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Aliases for CHMP2B Gene

Aliases for CHMP2B Gene

  • Charged Multivesicular Body Protein 2B 2 3
  • Chromatin Modifying Protein 2B 2 3
  • CHMP2.5 3 4
  • VPS2-2 3 4
  • ALS17 3 6
  • VPS2B 3 6
  • DMT1 3 6
  • Vacuolar Protein-Sorting-Associated Protein 2-2 3
  • Vacuolar Protein Sorting-Associated Protein 2-2 4
  • VPS2 Homolog B (S. Cerevisiae) 2
  • Chromatin-Modifying Protein 2b 4
  • VPS2 Homolog B 3
  • HVps2-2 4
  • CHMP2b 4

External Ids for CHMP2B Gene

Summaries for CHMP2B Gene

Entrez Gene Summary for CHMP2B Gene

  • 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]

GeneCards Summary for CHMP2B Gene

CHMP2B (Charged Multivesicular Body Protein 2B) is a Protein Coding gene. Diseases associated with CHMP2B include amyotrophic lateral sclerosis 17 and chmp2b-related frontotemporal dementia. Among its related pathways are Disease and Endocytosis. GO annotations related to this gene include protein domain specific binding. An important paralog of this gene is CHMP2A.

UniProtKB/Swiss-Prot for CHMP2B Gene

  • Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4

Gene Wiki entry for CHMP2B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHMP2B Gene

Genomics for CHMP2B Gene

Genomic Location for CHMP2B Gene

Start:
87,227,263 bp from pter
End:
87,255,548 bp from pter
Size:
28,286 bases
Orientation:
Plus strand

Genomic View for CHMP2B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHMP2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHMP2B Gene

Regulatory Elements for CHMP2B Gene

Proteins for CHMP2B Gene

  • Protein details for CHMP2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQN3-CHM2B_HUMAN
    Recommended name:
    Charged multivesicular body protein 2b
    Protein Accession:
    Q9UQN3
    Secondary Accessions:
    • B4DJG8
    • Q53HC7
    • Q9Y4U6

    Protein attributes for CHMP2B Gene

    Size:
    213 amino acids
    Molecular mass:
    23907 Da
    Quaternary structure:
    • Probable core component of the endosomal sorting required for transport complex III (ESCRT-III). ESCRT-III components are thought to multimerize to form a flat lattice on the perimeter membrane of the endosome. Several assembly forms of ESCRT-III may exist that interact and act sequentally. Interacts with CHMP2A. Interacts with VPS4A. Interacts with VPS4B; the interaction is direct.

    Three dimensional structures from OCA and Proteopedia for CHMP2B Gene

    Alternative splice isoforms for CHMP2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHMP2B Gene

Proteomics data for CHMP2B Gene at MOPED

Post-translational modifications for CHMP2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHMP2B Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CHMP2B Gene

Domains for CHMP2B Gene

Gene Families for CHMP2B Gene

HGNC:
  • CHMP :Charged multivesicular body proteins

Protein Domains for CHMP2B Gene

UniProtKB/Swiss-Prot:

CHM2B_HUMAN
Domain:
  • The acidic C-terminus and the basic N-termminus are thought to render the protein in a closed, soluble and inactive conformation through an autoinhibitory intramolecular interaction. The open and active conformation, which enables membrane binding and oligomerization, is achieved by interaction with other cellular binding partners, probably including other ESCRT components (By similarity).:
    • Q9UQN3
Family:
  • Belongs to the SNF7 family.:
    • Q9UQN3
genes like me logo Genes that share domains with CHMP2B: view

Function for CHMP2B Gene

Molecular function for CHMP2B Gene

UniProtKB/Swiss-Prot Function: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4

Gene Ontology (GO) - Molecular Function for CHMP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21975012
GO:0019904 protein domain specific binding IPI 17928862
genes like me logo Genes that share ontologies with CHMP2B: view

