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Aliases for CHMP2A Gene

Aliases for CHMP2A Gene

  • Charged Multivesicular Body Protein 2A 2 3 5
  • Vacuolar Protein Sorting-Associated Protein 2-1 3 4
  • Putative Breast Adenocarcinoma Marker (32kD) 2 3
  • Putative Breast Adenocarcinoma Marker BC-2 3 4
  • Chromatin Modifying Protein 2A 2 3
  • Vps2-1 3 4
  • CHMP2 3 4
  • BC2 3 4
  • VPS2 Homolog A (S. Cerevisiae) 2
  • Chromatin-Modifying Protein 2a 4
  • VPS2 Homolog A 3
  • HVps2-1 4
  • CHMP2a 4
  • VPS2A 3
  • BC-2 3
  • VPS2 3

External Ids for CHMP2A Gene

Previous GeneCards Identifiers for CHMP2A Gene

  • GC19M063755
  • GC19M059062
  • GC19M055373

Summaries for CHMP2A Gene

Entrez Gene Summary for CHMP2A Gene

  • CHMP2A belongs to the chromatin-modifying protein/charged multivesicular body protein (CHMP) family. These proteins are components of ESCRT-III (endosomal sorting complex required for transport III), a complex involved in degradation of surface receptor proteins and formation of endocytic multivesicular bodies (MVBs). Some CHMPs have both nuclear and cytoplasmic/vesicular distributions, and one such CHMP, CHMP1A (MIM 164010), is required for both MVB formation and regulation of cell cycle progression (Tsang et al., 2006 [PubMed 16730941]).[supplied by OMIM, Mar 2008]

GeneCards Summary for CHMP2A Gene

CHMP2A (Charged Multivesicular Body Protein 2A) is a Protein Coding gene. Diseases associated with CHMP2A include Hiv-1. Among its related pathways are HIV Life Cycle and Cellular Senescence (REACTOME). GO annotations related to this gene include protein domain specific binding and phosphatidylcholine binding. An important paralog of this gene is CHMP2B.

UniProtKB/Swiss-Prot for CHMP2A 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 (PubMed:21310966). Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4.

  • (Microbial infection) The ESCRT machinery functions in topologically equivalent membrane fission events, such as the budding of enveloped viruses (HIV-1 and other lentiviruses). Involved in HIV-1 p6- and p9-dependent virus release.

Gene Wiki entry for CHMP2A Gene

Additional gene information for CHMP2A Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHMP2A Gene

Genomics for CHMP2A Gene

Regulatory Elements for CHMP2A Gene

Enhancers for CHMP2A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H058517 2 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +35.4 35420 4 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 SP3 NFYC ZNF324B ZNF446 TRIM28 ZNF134 ZNF549 ZNF417 ZNF606 ZNF135 MZF1 ZNF274
GH19H058580 1.2 Ensembl ENCODE 12.2 -26.1 -26137 1 PKNOX1 ATF1 BRCA1 GTF3C2 ZNF766 ZNF143 ATF7 REST ZNF592 MEF2D TRIM28 ZNF587B ZNF324B ZNF274 ZNF134 ZNF587 CENPBD1P1 ZNF586 ZBTB45 UBE2M
GH19H058522 0.4 dbSUPER 13.1 +32.2 32208 0 ZNF7 TRIM28 CHMP2A UBE2M MZF1 CENPBD1P1 RNU6-1337P ZNF446 ZNF324 ZNF324B PIR40518
GH19H058553 1.4 ENCODE dbSUPER 0.7 -2.0 -1985 7 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A ZFP41 MEF2D TRIM28 ZNF606 MZF1 LOC100128398 ERVK3-1 ZNF134 ZNF417 ZNF329 ZNF324B ZNF418
GH19H058566 0.3 FANTOM5 1.7 -11.8 -11764 0 CHMP2A CENPBD1P1 MZF1-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CHMP2A on UCSC Golden Path with GeneCards custom track

Promoters for CHMP2A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000111891 228 1001 HNRNPUL1 HDGF PKNOX1 ARID4B SIN3A YY1 ZNF207 ZNF143 DEK PAF1

Transcription factor binding sites by QIAGEN in the CHMP2A gene promoter:

Genomic Location for CHMP2A Gene

Chromosome:
19
Start:
58,551,566 bp from pter
End:
58,555,128 bp from pter
Size:
3,563 bases
Orientation:
Minus strand

Genomic View for CHMP2A Gene

Genes around CHMP2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CHMP2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHMP2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CHMP2A Gene

Proteins for CHMP2A Gene

  • Protein details for CHMP2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43633-CHM2A_HUMAN
    Recommended name:
    Charged multivesicular body protein 2a
    Protein Accession:
    O43633
    Secondary Accessions:
    • B2R4W6
    • Q3ZTT0

