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 a) frontotemporal dementia b) amyotrophic lateral sclerosis type 17

Related

charged multivesicular body protein 2B gene (CHMP2b) frontotemporal dementia; frontotemporal lobar degeneration; frontotemporal neurocognitive disorder (FTD, FTLD)

General

charged multivesicular body protein (CHMP) phosphoprotein

Properties

SIZE: entity length = 213 aa MW = 24 kD COMPARTMENT: cytoplasm MOTIF: coiled coil {25-55} Ser phosphorylation site {S199} MIT-interacting {201-211}

Database Correlations

OMIM correlations MORBIDMAP 609512 UniProt Q9UQN3 Pfam PF03357 Entrez Gene 25978 Kegg hsa:25978

References

UniProt :accession Q9UQN3