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] Band 3p11.2 Start 87,227,271 bp [1] End 87,255,556 bp [1]
Gene location (Mouse) Chr. Chromosome 16 (mouse) [2] Band 16|16 C1.3 Start 65,336,014 bp [2] End 65,359,612 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 25978 68942 Ensembl ENSG00000083937 ENSMUSG00000004843 UniProt Q9UQN3 Q8BJF9 RefSeq (mRNA) NM_001244644 NM_014043 NM_026879 RefSeq (protein) NP_001231573 NP_054762 NP_081155 Location (UCSC) Chr 3: 87.23 – 87.26 Mb Chr 16: 65.34 – 65.36 Mb PubMed search [3] [4]
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

1. GRCh38: Ensembl release 89: ENSG00000083937 - Ensembl, May 2017
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.
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.
6. "Entrez Gene: CHMP2B chromatin modifying protein 2B".
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.

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 .

Further reading

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• 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.
• Lai CH, Chou CY, Ch'ang LY, et al. (2000). "Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics". Genome Res. 10 (5): 703–13. doi:10.1101/gr.10.5.703. PMC   310876 . PMID   10810093.
• Wiemann S, Weil B, Wellenreuther R, et al. (2001). "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. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
• Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC   1083732 . PMID   11256614.
• 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.