CHMP2B
Charged multivesicular body protein 2b
Also known as: CHM2B_HUMAN, CHMP2.5, DKFZP564O123, VPS2B
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UQN3
- Gene
- CHMP2B
- Ensembl
- ENSG00000083937
- Chromosome
- 3
- Canonical length
- 213 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
213 residues, UniProt reviewed canonical sequence.
>Q9UQN3|CHMP2B
1 MASLFKKKTV DDVIKEQNRE LRGTQRAIIR DRAALEKQEK QLELEIKKMA KIGNKEACKV
61 LAKQLVHLRK QKTRTFAVSS KVTSMSTQTK VMNSQMKMAG AMSTTAKTMQ AVNKKMDPQK
121 TLQTMQNFQK ENMKMEMTEE MINDTLDDIF DGSDDEEESQ DIVNQVLDEI GIEISGKMAK
181 APSAARSLPS ASTSKATISD EEIERQLKAL GVDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CHMP2B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.49
- Highest tissue expression
- 51 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 51 nTPM
- thyroid gland: 40 nTPM
- bone marrow: 40 nTPM
- urinary bladder: 40 nTPM
- colon: 39 nTPM
- small intestine: 38 nTPM
Single-cell type
- esophageal apical cells: 649 nCPM
- extravillous trophoblasts: 262 nCPM
- syncytiotrophoblasts: 237 nCPM
- neutrophils: 220 nCPM
- colonocytes: 213 nCPM
- urothelial cells: 203 nCPM
Immune cell
- eosinophil: 137 nTPM
- basophil: 125 nTPM
- neutrophil: 97 nTPM
- non-classical monocyte: 68 nTPM
- intermediate monocyte: 65 nTPM
- myeloid DC: 55 nTPM
Brain region
- white matter: 54 nTPM
- medulla oblongata: 42 nTPM
- spinal cord: 37 nTPM
- cerebellum: 34 nTPM
- pons: 33 nTPM
- midbrain: 32 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CHMP2B.
Disease | AllUniProt
Conditions CHMP2B is implicated in, by any mechanism.
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7) MIM:600795
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 195 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
- Cervical cancer
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.22
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.34
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- autophagosome maturation
- autophagy
- cognition
- endosome organization
- endosome transport via multivesicular body sorting pathway
- ESCRT III complex disassembly
- late endosome to lysosome transport
- late endosome to vacuole transport
- macroautophagy
- membrane fission
- midbody abscission
- mitotic metaphase chromosome alignment
- modulation of chemical synaptic transmission
- multivesicular body assembly
- multivesicular body sorting pathway
- multivesicular body-lysosome fusion
- neuron cellular homeostasis
- nuclear membrane reassembly
- nucleus organization
- plasma membrane repair
- protein transport
- regulation of centrosome duplication
- regulation of mitotic spindle assembly
- regulation of modification of postsynaptic structure
- regulation of postsynapse organization
- ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
- vesicle fusion with vacuole
- viral budding from plasma membrane
- viral budding via host ESCRT complex
- viral release from host cell
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CHMP2B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CHMP2B as an antibody target. Whether an autoantibody or antibody against CHMP2B could matter depends on whether native CHMP2B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CHMP2B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CHMP2B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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