CHMP2B

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CHMP2B
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CHMP2B, ALS17, CHMP2.5, DMT1, VPS2-2, VPS2B, charged multivesicular body protein 2B
External IDs MGI: 1916192 HomoloGene: 8534 GeneCards: CHMP2B
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
Species Human Mouse
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 Mb Chr 16: 65.54 – 65.56 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Charged multivesicular body protein 2b is a protein that in humans is encoded by the CHMP2B gene.[3][4]

Mutations of this gene cause chromosome 3-linked frontotemporal dementia (FTD3; OMIM 600795)

In French families with frontotemporal dementia, CHMP2B mutations were found to be a rare cause of the disease.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ "Entrez Gene: CHMP2B chromatin modifying protein 2B". 
  5. ^ 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. PMID 20625756. doi:10.1007/s00415-010-5655-8. 

External links[edit]

Further reading[edit]