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CHMP2A Gene

protein-coding   GIFtS: 62
GCID: GC19M059062

Charged Multivesicular Body Protein 2A

(Previous name: chromatin modifying protein 2A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Charged Multivesicular Body Protein 2A1 2     VPS2 Homolog A (S. Cerevisiae)1
BC22 3 5     BC-22
Chromatin Modifying Protein 2A1 2     VPS2 Homolog A2
Putative Breast Adenocarcinoma Marker (32kD)1 2     vps2-12
Putative Breast Adenocarcinoma Marker BC-22 3     CHMP2a3
Vacuolar Protein Sorting-Associated Protein 2-12 3     Vps2-13
CHMP22 3     Chromatin-Modifying Protein 2a3
VPS22 5     hVps2-13
VPS2A2 5     

External Ids:    HGNC: 302161   Entrez Gene: 272432   Ensembl: ENSG000001307247   OMIM: 6108935   UniProtKB: O436333   

Export aliases for CHMP2A gene to outside databases

Previous GC identifers: GC19M063755 GC19M055373


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 fibrosarcomatous osteosarcoma, and breast adenocarcinoma. GO annotations related to this gene include protein domain specific binding. An important paralog of this gene is CHMP2B.

UniProtKB/Swiss-Prot: CHM2A_HUMAN, O43633
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. Involved in HIV-1 p6- and
p9-dependent virus release

Gene Wiki entry for CHMP2A Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHMP2A gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHMP2A promoter sequence
   Search Chromatin IP Primers for CHMP2A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHMP2A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q   Ensembl cytogenetic band:  19q13.43   HGNC cytogenetic band: 19q13.43

CHMP2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHMP2A gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M059062:  view genomic region     (about GC identifiers)

Start:
59,062,933 bp from pter      End:
59,066,491 bp from pter
Size:
3,559 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CHM2A_HUMAN, O43633 (See protein sequence)
Recommended Name: Charged multivesicular body protein 2a  
Size: 222 amino acids; 25104 Da
Subunit: 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
Secondary accessions: B2R4W6 Q3ZTT0

Explore the universe of human proteins at neXtProt for CHMP2A: NX_O43633

Explore proteomics data for CHMP2A at MOPED

Post-translational modifications: 

  • ISGylated in a CHMP5-dependent manner. Isgylation weakens and inhibits its interactions with VPS4A and VTA1
    respectively1
  • Ubiquitination2 at Lys52, Lys64, Lys89, Lys94, Lys104, Lys108, Lys118, Lys124
  • Modification sites at PhosphoSitePlus

  • See CHMP2A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_055268.1  NP_940818.1  

    ENSEMBL proteins: 
     ENSP00000472097   ENSP00000469240   ENSP00000472680   ENSP00000310440   ENSP00000471961  
     ENSP00000469453  
    Reactome Protein details: O43633

    CHMP2A Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CHMP: Charged multivesicular body proteins

    1 InterPro protein domain:
     IPR005024 Snf7

    Graphical View of Domain Structure for InterPro Entry O43633

    ProtoNet protein and cluster: O43633

    1 Blocks protein domain: IPB005024 Eukaryotic protein of unknown function DUF279

    UniProtKB/Swiss-Prot: CHM2A_HUMAN, O43633
    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
    Similarity: Belongs to the SNF7 family


    CHMP2A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHM2A_HUMAN, O43633
    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. Involved in HIV-1 p6- and
    p9-dependent virus release

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19129480
    GO:0019904protein domain specific binding IPI17928862
         
    CHMP2A for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for CHMP2A:
     Decreased Hepatitis C virus re  Decreased viability with cispl  Increased gamma-H2AX phosphory 

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CHM2A_HUMAN, O43633: 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: 

    CompartmentConfidence
    endosome5
    cytosol4
    nucleus2
    extracellular1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0031902late endosome membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    CHMP2A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CHMP2A About    
    See pathways by source

    SuperPathContained pathways About
    1HIV Life Cycle
    HIV Life Cycle0.91
    HIV Infection0.62
    Late Phase of HIV Life Cycle0.91
    2Budding and maturation of HIV virion
    Budding and maturation of HIV virion0.64
    Endosomal Sorting Complex Required For Transport (ESCRT)0.64
    3Clathrin derived vesicle budding
    Membrane Trafficking0.32
    4Endocytosis
    Endocytosis
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for CHMP2A
        Budding and maturation of HIV virion
    Endosomal Sorting Complex Required For Transport (ESCRT)


