RBCC Red Blood Cell Collection

CHM2B_HUMAN

Source: PM19886704
PM23856902
Marked as 'Membrane associated protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: CHMP2B , CGI-84
Protein names and data: CHM2B_HUMAN , Charged multivesicular body protein 2b , CHMP2.5; Chromatin-modifying protein 2b; CHMP2b; Vacuolar protein sorting-associated protein 2-2; Vps2-2; hVps2-2 Lenght: 213 a.a.
Mass: 23907 Da
fasta formatted sequence
Function: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4.
Disease: ( OMIM: 600795 609512 614696 ) Frontotemporal dementia, chromosome 3-linked (FTD3) [MIM:600795]: Characterized by an onset of dementia in the late 50's initially characterized by behavioral and personality changes including apathy, restlessness, disinhibition and hyperorality, progressing to stereotyped behaviors, non-fluent aphasia, mutism and dystonia, with a marked lack of insight. The brains of individuals with FTD3 have no distinctive neuropathological features. They show global cortical and central atrophy, but no beta-amyloid deposits. Note=The disease is caused by mutations affecting the gene represented in this entry. Amyotrophic lateral sclerosis 17 (ALS17) [MIM:614696]: An adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein (Probable).
Tissue specificity: Widely expressed. Expressed in brain, heart, skeletal muscle, spleen, kidney, liver, small intestine, pancreas, lung, placenta and leukocytes. In brain, it is expressed in cerebellum, cerebral cortex, medulla, spinal chord, occipital lobe, frontal lobe, temporal lobe and putamen.

Genetic variants

29 - 29 I -> V (in ALS17; cells expressing the mutant protein have large cytoplasmic vacuoles with an accumulation of the mutant protein on the outer membrane termed halos; cells with the mutant protein also have aberrant localization of CD63 and an increase in MAP1LC3A1 overall indicating a defect in the autophagic pathway). VAR_038373
104 - 104 T -> N (in ALS17; cells expressing the mutant protein have large cytoplasmic vacuoles with an accumulation of the mutant protein on the outer membrane termed halos; cells with the mutant protein also have aberrant localization of CD63 and an increase in MAP1LC3A overall indicating a defect in the autophagic pathway). VAR_068689
148 - 148 D -> Y (in FTD3). VAR_023383
206 - 206 Q -> H (in ALS17; cells expressing the mutant protein have large cytoplasmic vacuoles with an accumulation of the mutant protein on the outer membrane termed halos; cells with the mutant protein also have aberrant localization of CD63 and an increase in MAP1LC3A overall indicating a defect in the autophagic pathway). VAR_038374

Database cross-references

UniProt: Q9UQN3
Ensembl: ENST00000263780
Ensembl: ENST00000471660
MIM: 600795
MIM: 609512
MIM: 614696
neXtProt: NX_Q9UQN3
Antibodypedia: Q9UQN3 (may not find the protein thus also not any antibody)
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