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

    Gene ID: 25978, updated on 7-Jan-2024

    Summary

    Official Symbol
    CHMP2Bprovided by HGNC
    Official Full Name
    charged multivesicular body protein 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:24537
    See related
    Ensembl:ENSG00000083937 MIM:609512; AllianceGenome:HGNC:24537
    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; FTDALS7
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 27.4), colon (RPKM 24.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CHMP2B in Genome Data Viewer
    Location:
    3p11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (87227309..87255556)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (87301665..87329903)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (87276459..87304706)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20109 Neighboring gene long intergenic non-protein coding RNA 506 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:87245748-87246279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20110 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20114 Neighboring gene microRNA 4795 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14544 Neighboring gene POU class 1 homeobox 1 Neighboring gene keratin 8 pseudogene 25

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp564O123

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cadherin binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in ESCRT III complex disassembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in autophagosome maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in autophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in endosome transport via multivesicular body sorting pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in late endosome to lysosome transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in late endosome to vacuole transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in macroautophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in membrane fission NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in midbody abscission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mitotic metaphase chromosome alignment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in modulation of chemical synaptic transmission IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in multivesicular body assembly NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in multivesicular body assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in multivesicular body sorting pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in multivesicular body-lysosome fusion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in multivesicular body-lysosome fusion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in neuron cellular homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nuclear membrane reassembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nucleus organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in plasma membrane repair IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of centrosome duplication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of modification of postsynaptic structure IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of postsynapse organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in vesicle fusion with vacuole NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in viral budding from plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in viral budding via host ESCRT complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in viral budding via host ESCRT complex IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in viral budding via host ESCRT complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in viral budding via host ESCRT complex TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in viral release from host cell IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in viral release from host cell IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of ESCRT III complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of ESCRT III complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of ESCRT III complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in amphisome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in autophagosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    colocalizes_with endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in kinetochore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in kinetochore microtubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with late endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with lysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in midbody IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in multivesicular body IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in multivesicular body membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of nuclear pore IDA
    Inferred from Direct Assay
    more info
    PubMed 
    colocalizes_with plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    charged multivesicular body protein 2b
    Names
    VPS2 homolog B
    chromatin modifying protein 2B
    vacuolar protein-sorting-associated protein 2-2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      5047..33294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001244644.2NP_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)
      AC130885, AK002165, AK296072, BI821848, BM982148
      Consensus CDS
      CCDS58840.1
      UniProtKB/Swiss-Prot
      Q9UQN3
      UniProtKB/TrEMBL
      B2RE76
      Related
      ENSP00000419998.1, ENST00000471660.5
      Conserved Domains (1) summary
      pfam03357
      Location:2144
      Snf7; Snf7
    2. NM_001410777.1NP_001397706.1  charged multivesicular body protein 2b isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC123511, AC130885
    3. NM_014043.4NP_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) encodes isoform 1.
      Source sequence(s)
      AC130885, BC001553, BM828410, BM982148, DA426159
      Consensus CDS
      CCDS2918.1
      UniProtKB/Swiss-Prot
      B4DJG8, Q53HC7, Q9UQN3, Q9Y4U6
      UniProtKB/TrEMBL
      B2RE76, C9J0A7
      Related
      ENSP00000263780.4, ENST00000263780.9
      Conserved Domains (1) summary
      pfam03357
      Location:16185
      Snf7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      87227309..87255556
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533576.3XP_011531878.1  charged multivesicular body protein 2b isoform X1

      UniProtKB/TrEMBL
      A0A087WW88
      Related
      ENSP00000504098.1, ENST00000676705.1
      Conserved Domains (1) summary
      pfam03357
      Location:32201
      Snf7; Snf7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      87301665..87329903
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346121.1XP_054202096.1  charged multivesicular body protein 2b isoform X1

      UniProtKB/TrEMBL
      A0A087WW88