CHMP2B

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CHMP2B
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCHMP2B, ALS17, CHMP2.5, DMT1, VPS2-2, VPS2B, charged multivesicular body protein 2B
External IDsMGI: 1916192 HomoloGene: 8534 GeneCards: CHMP2B
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for CHMP2B
Genomic location for CHMP2B
Band3p11.2Start87,227,271 bp[1]
End87,255,548 bp[1]
RNA expression pattern
PBB GE CHMP2B 202537 s at fs.png

PBB GE CHMP2B 202536 at fs.png

PBB GE CHMP2B 202538 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001244644
NM_014043

NM_026879

RefSeq (protein)

NP_001231573
NP_054762

NP_081155

Location (UCSC)Chr 3: 87.23 – 87.26 MbChr 16: 65.54 – 65.56 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/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 [1]. In a study of French families with several forms of frontotemporal dementia, it was found to be a relatively rare cause.[7]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000083937 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000004843 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  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. 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.

External links[edit]

Further reading[edit]