    1 Kegg Pathway  (Kegg details for CHMP2A):
        Endocytosis


    CHMP2A for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CHMP2A
    Interactions:

        Search GeneGlobe Interaction Network for CHMP2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CHMP2A (O436332, 3 ENSP000003104404) via UniProtKB, MINT, STRING, and/or I2D (see all 92)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP54Q70EL12, 3, ENSP000003452164MINT-6947279 I2D: score=1 STRING: ENSP00000345216
    USP8P408182, 3, ENSP000003022394MINT-6946830 I2D: score=1 STRING: ENSP00000302239
    CHMP4AQ9BY433, ENSP000003242054I2D: score=4 STRING: ENSP00000324205
    EIF2B5Q131443, ENSP000002737834I2D: score=1 STRING: ENSP00000273783
    MITD1Q8WV923, ENSP000002893594I2D: score=1 STRING: ENSP00000289359
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--
    GO:0016032viral process TAS--
    GO:0016197endosomal transport TAS--
    GO:0019058viral life cycle TAS--
    GO:0045184establishment of protein localization IMP--

    CHMP2A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CHMP2A (CHM2A)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CHMP2A gene (2 alternative transcripts): 
    NM_014453.3  NM_198426.2  

    Unigene Cluster for CHMP2A:

    Charged multivesicular body protein 2A
    Hs.12107  [show with all ESTs]
    Unigene Representative Sequence: BM542499
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000600006 ENST00000600118 ENST00000601220 ENST00000312547(uc002qti.3 uc002qtj.3 uc002qtk.3)
    ENST00000596708 ENST00000597209 ENST00000600804 ENST00000597848
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    Additional mRNA sequence: 

    AF042384.1 AK311974.1 AY364248.1 BC002502.2 BT007298.1 CR457002.1 

    15 DOTS entries:

    DT.115965  DT.121473517  DT.97845612  DT.121473599  DT.92442623  DT.121473534  DT.447840  DT.99997736 
    DT.121473615  DT.102840979  DT.86852138  DT.99953083  DT.100794836  DT.121473590  DT.121473538 

    Selected AceView cDNA sequences (see all 286):

    BU171505 BM705125 BI491393 BU676988 CF126255 NM_014453 BC047005 BU168195 
    AI753410 CA389250 CD364660 BG170705 BM709129 BM762087 BM905134 BM968237 
    CA416914 AA632072 BI913958 AA287678 BU789464 BQ712094 BE504707 CD672431 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CHMP2A (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for CHMP2A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CHMP2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTGATGAGG
    CHMP2A Expression
    About this image


    CHMP2A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    CHMP2A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHMP2A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.12107
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHMP2A

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CHMP2A gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chmp2a1 , 5 charged multivesicular body protein 2A1, 5 90.69(n)1
    99.55(a)1
      7 (7.73 cM)5
    689531  NM_026885.31  NP_081161.11 
     130320065 
    chicken
    (Gallus gallus)
    Aves CHMP2A1 charged multivesicular body protein 2A 80.61(n)
    87.73(a)
      776036  NM_001080892.1  NP_001074361.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHMP2A6
    charged multivesicular body protein 2A
    93(a)
    1 ↔ 1
    GL343253.1(141822-146201)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA788317.12   -- 78.72(n)    CA788317.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.23612 Danio rerio mRNA similar to RIKEN cDNA 1500016L11 gene more 77.55(n)    BC045320.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta vps21 vps2 72.77(n)
    77.49(a)
      43164  NM_143198.2  NP_651455.1 
    worm
    (Caenorhabditis elegans)
    Secernentea vps-21 vps-2 66.67(n)
    72.77(a)
      174908  NM_064316.4  NP_496717.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DID4(YKL002W)4
    DID41
    Class E Vps protein of the ESCRT-III complex, required more4
    DID41
    52.28(n)1
    46.45(a)1
      11(437778-438544)4
    8538681, 4  NP_012924.21, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VPS2.11 VPS2.1 62.61(n)
    60.32(a)
      815211  NM_126650.3  NP_565336.1 
    rice
    (Oryza sativa)
    Liliopsida AK071087.12   -- 74.6(n)    AK071087.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHMP2A gene
    CHMP2B2  
    4 SIMAP similar genes for CHMP2A using alignment to 4 protein entries:     CHM2A_HUMAN (see all proteins):
    CHMP1B    CHMP2B    CHMP1A    CHMP3

