CHMP2B

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Charged multivesicular body protein 2B
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CHMP2B ; ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B
External IDs OMIM609512 HomoloGene8534 GeneCards: CHMP2B Gene
RNA expression pattern
PBB GE CHMP2B 202536 at tn.png
PBB GE CHMP2B 202537 s at tn.png
PBB GE CHMP2B 202538 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 25978 68942
Ensembl ENSG00000083937 ENSMUSG00000004843
UniProt Q9UQN3 Q8BJF9
RefSeq (mRNA) NM_001244644 NM_026879
RefSeq (protein) NP_001231573 NP_081155
Location (UCSC) Chr 3:
87.28 – 87.3 Mb
Chr 16:
65.54 – 65.56 Mb
PubMed search [1] [2]

Charged multivesicular body protein 2b is a protein that in humans is encoded by the CHMP2B gene.[1][2]

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.[3]

References[edit]

  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[edit]

Further reading[edit]