Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CHMP2B Gene

Aliases for CHMP2B Gene

  • Charged Multivesicular Body Protein 2B 2 3 5
  • Chromatin Modifying Protein 2B 2 3
  • CHMP2.5 3 4
  • VPS2-2 3 4
  • 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
  • ALS17 3
  • VPS2B 3
  • DMT1 3

External Ids for CHMP2B Gene

Previous GeneCards Identifiers for CHMP2B Gene

  • GC03P087360

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 dementia, familial, nonspecific and amyotrophic lateral sclerosis 17. Among its related pathways are Endocytosis and Cytoskeletal Signaling. 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

Regulatory Elements for CHMP2B Gene

Enhancers for CHMP2B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CHMP2B on UCSC Golden Path with GeneCards custom track

Promoters for CHMP2B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CHMP2B on UCSC Golden Path with GeneCards custom track

Genomic Location for CHMP2B Gene

Chromosome:
3
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

Genes around CHMP2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHMP2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHMP2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CHMP2B (CHMP2B)

No data available for DME Specific Peptides for CHMP2B Gene

Domains & Families for CHMP2B Gene

Gene Families for CHMP2B Gene

Protein Domains for CHMP2B Gene

Graphical View of Domain Structure for InterPro Entry

Q9UQN3

UniProtKB/Swiss-Prot:

CHM2B_HUMAN :
  • 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).
  • Belongs to the SNF7 family.
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).
Family:
  • Belongs to the SNF7 family.
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.
genes like me logo Genes that share phenotypes with CHMP2B: view

Human Phenotype Ontology for CHMP2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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
extracellular 5
mitochondrion 5
nucleus 5
lysosome 2
vacuole 2

Gene Ontology (GO) - Cellular Components for CHMP2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005768 colocalizes_with endosome IDA 24878737
GO:0031902 late endosome membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with CHMP2B: view

Pathways & Interactions 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:0006914 autophagy TAS 17683935
GO:0006997 nucleus organization IMP 20616062
GO:0007034 vacuolar transport IEA --
GO:0007080 mitotic metaphase plate congression IMP 20616062
GO:0010824 regulation of centrosome duplication IMP 20616062
genes like me logo Genes that share ontologies with CHMP2B: view

No data available for SIGNOR curated interactions for CHMP2B Gene

Drugs & Compounds for CHMP2B Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for CHMP2B Gene

This gene is overexpressed in Breast (29.5) and Urine (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CHMP2B: view

Protein tissue co-expression partners for CHMP2B Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CHMP2B Gene

Orthologs for CHMP2B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHMP2B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CHMP2B 35
  • 95.62 (n)
  • 99.06 (a)
CHMP2B 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHMP2B 35
  • 94.68 (n)
  • 99.53 (a)
CHMP2B 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chmp2b 35
  • 89.51 (n)
  • 99.53 (a)
Chmp2b 16
Chmp2b 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CHMP2B 35
  • 99.53 (n)
  • 100 (a)
CHMP2B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chmp2b 35
  • 89.2 (n)
  • 99.53 (a)
oppossum
(Monodelphis domestica)
Mammalia CHMP2B 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHMP2B 36
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves CHMP2B 35
  • 85.45 (n)
  • 94.84 (a)
CHMP2B 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHMP2B 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chmp2b 35
  • 79.03 (n)
  • 91.55 (a)
Str.639 35
zebrafish
(Danio rerio)
Actinopterygii chmp2bb 35
  • 74.49 (n)
  • 84.51 (a)
Dr.10196 35
chmp2ba 36
  • 81 (a)
OneToMany
chmp2bb 36
  • 84 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9872 35
fruit fly
(Drosophila melanogaster)
Insecta CHMP2B 35
  • 53.11 (n)
  • 52.75 (a)
CHMP2B 36
  • 48 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C01A2.4 35
  • 53.92 (n)
  • 44.12 (a)
C01A2.4 36
  • 43 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DID4 36
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons VPS2.3 35
  • 48.96 (n)
  • 37.32 (a)
rice
(Oryza sativa)
Liliopsida Os10g0476400 35
  • 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

(2) 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
VAR_023383 Frontotemporal dementia, chromosome 3-linked (FTD3)
VAR_038373 Amyotrophic lateral sclerosis 17 (ALS17)
VAR_038374 Amyotrophic lateral sclerosis 17 (ALS17)
VAR_068689 Amyotrophic lateral sclerosis 17 (ALS17)
rs10781 -- 87,254,690(+) TGAAT(A/T)AATAA 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

Variation tolerance for CHMP2B Gene

Residual Variation Intolerance Score: 40.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHMP2B Gene

HapMap Linkage Disequilibrium report
CHMP2B
Human Gene Mutation Database (HGMD)
CHMP2B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHMP2B Gene

Disorders for CHMP2B Gene

MalaCards: The human disease database

(14) MalaCards diseases for CHMP2B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dementia, familial, nonspecific
  • frontotemporal dementia, chromosome 3-linked
amyotrophic lateral sclerosis 17
  • amyotrophic lateral sclerosis type 17
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
mutism
dementia
  • presenile dementia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CHM2B_HUMAN
  • 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.
  • 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.

Relevant External Links for CHMP2B

Genetic Association Database (GAD)
CHMP2B
Human Genome Epidemiology (HuGE) Navigator
CHMP2B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHMP2B
genes like me logo Genes that share disorders with CHMP2B: view

No data available for Genatlas for CHMP2B Gene

Publications for CHMP2B Gene

  1. 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 48 67
  2. 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
  3. No association of chromatin-modifying protein 2B with sporadic frontotemporal dementia. (PMID: 16979267) Schumacher A. … Riemenschneider M. (Neurobiol. Aging 2007) 3 23
  4. 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
  5. CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins. (PMID: 11559748) Howard T.L. … Hollenberg S.M. (J. Cell Sci. 2001) 2 3

Products for CHMP2B Gene

Sources for CHMP2B Gene

Content