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Reviewed August 2010
What is the official name of the CHMP2B gene?
The official name of this gene is “charged multivesicular body protein 2B.”
CHMP2B is the gene's official symbol. The CHMP2B gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CHMP2B gene?
The CHMP2B gene provides instructions for making a protein called charged multivesicular body protein 2B. This protein is active in the brain, where it appears to be essential for the survival of nerve cells (neurons).
Charged multivesicular body protein 2B forms one part (subunit) of a group of proteins known as the ESCRT-III complex. This complex helps transport other proteins from the cell membrane to the interior of the cell, a process known as endocytosis. In particular, the ESCRT-III complex is involved in the endocytosis of proteins that need to be broken down (degraded) by the cell. The complex helps sort these proteins into structures called multivesicular bodies (MVBs), which deliver them to lysosomes. Lysosomes are compartments within cells that digest and recycle many different types of molecules.
Charged multivesicular body protein 2B is regulated by a segment at one end of the protein known as the C-terminal domain. This domain usually keeps the protein turned off (inactive). The inactive protein is unable to interact with other subunits of the ESCRT-III complex, which prevents the complex from forming when it is not needed. The C-terminal domain also plays an important role in disassembling the ESCRT-III complex through its interaction with a protein called vacuolar protein sorting 4 (Vps4).
Does the CHMP2B gene share characteristics with other genes?
The CHMP2B gene belongs to a family of genes called CHMP (charged multivesicular body proteins).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the CHMP2B gene related to health conditions?
Where is the CHMP2B gene located?
Cytogenetic Location: 3p11.2
Molecular Location on chromosome 3: base pairs 87,276,412 to 87,304,697
The CHMP2B gene is located on the short (p) arm of chromosome 3 at position 11.2.
More precisely, the CHMP2B gene is located from base pair 87,276,412 to base pair 87,304,697 on chromosome 3.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CHMP2B?
You and your healthcare professional may find the following resources about CHMP2B helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the CHMP2B gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CHMP2B?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (8 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.