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Aliases for CHMP4B Gene

Aliases for CHMP4B Gene

  • Charged Multivesicular Body Protein 4B 2 3
  • Vacuolar Protein Sorting-Associated Protein 32-2 3 4
  • SNF7 Homolog Associated With Alix 1 3 4
  • Chromatin Modifying Protein 4B 2 3
  • Chromatin-Modifying Protein 4b 3 4
  • C20orf178 3 4
  • HVps32-2 3 4
  • CTRCT31 3 6
  • Vps32-2 3 4
  • HSnf7-2 3 4
  • SNF7-2 3 4
  • Shax1 3 4
  • CTPP3 3 6
  • SNF7 3 6
  • Vacuolar Protein-Sorting-Associated Protein 32-2 3
  • Snf7 Homologue Associated With Alix 1 3
  • Chromosome 20 Open Reading Frame 178 2
  • DJ553F4.4 3
  • CHMP4B 4
  • CHMP4a 3
  • VPS32B 3

External Ids for CHMP4B Gene

Previous HGNC Symbols for CHMP4B Gene

  • C20orf178

Previous GeneCards Identifiers for CHMP4B Gene

  • GC20P031863
  • GC20P032399
  • GC20P029183

Summaries for CHMP4B Gene

Entrez Gene Summary for CHMP4B Gene

  • This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.[provided by RefSeq, Oct 2009]

GeneCards Summary for CHMP4B Gene

CHMP4B (Charged Multivesicular Body Protein 4B) is a Protein Coding gene. Diseases associated with CHMP4B include cataract 31, multiple types and posterior polar cataract. Among its related pathways are Disease and Endocytosis. An important paralog of this gene is CHMP4A.

UniProtKB/Swiss-Prot for CHMP4B 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. When overexpressed, membrane-assembled circular arrays of CHMP4B filaments can promote or stabilize negative curvature and outward budding. Via its interaction with PDCD6IP involved in HIV-1 p6- and p9-dependent virus release.

Gene Wiki entry for CHMP4B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHMP4B Gene

Genomics for CHMP4B Gene

Regulatory Elements for CHMP4B Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CHMP4B Gene

Start:
33,811,304 bp from pter
End:
33,854,367 bp from pter
Size:
43,064 bases
Orientation:
Plus strand

Genomic View for CHMP4B Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CHMP4B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHMP4B Gene

Proteins for CHMP4B Gene

  • Protein details for CHMP4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H444-CHM4B_HUMAN
    Recommended name:
    Charged multivesicular body protein 4b
    Protein Accession:
    Q9H444
    Secondary Accessions:
    • E1P5N4
    • Q53ZD6

    Protein attributes for CHMP4B Gene

    Size:
    224 amino acids
    Molecular mass:
    24950 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 CHMP6 and CHMP4C. Interacts with PDCD6IP; the interaction is direct. Interacts with VPS4A; the interaction is direct. Interacts with VPS4B; the interaction is direct. Interacts with CHMP7. Interacts with CFTR; the interaction requires misfolded CFTR. Interacts with PTPN23.
    Miscellaneous:
    • Its overexpression strongly inhibits HIV-1 release

    Three dimensional structures from OCA and Proteopedia for CHMP4B Gene

neXtProt entry for CHMP4B Gene

Proteomics data for CHMP4B Gene at MOPED

Post-translational modifications for CHMP4B Gene

  • ISGylated. Isgylation weakens its interaction with VPS4A.
  • Ubiquitination at Lys6 and Lys107
  • Modification sites at PhosphoSitePlus

Other Protein References for CHMP4B Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for CHMP4B Gene

Domains for CHMP4B Gene

Gene Families for CHMP4B Gene

HGNC:
  • CHMP :Charged multivesicular body proteins

Protein Domains for CHMP4B Gene

Suggested Antigen Peptide Sequences for CHMP4B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H444

UniProtKB/Swiss-Prot:

CHM4B_HUMAN :
  • Q9H444
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
Family:
  • Belongs to the SNF7 family.
genes like me logo Genes that share domains with CHMP4B: view

Function for CHMP4B Gene

Molecular function for CHMP4B 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. When overexpressed, membrane-assembled circular arrays of CHMP4B filaments can promote or stabilize negative curvature and outward budding. Via its interaction with PDCD6IP involved in HIV-1 p6- and p9-dependent virus release.