    Protein attributes for CHMP2A Gene

    Size:
    222 amino acids
    Molecular mass:
    25104 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. In vitro, heteromerizes with CHMP3 (but not CHMP4) to form helical tubular structures that expose membrane-interacting sites on the outside whereas VPS4B can associate on the inside of the tubule. Interacts with CHMP1B, CHMP2B, CHMP3, CHMP4A, CHMP4B, CHMP4C and CHMP5. Interacts with VPS4A; the interaction is direct. Interacts with VPS4B; the interaction is direct. Interacts with MITD1. Interacts with VTA1; the interaction probably involves the open conformation of CHMP2A.
    Miscellaneous:
    • Its overexpression strongly inhibits HIV-1 release.

neXtProt entry for CHMP2A Gene

Post-translational modifications for CHMP2A Gene

  • ISGylated in a CHMP5-dependent manner. Isgylation weakens and inhibits its interactions with VPS4A and VTA1 respectively.
  • Ubiquitination at posLast=5252, Lys64, posLast=8989, posLast=9494, Lys104, posLast=108108, posLast=118118, and posLast=124124
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CHMP2A Gene

Domains & Families for CHMP2A Gene

Gene Families for CHMP2A Gene

Protein Domains for CHMP2A Gene

Suggested Antigen Peptide Sequences for CHMP2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43633

UniProtKB/Swiss-Prot:

CHM2A_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.
  • 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.
Family:
  • Belongs to the SNF7 family.
genes like me logo Genes that share domains with CHMP2A: view

Function for CHMP2A Gene

Molecular function for CHMP2A 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 (PubMed:21310966). Together with SPAST, the ESCRT-III complex promotes nuclear envelope sealing and mitotic spindle disassembly during late anaphase (PubMed:26040712). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4.
UniProtKB/Swiss-Prot Function:
(Microbial infection) The ESCRT machinery functions in topologically equivalent membrane fission events, such as the budding of enveloped viruses (HIV-1 and other lentiviruses). Involved in HIV-1 p6- and p9-dependent virus release.

Gene Ontology (GO) - Molecular Function for CHMP2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 14505570
GO:0019904 protein domain specific binding IPI 17928862
GO:0031210 phosphatidylcholine binding IMP 18687924
genes like me logo Genes that share ontologies with CHMP2A: view
genes like me logo Genes that share phenotypes with CHMP2A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CHMP2A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CHMP2A Gene

Localization for CHMP2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for CHMP2A Gene

Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Note=Localizes to the midbody of dividing cells. Localized in two distinct rings on either side of the Fleming body.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHMP2A gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
endosome 5
plasma membrane 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
  • Nucleus (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHMP2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 colocalizes_with chromatin IMP 28242692
GO:0000815 ESCRT III complex IDA,TAS 20588296
GO:0005622 intracellular IEA --
GO:0005635 nuclear envelope IDA 26040712
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with CHMP2A: view

Pathways & Interactions for CHMP2A Gene

genes like me logo Genes that share pathways with CHMP2A: view

Gene Ontology (GO) - Biological Process for CHMP2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000920 cell separation after cytokinesis IMP 20616062
GO:0006810 transport IEA --
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 CHMP2A: view

No data available for SIGNOR curated interactions for CHMP2A Gene

Drugs & Compounds for CHMP2A Gene

No Compound Related Data Available

Transcripts for CHMP2A Gene

Unigene Clusters for CHMP2A Gene

Charged multivesicular body protein 2A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CHMP2A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CHMP2A Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - -
SP5: - - - -
SP6: - - -
SP7: - -
SP8: - - - -

Relevant External Links for CHMP2A Gene

GeneLoc Exon Structure for
CHMP2A
ECgene alternative splicing isoforms for
CHMP2A

Expression for CHMP2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CHMP2A Gene

mRNA differential expression in normal tissues according to GTEx for CHMP2A Gene

This gene is overexpressed in Whole Blood (x4.7).

Protein differential expression in normal tissues from HIPED for CHMP2A Gene

This gene is overexpressed in Urine (17.8), Peripheral blood mononuclear cells (8.2), and Cervix (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CHMP2A Gene



Protein tissue co-expression partners for CHMP2A Gene

NURSA nuclear receptor signaling pathways regulating expression of CHMP2A Gene:

CHMP2A

SOURCE GeneReport for Unigene cluster for CHMP2A Gene:

Hs.12107

Evidence on tissue expression from TISSUES for CHMP2A Gene

  • Liver(4.6)
  • Blood(4.4)
  • Muscle(4.4)
  • Skin(4.4)
  • Nervous system(3.5)
  • Heart(2.2)
  • Intestine(2.2)
  • Kidney(2.2)
  • Spleen(2.1)
  • Lung(2)
genes like me logo Genes that share expression patterns with CHMP2A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CHMP2A Gene