Phenotypes for CHMP2B Gene

GenomeRNAi human phenotypes for CHMP2B:
genes like me logo Genes that share phenotypes with CHMP2B: view

miRNA for CHMP2B Gene

miRTarBase miRNAs that target CHMP2B

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CHMP2B Gene

Localization for CHMP2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHMP2B Gene

Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHMP2B Gene COMPARTMENTS Subcellular localization image for CHMP2B gene
Compartment Confidence
cytosol 5
endosome 5
mitochondrion 4
nucleus 4
lysosome 2
vacuole 2
extracellular 1

Gene Ontology (GO) - Cellular Components for CHMP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000815 ESCRT III complex IDA 24878737
GO:0005622 intracellular IDA --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with CHMP2B: view

Pathways for CHMP2B Gene

genes like me logo Genes that share pathways with CHMP2B: view

Pathways by source for CHMP2B Gene

1 KEGG pathway for CHMP2B Gene

Gene Ontology (GO) - Biological Process for CHMP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000920 cell separation after cytokinesis IMP 20616062
GO:0006997 nucleus organization IMP 20616062
GO:0007032 endosome organization IMP 16041373
GO:0007034 vacuolar transport IEA --
GO:0007080 mitotic metaphase plate congression IMP 20616062
genes like me logo Genes that share ontologies with CHMP2B: view

Transcripts for CHMP2B Gene

Unigene Clusters for CHMP2B Gene

Charged multivesicular body protein 2B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CHMP2B Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b
SP1: -
SP2: - -
SP3: - -
SP4:

Relevant External Links for CHMP2B Gene

GeneLoc Exon Structure for
CHMP2B
ECgene alternative splicing isoforms for
CHMP2B

Expression for CHMP2B Gene

mRNA expression in normal human tissues for CHMP2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHMP2B Gene

SOURCE GeneReport for Unigene cluster for CHMP2B Gene Hs.476930

mRNA Expression by UniProt/SwissProt for CHMP2B Gene

Q9UQN3-CHM2B_HUMAN
Tissue specificity: Widely expressed. Expressed in brain, heart, skeletal muscle, spleen, kidney, liver, small intestine, pancreas, lung, placenta and leukocytes. In brain, it is expressed in cerebellum, cerebral cortex, medulla, spinal chord, occipital lobe, frontal lobe, temporal lobe and putamen.
genes like me logo Genes that share expressions with CHMP2B: view

Orthologs for CHMP2B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHMP2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHMP2B 36
  • 99.53 (n)
  • 100 (a)
CHMP2B 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHMP2B 36
  • 95.62 (n)
  • 99.06 (a)
CHMP2B 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHMP2B 36
  • 94.68 (n)
  • 99.53 (a)
CHMP2B 37
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chmp2b 36
  • 89.51 (n)
  • 99.53 (a)
Chmp2b 16
Chmp2b 37
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHMP2B 37
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHMP2B 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chmp2b 36
  • 89.2 (n)
  • 99.53 (a)
chicken
(Gallus gallus)
Aves CHMP2B 36
  • 85.45 (n)
  • 94.84 (a)
CHMP2B 37
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHMP2B 37
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chmp2b 36
  • 79.03 (n)
  • 91.55 (a)
Str.639 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9872 36
zebrafish
(Danio rerio)
Actinopterygii chmp2ba 37
  • 81 (a)
OneToMany
chmp2bb 36
  • 74.49 (n)
  • 84.51 (a)
chmp2bb 37
  • 84 (a)
OneToMany
Dr.10196 36
fruit fly
(Drosophila melanogaster)
Insecta CHMP2B 36
  • 53.11 (n)
  • 52.75 (a)
CHMP2B 37
  • 48 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C01A2.4 36
  • 53.92 (n)
  • 44.12 (a)
C01A2.4 37
  • 43 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DID4 37
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons VPS2.3 36
  • 48.96 (n)
  • 37.32 (a)
rice
(Oryza sativa)
Liliopsida Os10g0476400 36
  • 53.43 (n)
  • 40.69 (a)
Species with no ortholog for CHMP2B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CHMP2B Gene