Gene Ontology (GO) - Molecular Function for CHMP4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12860994
GO:0042802 identical protein binding IDA 18209100
GO:0042803 protein homodimerization activity IPI 14519844
genes like me logo Genes that share ontologies with CHMP4B: view

Phenotypes for CHMP4B Gene

MGI mutant phenotypes for CHMP4B:
inferred from 1 alleles
GenomeRNAi human phenotypes for CHMP4B:
genes like me logo Genes that share phenotypes with CHMP4B: view

Animal Model Products

CRISPR Products

miRNA for CHMP4B Gene

miRTarBase miRNAs that target CHMP4B

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CHMP4B Gene

Localization for CHMP4B Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHMP4B Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CHMP4B Gene COMPARTMENTS Subcellular localization image for CHMP4B gene
Compartment Confidence
cytosol 5
endosome 5
mitochondrion 2
vacuole 2
lysosome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CHMP4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000815 ESCRT III complex IDA 21975012
GO:0005634 nucleus IDA 21975012
GO:0005737 cytoplasm IDA 17701905
GO:0005768 endosome IDA 17701905
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CHMP4B: view

Pathways for CHMP4B Gene

genes like me logo Genes that share pathways with CHMP4B: view

Pathways by source for CHMP4B Gene

Gene Ontology (GO) - Biological Process for CHMP4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000920 cell separation after cytokinesis IMP 20616062
GO:0006620 posttranslational protein targeting to membrane IMP 21975012
GO:0006997 nucleus organization IMP 20616062
GO:0007034 vacuolar transport IEA --
GO:0007080 mitotic metaphase plate congression IMP 20616062
genes like me logo Genes that share ontologies with CHMP4B: view

Transcripts for CHMP4B Gene

mRNA/cDNA for CHMP4B Gene

(308) Selected AceView cDNA sequences:
(4) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CHMP4B Gene

Charged multivesicular body protein 4B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CHMP4B

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CHMP4B Gene

No ASD Table

Relevant External Links for CHMP4B Gene

GeneLoc Exon Structure for
CHMP4B
ECgene alternative splicing isoforms for
CHMP4B

Expression for CHMP4B Gene

mRNA expression in normal human tissues for CHMP4B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CHMP4B Gene

SOURCE GeneReport for Unigene cluster for CHMP4B Gene Hs.472471

mRNA Expression by UniProt/SwissProt for CHMP4B Gene

Q9H444-CHM4B_HUMAN
Tissue specificity: Widely expressed. Expressed at higher level in heart and skeletal muscle. Also expressed in brain, colon, thymus, spleen, kidney, liver, small intestine, placenta, lung and peripheral blood lymphocytes.
genes like me logo Genes that share expressions with CHMP4B: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CHMP4B Gene

