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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CHMP6 Gene

protein-coding   GIFtS: 58
GCID: GC17P078965

Charged Multivesicular Body Protein 6

(Previous name: chromatin modifying protein 6)
Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
Charged Multivesicular Body Protein 61 2     VPS202 3
Chromatin Modifying Protein 61 2     hVps202 3
Chromatin-Modifying Protein 62 3     Vps203
Vacuolar Protein Sorting-Associated Protein 202 3     

External Ids:    HGNC: 256751   Entrez Gene: 796432   Ensembl: ENSG000001761087   OMIM: 6109015   UniProtKB: Q96FZ73   

Export aliases for CHMP6 gene to outside databases

Previous GC identifers: GC17P076581 GC17P074403


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CHMP6 Gene:
This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein family. Proteins
in this family are part of the ESCRT-III (endosomal sorting complex required for transport III) which degrades
surface receptors, and in biosynthesis of endosomes. (provided by RefSeq, Mar 2012)

GeneCards Summary for CHMP6 Gene: 
CHMP6 (charged multivesicular body protein 6) is a protein-coding gene. Diseases associated with CHMP6 include conjunctivitis, and sarcoma, and among its related super-pathways are HIV Life Cycle and Budding and maturation of HIV virion. GO annotations related to this gene include protein N-terminus binding.

UniProtKB/Swiss-Prot: CHMP6_HUMAN, Q96FZ7
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. In the ESCRT-III complex, it
probably serves as an acceptor for the ESCRT-II complex on endosomal membranes

Gene Wiki entry for CHMP6 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHMP6 gene promoter:
         AP-2rep   p53   Lmo2   MyoD   MIF-1   AP-4   Gfi-1   YY1   GATA-2   HEN1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHMP6 promoter sequence
   Search SABiosciences Chromatin IP Primers for CHMP6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHMP6


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

CHMP6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHMP6 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P078965:  view genomic region     (about GC identifiers)

Start:
78,965,398 bp from pter      End:
78,983,317 bp from pter
Size:
17,920 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CHMP6_HUMAN, Q96FZ7 (See protein sequence)
Recommended Name: Charged multivesicular body protein 6  
Size: 201 amino acids; 23485 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. Interacts with VPS4A; the
interaction is direct. Interacts with VPS4B; the interaction is direct. Interacts with CHMP4A, CHMP4B and CHMP4C.
Interacts with SNF8, VPS25 and VPS36
Subcellular location: Endomembrane system. Endosome membrane; Lipid-anchor. Late endosome membrane (Probable).
Note=Localizes to endosomal membranes
2 PDB 3D structures from and Proteopedia for CHMP6:
2K3W (3D)        3HTU (3D)    
Secondary accessions: A8K7U0 Q53FU4 Q9HAE8

Explore the universe of human proteins at neXtProt for CHMP6: NX_Q96FZ7

Explore proteomics data for CHMP6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96FZ7

  • CHMP6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHMP6 Protein Expression
    REFSEQ proteins: NP_078867.2  
    ENSEMBL proteins: 
     ENSP00000460389   ENSP00000317468   ENSP00000461098   ENSP00000461238  
    Reactome Protein details: Q96FZ7
    Human Recombinant Protein Products for CHMP6: 
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    Novus Biologicals CHMP6 Proteins
    Novus Biologicals CHMP6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for CHMP6
    Cloud-Clone Corp. Proteins for CHMP6 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0012505endomembrane system IEA--
    GO:0031902late endosome membrane IEA--

    CHMP6 for ontologies           About GeneDecksing



    CHMP6 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for CHMP6


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

    1 InterPro protein domain:
     IPR005024 Snf7

    Graphical View of Domain Structure for InterPro Entry Q96FZ7

    ProtoNet protein and cluster: Q96FZ7

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

    UniProtKB/Swiss-Prot: CHMP6_HUMAN, Q96FZ7
    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


    CHMP6 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHMP6_HUMAN, Q96FZ7
    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. In the ESCRT-III complex, it
    probably serves as an acceptor for the ESCRT-II complex on endosomal membranes

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0047485protein N-terminus binding IPI18606141
         
    CHMP6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CHMP6:
     Decreased nuclei size in G2M 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHMP6 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CHMP6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHMP6 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHMP6 

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate CHMP6:
    hsa-miR-214 hsa-miR-1226 hsa-miR-3065-3p hsa-miR-29c hsa-miR-29a hsa-miR-761 hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidCHMP6 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHMP6


