CHMP2B Gene Summary [Human]

This gene encodes a component of the heteromeric ESCRT-III complex (Endosomal Sorting Complex Required for Transport III) that functions in the recycling or degradation of cell surface receptors. ESCRT-III functions in the concentration and invagination of ubiquitinated endosomal cargos into intralumenal vesicles. The protein encoded by this gene is found as a monomer in the cytosol or as an oligomer in ESCRT-III complexes on endosomal membranes. It is expressed in neurons of all major regions of the brain. Mutations in this gene result in one form of familial frontotemporal lobar degeneration. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
CHMP2B
Official Name
charged multivesicular body protein 2B [Source:HGNC Symbol;Acc:HGNC:24537]
Ensembl ID
ENSG00000083937
Bio databases IDs NCBI: 25978 Ensembl: ENSG00000083937
Aliases charged multivesicular body protein 2B, VPS2 homolog B (S. cerevisiae)
Synonyms 1190006E07RIK, ALS17, charged multivesicular body protein 2B, CHMP2.5, DKFZP564O123, DMT1, FTDALS7, RGD1306781, VPS2-2, VPS2B
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CHMP2B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein domain specific binding
  • protein binding
  • Snf7

Pathways

Biological processes and signaling networks where the CHMP2B gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • amyotrophic lateral sclerosis type 17
  • non-insulin-dependent diabetes mellitus
  • peripheral arterial disease
  • periodontitis
  • frontotemporal lobar degeneration
regulated by
role in cell
  • damage in
  • expression in
  • accumulation in
  • damage
  • quantity
  • loss
  • autophagy by
  • density
  • branching
  • assembly

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • glutaminergic synapse
  • somatodendritic region
  • cellular membrane
  • Plasma Membrane
  • endosomes
  • lysosome
  • midbody
  • cytosol
  • lysosome membrane
  • nuclear pores
  • dendritic spines
  • synaptosomes
  • autophagic vacuoles
  • late endosomes
  • multivesicular bodies
  • kinetochore microtubule
  • kinetochores
  • postsynaptic density
  • exosomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CHMP2B gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • membrane fission
  • endosome organization
  • protein transport
  • late endosome to vacuole transport
  • nucleus organization
  • neuron homeostasis
  • release of virus from host
  • regulation of centrosome duplication
  • non-lytic virus budding from plasma membrane
  • cognition
  • plasma membrane repair
  • ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
  • autophagy
  • endosome transport via multivesicular body sorting pathway
  • multivesicular body sorting pathway
  • regulation of synaptic transmission
  • nuclear envelope reassembly
  • mitotic metaphase plate congression
  • macroautophagy
  • vesicle fusion with vacuole

Cellular Component

Where in the cell the gene product is active
  • postsynaptic density
  • ESCRT III complex
  • late endosome
  • multivesicular body
  • kinetochore
  • lysosomal membrane
  • plasma membrane
  • autophagic vacuole membrane
  • nuclear pore
  • lysosome
  • endosome
  • extracellular vesicular exosome
  • cytoplasm
  • kinetochore microtubule
  • cytosol
  • midbody
  • multivesicular body membrane

Molecular Function

What the gene product does at the molecular level
  • protein domain specific binding
  • protein binding
  • cadherin binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.