Orthologs for CHMP4B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHMP4B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHMP4B 35
  • 98.21 (n)
  • 97.31 (a)
CHMP4B 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CHMP4B 35
  • 93.9 (n)
  • 97.32 (a)
CHMP4B 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CHMP4B 35
  • 93.9 (n)
  • 97.77 (a)
CHMP4B 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Chmp4b 35
  • 91.96 (n)
  • 99.55 (a)
Chmp4b 16
Chmp4b 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CHMP4B 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CHMP4B 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Chmp4bl1 35
  • 91.22 (n)
  • 97.32 (a)
chicken
(Gallus gallus)
Aves CHMP4B 35
  • 82.36 (n)
  • 91.93 (a)
CHMP4B 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CHMP4B 36
  • 89 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.28742 35
tropical clawed frog
(Silurana tropicalis)
Amphibia chmp4b 35
  • 77.93 (n)
  • 88.13 (a)
Str.6947 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6297 35
zebrafish
(Danio rerio)
Actinopterygii chmp4b 36
  • 81 (a)
OneToMany
CHMP4B (2 of 2) 36
  • 84 (a)
OneToMany
zgc56112 35
zgc:56112 35
  • 75.8 (n)
  • 85.39 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005316 35
  • 66.21 (n)
  • 67.43 (a)
fruit fly
(Drosophila melanogaster)
Insecta shrb 35
  • 63.59 (n)
  • 61.75 (a)
shrb 36
  • 57 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vps-32.1 36
  • 61 (a)
ManyToMany
vps-32.2 36
  • 55 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR209W 35
  • 53.37 (n)
  • 43.35 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNF7 35
  • 47.74 (n)
  • 42.19 (a)
SNF7 36
  • 38 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F17820g 35
  • 47.52 (n)
  • 43.07 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons SNF7.1 35
  • 49.54 (n)
  • 44.2 (a)
rice
(Oryza sativa)
Liliopsida Os09g0267600 35
  • 48.31 (n)
  • 43.85 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01282 35
  • 50.17 (n)
  • 39.8 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vps32 35
  • 53.4 (n)
  • 47.64 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6410 36
  • 53 (a)
OneToMany
Species with no ortholog for CHMP4B:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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 CHMP4B Gene

ENSEMBL:
Gene Tree for CHMP4B (if available)
TreeFam:
Gene Tree for CHMP4B (if available)

Paralogs for CHMP4B Gene

Paralogs for CHMP4B Gene

Selected SIMAP similar genes for CHMP4B Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for CHMP4B Gene

genes like me logo Genes that share paralogs with CHMP4B: view

Variants for CHMP4B Gene

Sequence variations from dbSNP and Humsavar for CHMP4B Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs736953 -- 33,827,283(+) GGGAA(G/T)ATGGA intron-variant
rs1810534 -- 33,849,336(+) GCTCA(C/T)GCCTA intron-variant
rs2092737 -- 33,840,329(+) GAAAG(A/C)GAGGC intron-variant
rs2103804 -- 33,837,597(+) ACATT(C/T)TAACT intron-variant
rs2378024 -- 33,851,476(+) TCTGT(C/G)TAGAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CHMP4B Gene

Variant ID Type Subtype PubMed ID
nsv833961 CNV Loss 17160897
nsv518926 CNV Gain 19592680
nsv470548 CNV Gain 18288195
nsv458965 CNV Gain 19166990

Relevant External Links for CHMP4B Gene

HapMap Linkage Disequilibrium report
CHMP4B
Human Gene Mutation Database (HGMD)
CHMP4B
Locus Specific Mutation Databases (LSDB)
CHMP4B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHMP4B Gene

Disorders for CHMP4B Gene

(1) OMIM Diseases for CHMP4B Gene (610897)

UniProtKB/Swiss-Prot

CHM4B_HUMAN
  • Cataract 31, multiple types (CTRCT31) [MIM:605387]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT31 includes posterior polar, progressive posterior subcapsular, nuclear, and anterior subcapsular cataracts. {ECO:0000269 PubMed:17701905}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for CHMP4B Gene

genes like me logo Genes that share disorders with CHMP4B: view

Publications for CHMP4B Gene

  1. CHMP4b is a major binding partner of the ALG-2-interacting protein Alix among the three CHMP4 isoforms. (PMID: 14678797) Katoh K. … Maki M. (Arch. Biochem. Biophys. 2004) 2 3 4 23
  2. CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. (PMID: 17701905) Shiels A. … Hanson P.I. (Am. J. Hum. Genet. 2007) 3 4 23
  3. Plasma membrane deformation by circular arrays of ESCRT-III protein filaments. (PMID: 18209100) Hanson P.I. … Heuser J.E. (J. Cell Biol. 2008) 3 4 23
  4. Structure and function of human Vps20 and Snf7 proteins. (PMID: 14583093) Peck J.W. … Burbelo P.D. (Biochem. J. 2004) 3 4 23
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4

Products for CHMP4B Gene

Sources for CHMP4B Gene

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