charged multivesicular body protein 2B; CHMP2.5; chromatin-modifying protein 2b; CHMP2b; vacuolar protein sorting-associated protein 2-2; Vps2-2; hVps2-2 (CHMP2B)

Function

• component of ESCRT3 in the multivesicular body pathway
• interacts with CHMP2A
• interacts with VPS4A & VPS4B

Structure

• the acidic C-terminus & the basic N-termminus are thought to render the protein in a closed, soluble & inactive conformation through an autoinhibitory intramolecular interaction
• the open & active conformation, which enables membrane binding & oligomerization, is facilitated by interaction with other ESCRT components (putative)
• belongs to the SNF7 family

Compartment

• cytoplasm, late endosome membrane

Expression

• widely expressed
• expressed in brain, heart, skeletal muscle, spleen, kidney, liver, small intestine, pancreas, lung, placenta, leukocytes
• in CNS, expressed in cerebellum, cerebral cortex, medulla, spinal cord, occipital lobe, frontal lobe, temporal lobe, putamen

Pathology

• defects in CHMP2B are the cause of
  • frontotemporal dementia
  • amyotrophic lateral sclerosis type 17

More general terms

• charged multivesicular body protein (CHMP)
• phosphoprotein

Additional terms

• frontotemporal dementia; frontotemporal lobar degeneration; frontotemporal neurocognitive disorder (FTD, FTLD)

Component of

• endosomal sorting complex required for transport-3 (ESCRT3)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=25978
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:25978
• OMIM: https://mirror.omim.org/entry/600795
• OMIM: https://mirror.omim.org/entry/609512
• OMIM: https://mirror.omim.org/entry/614696
• UniProt: http://www.uniprot.org/uniprot/Q9UQN3.html