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

    Gene ID: 25978, updated on 22-Sep-2016
    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
    Location:
    3p11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • 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...
    • Macroautophagy, organism-specific biosystem (from REACTOME)
      Macroautophagy, organism-specific biosystemMacroautophagy (hereafter referred to as autophagy) acts as a buffer against starvation by liberating building materials and energy sources from cellular components. It has additional roles in embryo...
    • 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 biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp564O123

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cadherin binding involved in cell-cell adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    ESCRT III complex disassembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    autophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    cell separation after cytokinesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell-cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    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 
    mitotic metaphase plate congression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    multivesicular body assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    multivesicular body-lysosome fusion TAS
    Traceable Author Statement
    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 
    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 budding via host ESCRT complex TAS
    Traceable Author Statement
    more info
    PubMed 
    viral life cycle TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    ESCRT III complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ESCRT III complex TAS
    Traceable Author Statement
    more info
    PubMed 
    cell-cell adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
     
    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
    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/Swiss-Prot
      Q9UQN3
      UniProtKB/TrEMBL
      B2RE76
      Related
      ENSP00000419998, OTTHUMP00000213812, ENST00000471660, OTTHUMT00000352809
      Conserved Domains (1) summary
      pfam03357
      Location:2144
      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/Swiss-Prot
      Q9UQN3
      UniProtKB/TrEMBL
      B2RE76
      Related
      ENSP00000263780, OTTHUMP00000213795, ENST00000263780, OTTHUMT00000352779
      Conserved Domains (1) summary
      pfam03357
      Location:16185
      Snf7; Snf7

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011533576.2XP_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)
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