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CHMP2B charged multivesicular body protein 2B [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001244644 Homo sapiens charged multivesicular body protein 2B (CHMP2B), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $399.00 14
NM_014043 Homo sapiens charged multivesicular body protein 2B (CHMP2B), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $399.00 14

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Gene Symbol CHMP2B
Entrez Gene ID 25978
Full Name charged multivesicular body protein 2B
Synonyms ALS17, CHMP2.5, DMT1, VPS2-2, VPS2B
General protein information
Preferred Names
charged multivesicular body protein 2b
Names
charged multivesicular body protein 2b
VPS2 homolog B
chromatin modifying protein 2B
vacuolar protein-sorting-associated protein 2-2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

3

3p11.2

Summary 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].
Disorder

MIM: 609512

Dementia, familial, nonspecific, 600795 (3); Amyotrophic lateral

mRNA Protein Product Sequence Price Select
NM_001244644, 347582618 NP_001231573, 347582619 charged multivesicular body protein 2b isoform 2 ORF Sequence $250.00
NM_014043, 170650589 NP_054762, 40254866 charged multivesicular body protein 2b isoform 1 ORF Sequence $250.00
KEGG
hsa04144Endocytosis
hsa_M00412ESCRT-III complex
Reactome
REACT_6256HIV Life Cycle
REACT_6359Budding and maturation of HIV virion
REACT_6185HIV Infection
REACT_6361Late Phase of HIV Life Cycle
REACT_11123Membrane Trafficking
REACT_27258Endosomal Sorting Complex Required For Transport (ESCRT)
REACT_116125Disease
Homo sapiens (human)CHMP2BNP_054762.2
Pan troglodytes (chimpanzee)CHMP2BXP_003950194.1
Macaca mulatta (Rhesus monkey)CHMP2BXP_001104518.1
Canis lupus familiaris (dog)CHMP2BXP_544799.3
Bos taurus (cattle)CHMP2BNP_001030549.1
Mus musculus (house mouse)Chmp2bNP_081155.1
Rattus norvegicus (Norway rat)Chmp2bXP_343996.5
Gallus gallus (chicken)CHMP2BNP_001025963.1
Danio rerio (zebrafish)chmp2bbNP_998069.1
Drosophila melanogaster (fruit fly)CHMP2BNP_647947.1
Caenorhabditis elegansC01A2.4NP_493357.2
Arabidopsis thaliana (thale cress)VPS2.3NP_563696.1
Xenopus (Silurana) tropicalis (western clawed frog)chmp2bNP_998866.1
Process
IDNameEvidence
GO:0008219cell deathIEA
GO:0015031protein transportIEA
GO:0016032viral processTAS
GO:0016197endosomal transportTAS
GO:0019058viral life cycleTAS
GO:0061024membrane organizationTAS
Component
IDNameEvidence
GO:0005622intracellularIDA
GO:0005634nucleusIDA
GO:0005737cytoplasmIDA
GO:0005739mitochondrionIDA
GO:0005829cytosolTAS
GO:0031902late endosome membraneIEA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0019904protein domain specific bindingIPI
GeneCards CHMP2B
UniProt Q9UQN3, B2RE76
Vega OTTHUMG00000158982
MIM 609512
Ensembl ENSG00000083937
HGNC 24537
HPRD 13174

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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).

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