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CHMP6 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1HIV Life Cycle
    HIV Life Cycle0.92
    HIV Infection0.61
    Late Phase of HIV Life Cycle0.92
    2Endosomal Sorting Complex Required For Transport (ESCRT)
    Endosomal Sorting Complex Required For Transport (ESCRT)0.71
    Budding and maturation of HIV virion0.71
    3Membrane Trafficking
    Membrane Trafficking0.32
    4Endocytosis
    Endocytosis
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/7        Reactome Pathways for CHMP6 (see all 7)
        HIV Life Cycle
    HIV Infection
    Late Phase of HIV Life Cycle
    Membrane Trafficking
    Budding and maturation of HIV virion


    1         Kegg Pathway  (Kegg details for CHMP6):
        Endocytosis


    CHMP6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHMP6

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

    5/41 Interacting proteins for CHMP6 (Q96FZ72, 3 ENSP000003174684) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP54Q70EL12, 3, ENSP000003452164MINT-6947377 I2D: score=1 STRING: ENSP00000345216
    USP8P408182, 3, ENSP000003022394MINT-6946916 I2D: score=1 STRING: ENSP00000302239
    CHMP4BQ9H4443, ENSP000002174024I2D: score=6 STRING: ENSP00000217402
    VPS25Q9BRG13, ENSP000002537944I2D: score=5 STRING: ENSP00000253794
    CHMP4AQ9BY433, ENSP000003242054I2D: score=2 STRING: ENSP00000324205
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--
    GO:0016032viral process TAS--
    GO:0016197endosomal transport TAS--

    CHMP6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CHMP6

    Search CenterWatch for drugs/clinical trials and news about CHMP6

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CHMP6 gene: 
    NM_024591.4  

    Unigene Cluster for CHMP6:

    Charged multivesicular body protein 6
    Hs.514560  [show with all ESTs]
    Unigene Representative Sequence: NM_024591
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000572525 ENST00000325167(uc002jyw.4) ENST00000572778 ENST00000571457

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate CHMP6:
    hsa-miR-214 hsa-miR-1226 hsa-miR-3065-3p hsa-miR-29c hsa-miR-29a hsa-miR-761 hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidCHMP6 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHMP6
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHMP6
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHMP6

    Additional mRNA sequence: 

    AK021811.1 AK223187.1 AK292105.1 AY329087.1 BC010108.2 CR457284.1 

    8 DOTS entries:

    DT.412290  DT.100670179  DT.100794028  DT.438071  DT.92429255  DT.95338794  DT.95338814  DT.97776361 

    24/195 AceView cDNA sequences (see all 195):

    BP376553 BM926831 BU554096 BU839076 CD516369 BE783904 CK903631 BU167285 
    BM983062 BG030574 BM908143 BM921813 BM727392 BM786576 CB131166 BI093313 
    BU175054 AY329087 BM913051 BI963039 BQ681004 AI686019 CD512753 CD674909 

    GeneLoc Exon Structure


    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CHMP6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCGTGACTTC
    CHMP6 Expression
    About this image


    See CHMP6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHMP6

    SOURCE GeneReport for Unigene cluster: Hs.514560

    UniProtKB/Swiss-Prot: CHMP6_HUMAN, Q96FZ7
    Tissue specificity: Ubiquitously expressed

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHMP6

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CHMP6 gene from 10/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chmp61 , 5 charged multivesicular body protein 61, 5 88(n)1
    93(a)1
      11 (83.96 cM)5
    2080921  NM_001085498.21  NP_001078967.11 
     1199134415 
    chicken
    (Gallus gallus)
    Aves CHMP61 chromatin modifying protein 6 78(n)
    82(a)
      428673  NM_001031529.1  NP_001026700.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHMP66
    Uncharacterized protein
    85(a)
    1 ↔ 1
    2(99702892-99712077)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.239292 Xenopus laevis transcribed sequence with moderate similarity more 74.47(n)    BJ626402.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chmp6b1 chromatin modifying protein 6b 67.71(n)
    70.31(a)
      445397  NM_001003874.1  NP_001003874.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vps201 Vacuolar protein sorting 20 62.96(n)
    53.54(a)
      37581  NM_137842.3  NP_611686.2 
    worm
    (Caenorhabditis elegans)
    Secernentea vps-201 Protein VPS-20 53.3(n)
    47.72(a)
      171654  NM_058361.5  NP_490762.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes VPS20(YMR077C)4
    VPS201
    Myristoylated subunit of ESCRTIII, the endosomal sorting more4
    Vps20p1
    45.81(n)1
    31.02(a)1
      13(422149-421484)4
    8551011, 4  NP_013794.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons VPS20.11 vacuolar protein sorting-associated protein 20-1 46.31(n)
    38.38(a)
      836508  NM_001203681.1  NP_001190610.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g05965001 hypothetical protein 49.91(n)
    35.91(a)
      4329866  NM_001053857.1  NP_001047322.1 


