CHMP2B

Protein-coding gene in the species Homo sapiens

CHMP2B

Available structures

PDB

Ortholog search: PDBe RCSB

List of PDB id codes
2JQK

Identifiers

Aliases

CHMP2B, ALS17, CHMP2.5, DMT1, VPS2-2, VPS2B, charged multivesicular body protein 2B, FTDALS7

External IDs

OMIM: 609512 MGI: 1916192 HomoloGene: 8534 GeneCards: CHMP2B

Gene location (Human)

Chr.	Chromosome 3 (human)^[1]

Band	3p11.2	Start	87,227,271 bp^[1]
Band	3p11.2	End	87,255,556 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 16 (mouse)^[2]

Band	16\|16 C1.3	Start	65,336,014 bp^[2]
Band	16\|16 C1.3	End	65,359,612 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

internal globus pallidus

amniotic fluid

jejunal mucosa

palpebral conjunctiva

pons

oocyte

secondary oocyte

subthalamic nucleus

germinal epithelium

inferior ganglion of vagus nerve

Top expressed in

spermatocyte

otolith organ

utricle

jejunum

spermatid

left colon

cervix

medullary collecting duct

conjunctival fornix

epithelium of stomach

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	protein domain specific binding protein binding cadherin binding
Cellular component	cytoplasm ESCRT III complex cytosol endosome late endosome late endosome membrane membrane plasma membrane intracellular anatomical structure lysosome extracellular exosome multivesicular body postsynaptic density glutamatergic synapse
Biological process	regulation of centrosome duplication cognition nucleus organization viral life cycle neuron cellular homeostasis multivesicular body assembly regulation of mitotic spindle assembly endosome organization autophagy endosomal transport protein transport septum digestion after cytokinesis mitotic metaphase plate congression vacuolar transport ESCRT III complex disassembly macroautophagy multivesicular body-lysosome fusion transport viral budding via host ESCRT complex endosome transport via multivesicular body sorting pathway late endosome to vacuole transport midbody abscission regulation of modification of postsynaptic structure regulation of postsynapse organization
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


25978


68942

Ensembl


ENSG00000083937


ENSMUSG00000004843

UniProt


Q9UQN3


Q8BJF9

RefSeq (mRNA)


NM_001244644 NM_014043


NM_026879

RefSeq (protein)


NP_001231573 NP_054762


NP_081155

Location (UCSC)

Chr 3: 87.23 – 87.26 Mb

Chr 16: 65.34 – 65.36 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Charged multivesicular body protein 2b is a protein that in humans is encoded by the CHMP2B gene.^[5]^[6] It forms part of one of the endosomal sorting complexes required for transport (ESCRT) - specifically ESCRT-III - which are a series of complexes involved in cell membrane remodelling. CHMP2B forms long chains that spiral around the neck of a budding vesicle. Along with the other components of ESCRT-III, CHMP2B constricts the neck of the vesicle just before it is cleaved away from the membrane.

Mutations of this gene cause chromosome 3-linked frontotemporal dementia (FTD3), which has been described in several members of one Danish family [1]. In a study of French families with several forms of frontotemporal dementia, it was found to be a relatively rare cause.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000083937 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000004843 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Howard TL, Stauffer DR, Degnin CR, Hollenberg SM (Sep 2001). "CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins". J Cell Sci. 114 (Pt 13): 2395–404. doi:10.1242/jcs.114.13.2395. PMID 11559748.
^ "Entrez Gene: CHMP2B chromatin modifying protein 2B".
^ Ghanim M, Guillot-Noel L, Pasquier F, Jornea L, Deramecourt V, Dubois B, Le Ber I, Brice A (July 2010). "CHMP2B mutations are rare in French families with frontotemporal lobar degeneration". J Neurol. 257 (12): 2032–6. doi:10.1007/s00415-010-5655-8. PMID 20625756. S2CID 21422763.

External links

GeneReviews/NCBI/NIH/UW entry on CHMP2B-Related Frontotemporal Dementia
Human CHMP2B genome location and CHMP2B gene details page in the UCSC Genome Browser.
Overview of all the structural information available in the PDB for UniProt: Q9UQN3 (Charged multivesicular body protein 2b) at the PDBe-KB.

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