    CHMP2A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for CHMP2A (see all 119)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1441109221,2
    C--55378574(+) CATGTC/G/TTCCCT 1 -- us2k10--------
    rs1826930761,2
    --59062591(+) CCTTGC/TCTCTA 2 -- int10--------
    rs1878172211,2
    --59062744(+) TGATGA/GAGAAG 2 -- int10--------
    rs118812701,2
    C,F,H--59062859(+) CTTGCC/GTTAGT 2 -- int16Minor allele frequency- G:0.01NS EA NA WA 538
    rs1913479761,2
    C--59063008(+) GTGGCA/GGGGGC 2 -- ut310--------
    rs2002243551,2
    C--59063075(+) TAGGGC/TTGAGG 4 T A mis10--------
    rs769480001,2
    C--59063099(+) TTTTTC/TCCCAC 4 K E mis10--------
    rs1832663431,2
    C--59063101(+) TTTTCC/TCACCA 4 E G mis10--------
    rs2009940471,2
    --59063121(+) CTAAGC/TGAGCC 4 S syn10--------
    rs756729651,2
    C,F--59063157(+) AAAGTG/AGGGGT 2 -- int12Minor allele frequency- A:0.02NA EU 1385

    HapMap Linkage Disequilibrium report for CHMP2A (59062933 - 59066491 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CHMP2A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820066CNV Loss19587683
    dgv4032n71CNV Loss21882294
    nsv912546CNV Loss21882294
    nsv828657CNV Gain20364138
    nsv515731CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CHMP2A
    DNA2.0 Custom Variant and Variant Library Synthesis for CHMP2A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610893    OMIM disorders: --

    7 diseases for CHMP2A:    
    About MalaCards
    fibrosarcomatous osteosarcoma    breast adenocarcinoma    adenocarcinoma    conjunctivitis
    hiv-1    osteosarcoma    malaria

    1 disease from the University of Copenhagen DISEASES database for CHMP2A:
    Fibrosarcomatous osteosarcoma

    CHMP2A for disorders           About GeneDecksing


    Export disorders for CHMP2A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CHMP2A gene, integrated from 10 sources (see all 45):
    (articles sorted by number of sources associating them with CHMP2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins. (PubMed id 11559748)1, 2, 3 Howard T.L.... Hollenberg S.M. (J. Cell Sci. 2001)
    2. Helical structures of ESCRT-III are disassembled by VPS4. (PubMed id 18687924)1, 2, 9 Lata S....Weissenhorn W. (Science 2008)
    3. Mechanism of inhibition of retrovirus release from cells by interferon-induced gene ISG15. (PubMed id 21543490)1, 2 Kuang Z....Leis J. (J. Virol. 2011)
    4. A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex. (PubMed id 16730941)1, 2 Tsang H.T.H....Sanderson C.M. (Genomics 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Mammalian class E Vps proteins, SBP1 and mVps2/CHMP2A, interact with and regulate the function of an AAA-ATPase SKD1/Vps4B. (PubMed id 15173323)1, 3 Fujita H....Himeno M. (J. Cell. Sci. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The protein network of HIV budding. (PubMed id 14505570)1, 2 von Schwedler U.K.... Sundquist W.I. (Cell 2003)
    9. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    10. Divergent retroviral late-budding domains recruit vacuolar protein sorting factors by using alternative adaptor proteins. (PubMed id 14519844)1, 2 Martin-Serrano J.... Bieniasz P.D. (Proc. Natl. Acad. Sci. U.S.A. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 27243 HGNC: 30216 AceView: BC-2 Ensembl:ENSG00000130724 euGenes: HUgn27243
    ECgene: CHMP2A Kegg: 27243 H-InvDB: CHMP2A

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CHMP2A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CHMP2A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CHMP2A gene:
    Search GeneIP for patents involving CHMP2A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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