InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CHMP2B

Summary

InnateDB Protein

IDBP-45706.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CHMP2B

Protein Name

charged multivesicular body protein 2B

Synonyms

ALS17; CHMP2.5; DMT1; VPS2-2; VPS2B;

Species

Homo sapiens

Ensembl Protein

ENSP00000263780

InnateDB Gene

IDBG-45704 (CHMP2B)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Cytoplasm, cytosol {ECO:0000269PubMed:16041373}. Late endosome membrane {ECO:0000305PubMed:16041373}; Peripheral membrane protein {ECO:0000305PubMed:16041373}.

Disease Associations

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. {ECO:0000269PubMed:16041373}. 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. {ECO:0000269PubMed:16807408, ECO:0000269PubMed:20352044}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:16041373}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.

Experimentally validated
Total	17 [view]
Protein-Protein	16 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0019904	protein domain specific binding

Biological Process

GO:0007034	vacuolar transport
GO:0008219	cell death
GO:0015031	protein transport
GO:0016032	viral process
GO:0016197	endosomal transport
GO:0019058	viral life cycle
GO:0061024	membrane organization

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005739	mitochondrion
GO:0005829	cytosol
GO:0031902	late endosome membrane
GO:0070062	extracellular vesicular exosome