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{{Infobox_gene}}
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'''Charged multivesicular body protein 2b''' is a [[protein]] that in humans is encoded by the ''CHMP2B'' [[gene]].<ref name="pmid11559748">{{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 | pmid = 11559748 | pmc =  | doi =  }}</ref><ref name="entrez">{{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| accessdate = }}</ref> 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.
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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.<ref name="pmid20625756">{{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 | url = | issn = }}</ref>
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==References==
{{GNF_Protein_box
{{reflist}}
| image = 
| image_source = 
| PDB =
| Name = Chromatin modifying protein 2B
| HGNCid = 24537
| Symbol = CHMP2B
| AltSymbols =; DMT1; CHMP2.5; DKFZP564O123; VPS2-2
| OMIM = 609512
| ECnumber = 
| Homologene = 8534
| MGIid = 
| GeneAtlas_image1 = PBB_GE_CHMP2B_202536_at_tn.png
| GeneAtlas_image2 = PBB_GE_CHMP2B_202537_s_at_tn.png
| GeneAtlas_image3 = PBB_GE_CHMP2B_202538_s_at_tn.png
| Function =
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}}
| Process = {{GNF_GO|id=GO:0015031 |text = protein transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 25978
    | Hs_Ensembl = ENSG00000083937
    | Hs_RefseqProtein = NP_054762
    | Hs_RefseqmRNA = NM_014043
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 3
    | Hs_GenLoc_start = 87359140
    | Hs_GenLoc_end = 87387338
    | Hs_Uniprot = Q9UQN3
    | Mm_EntrezGene = 
    | Mm_Ensembl = 
    | Mm_RefseqmRNA = 
    | Mm_RefseqProtein = 
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''Chromatin modifying protein 2B''', also known as '''CHMP2B''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CHMP2B chromatin modifying protein 2B| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25978| accessdate = }}</ref>


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==External links==
{{PBB_Summary
*[https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ftd-chmp2b  GeneReviews/NCBI/NIH/UW entry on CHMP2B-Related Frontotemporal Dementia]
| section_title =
* {{UCSC gene info|CHMP2B}}
| summary_text =
}}


==References==
{{reflist|2}}
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| citations =
*{{cite journal  | author=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=  }}
*{{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  | author=Brown J, Ashworth A, Gydesen S, ''et al.'' |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= }}
*{{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  | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |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= }}
*{{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  | author=Ashworth A, Lloyd S, Brown J, ''et al.'' |title=Molecular genetic characterisation of frontotemporal dementia on chromosome 3. |journal=Dementia and geriatric cognitive disorders |volume=10 Suppl 1 |issue=  |pages= 93-101 |year= 1999 |pmid= 10436350 |doi=  }}
*{{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 Suppl 1 |issue=  |pages= 93–101 |year= 1999 |pmid= 10436350 |doi=10.1159/000051222 |display-authors=etal}}
*{{cite journal  | author=Lai CH, Chou CY, Ch'ang LY, ''et al.'' |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=  }}
*{{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  | author=Wiemann S, Weil B, Wellenreuther R, ''et al.'' |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.154701 }}
*{{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  | author=Simpson JC, Wellenreuther R, Poustka A, ''et al.'' |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 }}
*{{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  | author=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 |year= 2002 |pmid= 11559748 |doi=  }}
*{{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}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |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 }}
*{{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  |display-authors=etal}}
*{{cite journal  | author=Strack B, Calistri A, Craig S, ''et al.'' |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=  }}
*{{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 |display-authors=etal}}
*{{cite journal  | author=von Schwedler UK, Stuchell M, Müller B, ''et al.'' |title=The protein network of HIV budding. |journal=Cell |volume=114 |issue= 6 |pages= 701-13 |year= 2003 |pmid= 14505570 |doi=  }}
*{{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}}
*{{cite journal  | author=Martin-Serrano J, Yarovoy A, Perez-Caballero D, ''et al.'' |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 }}
*{{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}}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |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 }}
*{{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  | author=Kelleher T, Ryan E, Barrett S, ''et al.'' |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 }}
*{{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  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |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 }}
*{{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 |display-authors=etal}}
*{{cite journal  | author=Takeuchi K, Bjarnason I, Laftah AH, ''et al.'' |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 }}
*{{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 |display-authors=etal}}
*{{cite journal  | author=Skibinski G, Parkinson NJ, Brown JM, ''et al.'' |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 }}
*{{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}}
*{{cite journal  | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |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 }}
*{{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 |display-authors=etal}}
*{{cite journal  | author=Cannon A, Baker M, Boeve B, ''et al.'' |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 }}
*{{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}}
*{{cite journal | author=Nousiainen M, Silljé HH, Sauer G, ''et al.'' |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 }}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 02:01, 23 March 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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 [2]. In a study of French families with several forms of frontotemporal dementia, it was found to be a relatively rare cause.[3]

References

  1. ↑ 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. PMID 11559748.
  2. ↑ "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 (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.

External links

Further reading



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