    ENSEMBL Gene Tree for CHMP6 (if available)
    TreeFam Gene Tree for CHMP6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHMP6 gene
    2 SIMAP similar genes for CHMP6 using alignment to 4 protein entries:     CHMP6_HUMAN (see all proteins):
    TM9SF1    CHMP4A

    CHMP6 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/317 SNPs in CHMP6 are shown (see all 317)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1163201031,2
    C,F--78963711(+) AGCCAC/TGGGAA 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1418589201,2
    --78963738(+) CCTGTA/GCCTGT 1 -- us2k10--------
    rs1501978801,2
    --78963785(+) CTCAAC/GCGTCT 1 -- us2k10--------
    rs1883858671,2
    --78963850(+) TTTCTC/TTTTTT 1 -- us2k10--------
    rs1387804421,2
    --78963913(+) AGCTCA/CCTGCA 1 -- us2k10--------
    rs780573211,2
    C,F--78963975(+) CTGCGG/ATTACA 1 -- us2k12Minor allele frequency- A:0.50WA CSA 4
    rs1928356291,2
    --78964032(+) ACGGTC/GCACTA 1 -- us2k10--------
    rs1473942611,2
    --78964077(+) AGGTGA/TTCCAC 1 -- us2k10--------
    rs80715141,2
    C,F,A--78964083(+) tccacC/Acacct 1 -- us2k12Minor allele frequency- A:0.50NA 4
    rs1437286281,2
    C--78964089(+) CACCTC/TAGCCT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CHMP6 (78965398 - 78983317 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/16 variations for CHMP6 (see all 16):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1442457CNV Deletion17803354
    esv1004379CNV Deletion20482838
    nsv909010CNV Loss21882294
    dgv3309n71CNV Loss21882294
    dgv3308n71CNV Loss21882294
    dgv3306n71CNV Loss21882294
    dgv3304n71CNV Loss21882294
    nsv909000CNV Loss21882294
    nsv909005CNV Loss21882294
    nsv828128CNV Loss20364138

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610901    OMIM disorders: --

    2 diseases for CHMP6:    About MalaCards
    conjunctivitis    sarcoma


    CHMP6 for disorders           About GeneDecksing


    Export disorders for CHMP6 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)
    About This Section

    PubMed articles for CHMP6 gene, integrated from 9 sources (see all 28):
    (articles sorted by number of sources associating them with CHMP6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human CHMP6, a myristoylated ESCRT-III protein, interacts directly with an ESCRT-II component EAP20 and regulates endosomal cargo sorting. (PubMed id 15511219)1, 2, 3, 9 Yorikawa C....Maki M. (2005)
    2. Structure and function of human Vps20 and Snf7 proteins. (PubMed id 14583093)1, 2, 9 Peck J.W.... Burbelo P.D. (2004)
    3. Two distinct modes of ESCRT-III recognition are required for VPS4 functions in lysosomal protein targeting and HIV-1 budding. (PubMed id 18606141)1, 2 Kieffer C....Sundquist W.I. (2008)
    4. 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. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. The protein network of HIV budding. (PubMed id 14505570)1, 2 von Schwedler U.K.... Sundquist W.I. (2003)
    7. 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. (2003)
    8. CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins. (PubMed id 11559748)1, 3 Howard T.L....Hollenberg S.M. (2001)
    9. Overexpression of CHMP6 induces cellular oncosis and apoptosis in HeLa cells. (PubMed id 19270365)1, 9 Fu D....Wang Y. (2009)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    OMIM
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      (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)
    About This Section
    Entrez Gene: 79643 HGNC: 25675 AceView: FLJ11749 Ensembl:ENSG00000176108 euGenes: HUgn79643
    ECgene: CHMP6 Kegg: 79643 H-InvDB: CHMP6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CHMP6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CHMP6 gene:
    Search GeneIP for patents involving CHMP6

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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