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FLASH GENE
Symbol CHMP2B contributors: mct/pgu - updated : 17-09-2015
HGNC name chromatin modifying protein 2B
HGNC id 24537
Corresponding disease
ALS17 amyotrophic lateral sclerosis 17
FTD3 frontotemporal dementia, chromosome 3-linked
Location 3p11.2      Physical location : 87.276.412 - 87.304.697
Synonym name
  • vacuolar protein sorting 2-2
  • charged multivesicular body protein 2b
  • VPS2 homolog B (S. cerevisiae)
  • Synonym symbol(s) CHMP2.5, CGI-84, DMT1, VPS2-2, DKFZP564O123, VPS2B
    DNA
    TYPE functioning gene
    STRUCTURE 28.28 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2643 - 213 - PMID: 20223751
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
    Endocrineparathyroid   highly
    Lymphoid/Immunelymph node    
    Nervousbrainforebraincerebral lobefrontal lobe  Mus musculus
    Reproductivemale systemprostate  highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Mus musculus
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • coiled-coil domain
  • a Snf-7 domain
  • acidic C-terminal domains, C-terminus is known to be an autoinhibitory domain functioning to prevent self-interaction or abnormal interaction with other components during endosomal trafficking; moreover, the C-terminal MIT domain interacting motif (MIM) can recruit VPS4
  • HOMOLOGY
    interspecies ortholog to yeast Vps2
    Homologene
    FAMILY
  • SNF7 family
  • chromatin-modifying protein/charged multivesicular body protein (CHMP) family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,nucleus
    text
  • detected in neuronal dendrites and spines
  • basic FUNCTION
  • involved in vesicle trafficking
  • required for multivesicular bodies (MVBs)
  • formation and sorting of endosomal cargo proteins into MVBs
  • required for function of the multivesicular body (MVB), an endosomal structure that fuses with the lysosome to degrade endocytosed proteins
  • CHMP2B polymerization scaffolds membranes represents a first step toward demonstrating its structural role during outward membrane deformation
  • involved in the degradation of proteins in the endocytic and autophagic pathways
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    ESCRT-III (CHMP) proteins pathhway
    a component
  • member of ESCRTIII complex (endosomal secretory complex required for transport), which participates in endosomal trafficking
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CENPF, PHGDH, PNMA1, C7orf30
  • CHMP2B is likely one of the most highly regulated cell-autonomous targets of LBX1 in the embryonic neural tube
  • CSNK2A1 is involved in the phosphorylation of the ESCRT-III subunits CHMP3 and CHMP2B, as well as of VPS4B/SKD1, an ATPase that mediates ESCRT-III disassembly
  • is a target of FBXO32-mediated degradation
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FTD3 , ALS17
    Susceptibility
  • to FTD and neurodegenerative disease in a Danish pedigree, not confirmed in an Netherlands series
  • to amyotrophic lateral sclerosis
  • Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS