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

Gene ID: 25978, updated on 23-May-2015
Official Symbol
CHMP2Bprovided by HGNC
Official Full Name
charged multivesicular body protein 2Bprovided by HGNC
Primary source
HGNC:HGNC:24537
See related
Ensembl:ENSG00000083937; HPRD:13174; MIM:609512; Vega:OTTHUMG00000158982
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DMT1; ALS17; VPS2B; VPS2-2; CHMP2.5
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]
Orthologs
See CHMP2B in MapViewer
Location:
3p11.2
Exon count:
7
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 3 NC_000003.12 (87227263..87255548)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (87276413..87304698)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 506 Neighboring gene microRNA 4795 Neighboring gene POU class 1 homeobox 1 Neighboring gene keratin 8 pseudogene 25

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag ALIX, CHMP2A/B, CHMP4A/B, and VPS4A/B proteins are required for the budding of HIV-1 Gag and the HIV-1 infectivity PubMed

Go to the HIV-1, Human Interaction Database

  • Budding and maturation of HIV virion, organism-specific biosystem (from REACTOME)
    Budding and maturation of HIV virion, organism-specific biosystemWith the virus components precariously assembled on the inner leaflet of the plasma membrane, the host cell machinery is required for viral budding. The virus takes advantage of the host ESCRT pathwa...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • ESCRT-III complex, organism-specific biosystem (from KEGG)
    ESCRT-III complex, organism-specific biosystemStructural complex; Genetic information processing; Protein processing
  • ESCRT-III complex, conserved biosystem (from KEGG)
    ESCRT-III complex, conserved biosystemStructural complex; Genetic information processing; Protein processing
  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endosomal Sorting Complex Required For Transport (ESCRT), organism-specific biosystem (from REACTOME)
    Endosomal Sorting Complex Required For Transport (ESCRT), organism-specific biosystemMany plasma membrane proteins are in a constant flux throughout the internal trafficking pathways of the cell. Some receptors are continuously internalized into recycling endosomes and returned to th...
  • HIV Infection, organism-specific biosystem (from REACTOME)
    HIV Infection, organism-specific biosystemThe global pandemic of Human Immunodeficiency Virus (HIV) infection has resulted in tens of millions of people infected by the virus and millions more affected. UNAIDS estimates around 40 million ...
  • HIV Life Cycle, organism-specific biosystem (from REACTOME)
    HIV Life Cycle, organism-specific biosystemThe life cycle of HIV-1 is divided into early and late phases, shown schematically in the figure. In the early phase, an HIV-1 virion binds to receptors and co-receptors on the human host cell surfac...
  • Infectious disease, organism-specific biosystem (from REACTOME)
    Infectious disease, organism-specific biosystem
    Infectious disease
  • Late Phase of HIV Life Cycle, organism-specific biosystem (from REACTOME)
    Late Phase of HIV Life Cycle, organism-specific biosystemThe late phase of the HIV-1 life cycle includes the regulated expression of the HIV gene products and the assembly of viral particles. The assembly of viral particles will be covered in a later relea...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
  • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
    Vesicle-mediated transport, organism-specific biosystem
    Vesicle-mediated transport
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp564O123

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell separation after cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cognition IMP
Inferred from Mutant Phenotype
more info
PubMed 
endosomal transport TAS
Traceable Author Statement
more info
 
endosome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane organization TAS
Traceable Author Statement
more info
 
mitotic metaphase plate congression IMP
Inferred from Mutant Phenotype
more info
PubMed 
neuron cellular homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleus organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of viral release from host cell IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of viral release from host cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
regulation of centrosome duplication IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of mitotic spindle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
vacuolar transport IEA
Inferred from Electronic Annotation
more info
 
viral budding via host ESCRT complex IDA
Inferred from Direct Assay
more info
PubMed 
viral budding via host ESCRT complex IGI
Inferred from Genetic Interaction
more info
PubMed 
viral budding via host ESCRT complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
viral life cycle TAS
Traceable Author Statement
more info
 
viral process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
ESCRT III complex IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
colocalizes_with endosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
intracellular IDA
Inferred from Direct Assay
more info
 
colocalizes_with late endosome IDA
Inferred from Direct Assay
more info
PubMed 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with lysosome IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
colocalizes_with plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
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

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007885.1 RefSeqGene

    Range
    5001..33286
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001244644.1NP_001231573.1  charged multivesicular body protein 2b isoform 2

    See identical proteins and their annotated locations for NP_001231573.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate exon in the 5' coding region, compared to variant 1. The resulting predicted protein (isoform 2) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AK002165, AK296072, BI821848, BM828410, BM982148
    Consensus CDS
    CCDS58840.1
    UniProtKB/TrEMBL
    B2RE76
    UniProtKB/Swiss-Prot
    Q9UQN3
    Related
    ENSP00000419998, OTTHUMP00000213812, ENST00000471660, OTTHUMT00000352809
    Conserved Domains (1) summary
    pfam03357
    Location:2140
    Snf7; Snf7
  2. NM_014043.3NP_054762.2  charged multivesicular body protein 2b isoform 1

    See identical proteins and their annotated locations for NP_054762.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    BC001553, BM828410, BM982148, DA426159
    Consensus CDS
    CCDS2918.1
    UniProtKB/TrEMBL
    B2RE76
    UniProtKB/Swiss-Prot
    Q9UQN3
    Related
    ENSP00000263780, OTTHUMP00000213795, ENST00000263780, OTTHUMT00000352779
    Conserved Domains (1) summary
    pfam03357
    Location:16181
    Snf7; Snf7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p2 Primary Assembly

    Range
    87227263..87255548
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533576.1XP_011531878.1  

    Conserved Domains (1) summary
    pfam03357
    Location:32197
    Snf7; Snf7

Alternate CHM1_1.1

Genomic

  1. NC_018914.2 Alternate CHM1_1.1

    Range
    87228955..87257241
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)