GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneCHMP2B
Other namesDMT1; VPS2B; VPS2-2; CHMP2.5; DKFZp564O123; CHMP2B
Gene namechromatin modifying protein 2B
Gene inheritanceSALS genes
Discovery methodLinkage,Candidate gene
Category 
Chromosome3p12.1
Genomic CoordinatesChr3:87276413-87304698 ( +)
BackgroundIt is expressed in neurons of all major regions of the brain
ResultMutations in this gene result in one form of familial frontotemporal lobar degeneration
Total Mutations6
Total Affected3
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
0330211693

BIOINFORMATICS

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Gen2Phen   LOVD   Orphanet Human Proteome Map Proteomics DB

ANIMAL MODELS

                               

KEY PUBLICATIONS (6)

First_AuthorYearTitlePaper
Blair2008CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosisFull_Paper
Cox2010Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)Full_Paper
Parkinson2006ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)Full_Paper
Parkinson2006ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)Full_Paper
Seleen  Full_Paper
van Blitterswijk2012Genetic overlap between apparently sporadic motor neuron diseasesFull_Paper

GENETIC VARIATIONS

SNP (rs)BasepairpvalueAuthorYearTermPaper
 6375112687302948 Parkinson2006GRCh37ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
 87289899 Parkinson2006GRCh37ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)