charged multivesicular body protein 2B
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Diagnostic Grade (Green)
Adult onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAdult onset neurodegenerative disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset dementia (encompassing fronto-temporal dementia and prion disease)
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset dystonia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownAmyotrophic lateral sclerosis/motor neuron disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedChildhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownamyotrophic lateral sclerosis
frontotemporal dementia
behavioral variant of frontotemporal dementia
Dystonia
viral infectious disease
HIV infectious disease
prostate cancer
prostate carcinoma
COVID-19
familial amyotrophic lateral sclerosis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Charged multivesicular body protein 2b
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
Curated MONDO disease pages that list CHMP2B among their top associated genes.
CHMP2B · Q9UQN3
Mean pLDDT
79.5/ 100
Confident
213 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
