded by the CHMP2B gene.{{cite journal | vauthors = Howard TL, Stauffer DR, Degnin CR, Hollenberg SM | title = CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins | journal = J Cell Sci | volume = 114 | issue = Pt 13 | pages = 2395–404 |date=Sep 2001 | doi = 10.1242/jcs.114.13.2395 | pmid = 11559748 }}{{cite web | title = Entrez Gene: CHMP2B chromatin modifying protein 2B| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25978}} 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.{{cite journal | vauthors = Ghanim M, Guillot-Noel L, Pasquier F, Jornea L, Deramecourt V, Dubois B, Le Ber I, Brice A | title = CHMP2B mutations are rare in French families with frontotemporal lobar degeneration | journal = J Neurol | volume = 257| issue = 12| pages = 2032–6|date=July 2010 | pmid = 20625756 | doi = 10.1007/s00415-010-5655-8 | s2cid = 21422763 }}

References

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External links

  • [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ftd-chmp2b GeneReviews/NCBI/NIH/UW entry on CHMP2B-Related Frontotemporal Dementia]
  • {{UCSC gene info|CHMP2B}}
  • {{PDBe-KB2|Q9UQN3|Charged multivesicular body protein 2b}}

Further reading

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  • {{cite journal | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8 }}
  • {{cite journal | vauthors=Brown J, Ashworth A, Gydesen S |title=Familial non-specific dementia maps to chromosome 3 |journal=Hum. Mol. Genet. |volume=4 |issue= 9 |pages= 1625–8 |year= 1996 |pmid= 8541850 |doi=10.1093/hmg/4.9.1625 |display-authors=etal}}
  • {{cite journal | vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3 |display-authors=etal}}
  • {{cite journal | vauthors=Ashworth A, Lloyd S, Brown J |title=Molecular genetic characterisation of frontotemporal dementia on chromosome 3 |journal=Dementia and Geriatric Cognitive Disorders |volume=10 |pages= 93–101 |year= 1999 |issue=Suppl 1 |pmid= 10436350 |doi=10.1159/000051222 |s2cid=28623562 |display-authors=etal}}
  • {{cite journal | vauthors=Lai CH, Chou CY, Ch'ang LY |title=Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics |journal=Genome Res. |volume=10 |issue= 5 |pages= 703–13 |year= 2000 |pmid= 10810093 |doi=10.1101/gr.10.5.703 | pmc=310876 |display-authors=etal}}
  • {{cite journal | vauthors=Wiemann S, Weil B, Wellenreuther R |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.GR1547R | pmc=311072 |display-authors=etal}}
  • {{cite journal | vauthors=Simpson JC, Wellenreuther R, Poustka A |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287–92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058 | pmc=1083732 |display-authors=etal}}
  • {{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal |bibcode=2002PNAS...9916899M|doi-access=free }}
  • {{cite journal | vauthors=Strack B, Calistri A, Craig S |title=AIP1/ALIX is a binding partner for HIV-1 p6 and EIAV p9 functioning in virus budding |journal=Cell |volume=114 |issue= 6 |pages= 689–99 |year= 2003 |pmid= 14505569 |doi=10.1016/S0092-8674(03)00653-6 |s2cid=10733770 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=von Schwedler UK, Stuchell M, Müller B |title=The protein network of HIV budding |journal=Cell |volume=114 |issue= 6 |pages= 701–13 |year= 2003 |pmid= 14505570 |doi=10.1016/S0092-8674(03)00714-1 |s2cid=16894972 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Martin-Serrano J, Yarovoy A, Perez-Caballero D |title=Divergent retroviral late-budding domains recruit vacuolar protein sorting factors by using alternative adaptor proteins |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=100 |issue= 21 |pages= 12414–9 |year= 2003 |pmid= 14519844 |doi= 10.1073/pnas.2133846100 | pmc=218772 |display-authors=etal|bibcode=2003PNAS..10012414M |doi-access=free }}
  • {{cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal|doi-access=free }}
  • {{cite journal | vauthors=Kelleher T, Ryan E, Barrett S |title=DMT1 genetic variability is not responsible for phenotype variability in hereditary hemochromatosis |journal=Blood Cells Mol. Dis. |volume=33 |issue= 1 |pages= 35–9 |year= 2005 |pmid= 15223008 |doi= 10.1016/j.bcmd.2004.04.005 |display-authors=etal}}
  • {{cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 |display-authors=etal}}
  • {{cite journal | vauthors=Takeuchi K, Bjarnason I, Laftah AH |title=Expression of iron absorption genes in mouse large intestine |journal=Scand. J. Gastroenterol. |volume=40 |issue= 2 |pages= 169–77 |year= 2005 |pmid= 15764147 |doi= 10.1080/00365520510011489 |s2cid=29532707 |display-authors=etal}}
  • {{cite journal | vauthors=Skibinski G, Parkinson NJ, Brown JM |title=Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia |journal=Nat. Genet. |volume=37 |issue= 8 |pages= 806–8 |year= 2005 |pmid= 16041373 |doi= 10.1038/ng1609 |s2cid=7064719 |display-authors=etal|url=https://zenodo.org/record/896155 }}
  • {{cite journal | vauthors=Rual JF, Venkatesan K, Hao T |title=Towards a proteome-scale map of the human protein-protein interaction network |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 |display-authors=etal|bibcode=2005Natur.437.1173R |s2cid=4427026 }}
  • {{cite journal | vauthors=Cannon A, Baker M, Boeve B |title=CHMP2B mutations are not a common cause of frontotemporal lobar degeneration |journal=Neurosci. Lett. |volume=398 |issue= 1–2 |pages= 83–4 |year= 2006 |pmid= 16431024 |doi= 10.1016/j.neulet.2005.12.056 |s2cid=20423989 |display-authors=etal}}
  • {{cite journal | vauthors=Nousiainen M, Silljé HH, Sauer G |title=Phosphoproteome analysis of the human mitotic spindle |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 14 |pages= 5391–6 |year= 2006 |pmid= 16565220 |doi= 10.1073/pnas.0507066103 | pmc=1459365 |display-authors=etal|bibcode=2006PNAS..103.5391N |doi-access=free }}

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