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

Gene ID: 25978, updated on 1-Aug-2020

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
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]
Expression
Ubiquitous expression in thyroid (RPKM 27.4), colon (RPKM 24.7) and 25 other tissues See more
Orthologs

Genomic context

See CHMP2B in Genome Data Viewer
Location:
3p11.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (87227309..87255556)
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

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp564O123

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding HDA 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 
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 
endosome transport via multivesicular body sorting pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
late endosome to vacuole transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
macroautophagy TAS
Traceable Author Statement
more info
PubMed 
midbody abscission 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
regulation of modification of postsynaptic structure IEA
Inferred from Electronic Annotation
more info
 
regulation of postsynapse organization 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 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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ESCRT III complex IDA
Inferred from Direct Assay
more info
PubMed 
ESCRT III complex TAS
Traceable Author Statement
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 HDA PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
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 
multivesicular body IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_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) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AC130885, BC001553, BM828410, BM982148, DA426159
    Consensus CDS
    CCDS2918.1
    UniProtKB/Swiss-Prot
    Q9UQN3
    UniProtKB/TrEMBL
    B2RE76
    Related
    ENSP00000263780.4, ENST00000263780.9
    Conserved Domains (1) summary
    pfam03357
    Location:16185
    Snf7; Snf7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    pfam03357
    Location:32201
    Snf7; Snf7
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