Orthologs for CHMP2A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHMP2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CHMP2A 33 34
  • 99.55 (n)
rat
(Rattus norvegicus)
Mammalia Chmp2a 33
  • 90.99 (n)
mouse
(Mus musculus)
Mammalia Chmp2a 33 16 34
  • 90.69 (n)
dog
(Canis familiaris)
Mammalia CHMP2A 33 34
  • 90.54 (n)
cow
(Bos Taurus)
Mammalia CHMP2A 33 34
  • 88.59 (n)
chicken
(Gallus gallus)
Aves -- 34
  • 85 (a)
OneToMany
CHMP2A 33
  • 80.61 (n)
-- 34
  • 78 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia CHMP2A 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia chmp2a 33
  • 77.12 (n)
Str.7485 33
zebrafish
(Danio rerio)
Actinopterygii bc2 34 33
  • 73.79 (n)
OneToOne
Dr.2361 33
fruit fly
(Drosophila melanogaster)
Insecta vps2 34 33
  • 72.77 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001285 33
  • 72.08 (n)
worm
(Caenorhabditis elegans)
Secernentea vps-2 34 33
  • 66.67 (n)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR002C 33
  • 55.37 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B13343g 33
  • 55.37 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DID4 33 34 36
  • 52.28 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons VPS2.1 33
  • 62.61 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2446 33
rice
(Oryza sativa)
Liliopsida Os07g0236800 33
  • 63.24 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.7386 33
wheat
(Triticum aestivum)
Liliopsida Ta.2133 33
corn
(Zea mays)
Liliopsida Zm.5893 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 68 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU00435 33
  • 58.29 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes did4 33
  • 48.17 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3979 33
Species where no ortholog for CHMP2A was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for CHMP2A Gene

ENSEMBL:
Gene Tree for CHMP2A (if available)
TreeFam:
Gene Tree for CHMP2A (if available)

Paralogs for CHMP2A Gene

Paralogs for CHMP2A Gene

(4) SIMAP similar genes for CHMP2A Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CHMP2A: view

Variants for CHMP2A Gene

Sequence variations from dbSNP and Humsavar for CHMP2A Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000133837 -- 58,555,279(+) CAAGC(A/C)AGTAC downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime
rs1000273072 -- 58,551,367(+) TTGGG(A/G)GAGGT downstream-variant-500B
rs1002136063 -- 58,553,557(+) CAGTA(C/G)AGACG intron-variant
rs1002232576 -- 58,553,818(+) CTTAA(A/C)ACATT intron-variant
rs1002285561 -- 58,555,552(+) AGTCA(A/T)GGTAT downstream-variant-500B, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for CHMP2A Gene

Variant ID Type Subtype PubMed ID
dgv3687n100 CNV gain 25217958
dgv3688n100 CNV gain 25217958
nsv1057077 CNV gain 25217958
nsv1057206 CNV gain 25217958
nsv1160670 CNV deletion 26073780
nsv515731 CNV gain+loss 19592680
nsv820066 CNV loss 19587683
nsv828657 CNV gain 20364138
nsv952156 CNV deletion 24416366

Variation tolerance for CHMP2A Gene

Residual Variation Intolerance Score: 27.6% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CHMP2A Gene

Human Gene Mutation Database (HGMD)
CHMP2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHMP2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHMP2A Gene

Disorders for CHMP2A Gene

MalaCards: The human disease database

(1) MalaCards diseases for CHMP2A Gene - From: GeneCards

Disorder Aliases PubMed IDs
hiv-1
  • aids, slow progression to
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for CHMP2A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CHMP2A
genes like me logo Genes that share disorders with CHMP2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CHMP2A Gene

Publications for CHMP2A Gene

  1. Helical structures of ESCRT-III are disassembled by VPS4. (PMID: 18687924) Lata S … Weissenhorn W (Science (New York, N.Y.) 2008) 3 4 22 60
  2. Novel interactions of ESCRT-III with LIP5 and VPS4 and their implications for ESCRT-III disassembly. (PMID: 18385515) Shim S … Hanson PI (Molecular biology of the cell 2008) 3 4 22 60
  3. CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins. (PMID: 11559748) Howard TL … Hollenberg SM (Journal of cell science 2001) 2 3 4 60
  4. Spastin and ESCRT-III coordinate mitotic spindle disassembly and nuclear envelope sealing. (PMID: 26040712) Vietri M … Stenmark H (Nature 2015) 3 4 60
  5. Mechanism of inhibition of retrovirus release from cells by interferon-induced gene ISG15. (PMID: 21543490) Kuang Z … Leis J (Journal of virology 2011) 3 4 60

Products for CHMP2A Gene

Sources for CHMP2A Gene

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