ENSEMBL:
Gene Tree for CHMP2B (if available)
TreeFam:
Gene Tree for CHMP2B (if available)

Paralogs for CHMP2B Gene

Paralogs for CHMP2B Gene

Selected SIMAP similar genes for CHMP2B Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CHMP2B: view

Variants for CHMP2B Gene

Sequence variations from dbSNP and Humsavar for CHMP2B Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs10781 -- 87,254,690(+) TGAAT(A/T)AATAA utr-variant-3-prime
rs11426 -- 87,255,410(+) ATTTA(C/T)RTTCT utr-variant-3-prime
rs384094 -- 87,254,436(-) TAGGT(C/T)TGTGC utr-variant-3-prime
rs384381 -- 87,235,932(-) gagtt(C/T)tgaga intron-variant
rs390857 -- 87,254,311(-) GCACT(C/T)TTCTT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CHMP2B Gene

Variant ID Type Subtype PubMed ID
nsv527279 CNV Gain 19592680
nsv877132 CNV Loss 21882294
nsv877133 CNV Loss 21882294
nsv877134 CNV Loss 21882294
nsv877135 CNV Loss 21882294
nsv877136 CNV Gain 21882294

Relevant External Links for CHMP2B Gene

HapMap Linkage Disequilibrium report
CHMP2B
Human Gene Mutation Database (HGMD)
CHMP2B
Locus Specific Mutation Databases (LSDB)
CHMP2B

Disorders for CHMP2B Gene

(2) OMIM Diseases for CHMP2B Gene (609512)

UniProtKB/Swiss-Prot

CHM2B_HUMAN
  • Frontotemporal dementia, chromosome 3-linked (FTD3) [MIM:600795]: Characterized by an onset of dementia in the late 50s initially characterized by behavioral and personality changes including apathy, restlessness, disinhibition and hyperorality, progressing to stereotyped behaviors, non-fluent aphasia, mutism and dystonia, with a marked lack of insight. The brains of individuals with FTD3 have no distinctive neuropathological features. They show global cortical and central atrophy, but no beta-amyloid deposits. {ECO:0000269 PubMed:16041373}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Amyotrophic lateral sclerosis 17 (ALS17) [MIM:614696]: An adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency. {ECO:0000269 PubMed:16807408, ECO:0000269 PubMed:20352044}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CHMP2B

GeneTests
CHMP2B
GeneReviews
CHMP2B
Genetic Association Database (GAD)
CHMP2B
Human Genome Epidemiology (HuGE) Navigator
CHMP2B
genes like me logo Genes that share disorders with CHMP2B: view

Publications for CHMP2B Gene

  1. CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia. (PMID: 16941655) Rizzu P. … van Swieten J.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2006) 3 23 49
  2. Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). (PMID: 20352044) Cox L.E. … Shaw P.J. (PLoS ONE 2010) 3 4 49
  3. Mutations in CHMP2B are not a cause of frontotemporal lobar degeneration in Finnish patients. (PMID: 20412296) Kaivorinne A.L. … Remes A.M. (Eur. J. Neurol. 2010) 3 49
  4. No association of chromatin-modifying protein 2B with sporadic frontotemporal dementia. (PMID: 16979267) Schumacher A. … Riemenschneider M. (Neurobiol. Aging 2007) 3 23
  5. Immunopositivity for ESCRT-III subunit CHMP2B in granulovacuolar degeneration of neurons in the Alzheimer's disease hippocampus. (PMID: 20420883) Yamazaki Y. … Matsumoto M. (Neurosci. Lett. 2010) 3 23

Products for CHMP2B Gene

Sources for CHMP2B Gene

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