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

CHMP4C Gene

protein-coding   GIFtS: 55
GCID: GC08P082644

Charged Multivesicular Body Protein 4C

(Previous name: chromatin modifying protein 4C)
  See related disease
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 4C1 2     SNF7 Homolog Associated With Alix 32 3
Chromatin Modifying Protein 4C1 2     Shax32
Snf7 Homologue Associated With Alix 31 2     VPS32C2
Chromatin-Modifying Protein 4c2 3     vps32-32
Vacuolar Protein Sorting-Associated Protein 32-32 3     CHMP4c3
SNF7-32 3     SHAX33
hSnf7-32 3     Vps32-33
hVps32-32 3     

External Ids:    HGNC: 305991   Entrez Gene: 924212   Ensembl: ENSG000001646957   OMIM: 6108995   UniProtKB: Q96CF23   

Export aliases for CHMP4C gene to outside databases

Previous GC identifers: GC08P082808 GC08P078134


(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 CHMP4C Gene:
CHMP4C 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 CHMP4C Gene: 
CHMP4C (charged multivesicular body protein 4C) is a protein-coding gene. Diseases associated with CHMP4C include conjunctivitis, and among its related super-pathways are HIV Life Cycle and Budding and maturation of HIV virion. An important paralog of this gene is CHMP4B.

UniProtKB/Swiss-Prot: CHM4C_HUMAN, Q96CF2
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 CHMP4C 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_000008.10  NC_018919.2  NT_008183.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHMP4C gene promoter:
         STAT5B   STAT1   STAT4   STAT1beta   STAT5A   STAT1alpha   HNF-1A   HNF-1   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHMP4C promoter sequence
   Search SABiosciences Chromatin IP Primers for CHMP4C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHMP4C


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

Entrez Gene cytogenetic band: 8q21.13   Ensembl cytogenetic band:  8q21.13   HGNC cytogenetic band: 8q21.13

CHMP4C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHMP4C gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P082644:  view genomic region     (about GC identifiers)

Start:
82,644,669 bp from pter      End:
82,671,750 bp from pter
Size:
27,082 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: CHM4C_HUMAN, Q96CF2 (See protein sequence)
Recommended Name: Charged multivesicular body protein 4c  
Size: 233 amino acids; 26411 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. Self-associates. Interacts with
CHMP2A. Interacts with CHMP4A. Interacts with CHMP4B. Interacts with CHMP6. Interacts with VPS4A. Interacts with
PDCD6IP; the interaction is direct
Subcellular location: Cytoplasm, cytosol. Late endosome membrane; Peripheral membrane protein (Probable)
Miscellaneous: Its overexpression strongly inhibits HIV-1 release
1 PDB 3D structure from and Proteopedia for CHMP4C:
3C3R (3D)    
Secondary accessions: B2RBZ1

Explore the universe of human proteins at neXtProt for CHMP4C: NX_Q96CF2

Explore proteomics data for CHMP4C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96CF2

  • CHMP4C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHMP4C Protein Expression
    REFSEQ proteins: NP_689497.1  
    ENSEMBL proteins: 
     ENSP00000297265  
    Reactome Protein details: Q96CF2
    Human Recombinant Protein Products for CHMP4C: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CHMP4C 

    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:0030496midbody IDA--
    GO:0031902late endosome membrane IEA--

    CHMP4C for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for CHMP4C


    (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 Q96CF2

    ProtoNet protein and cluster: Q96CF2

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

    UniProtKB/Swiss-Prot: CHM4C_HUMAN, Q96CF2
    Domain: The acidic C-terminus and the basic N-termminus are thought to render the protein in a closed, soluble and
    inactive conformation through an autoinhibitory intramolecular interaction. The open and active conformation,
    which enables membrane binding and oligomerization, is achieved by interaction with other cellular binding
    partners, probably including other ESCRT components (By similarity)
    Similarity: Belongs to the SNF7 family


    CHMP4C 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: CHM4C_HUMAN, Q96CF2
    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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17711858
         
    CHMP4C for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHMP4C 
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    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate CHMP4C (see all 16):
    hsa-miR-4317 hsa-miR-320a hsa-miR-520f hsa-miR-512-3p hsa-miR-4275 hsa-miR-661 hsa-miR-320e hsa-miR-1323
    SwitchGear 3'UTR luciferase reporter plasmidCHMP4C 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHMP4C


    (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 CHMP4C 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 CHMP4C (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 CHMP4C):
        Endocytosis


    CHMP4C for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CHMP4C

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

    5/33 Interacting proteins for CHMP4C (Q96CF22, 3 ENSP000002972654) via UniProtKB, MINT, STRING, and/or I2D (see all 33)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP8P408182, 3, ENSP000003022394MINT-6946888 I2D: score=3 STRING: ENSP00000302239
    USP54Q70EL12, 3, ENSP000003452164MINT-6947349 I2D: score=1 STRING: ENSP00000345216
    PDCD6IPQ8WUM43, ENSP000003073874I2D: score=3 STRING: ENSP00000307387
    CHMP4AQ9BY433, ENSP000003242054I2D: score=2 STRING: ENSP00000324205
    CHMP4BQ9H4443, ENSP000002174024I2D: score=2 STRING: ENSP00000217402
    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--

    CHMP4C 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 CHMP4C (CHM4C)

    Search CenterWatch for drugs/clinical trials and news about CHMP4C / CHM4C

    (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 CHMP4C gene: 
    NM_152284.3  

    Unigene Cluster for CHMP4C:

    Charged multivesicular body protein 4C
    Hs.183861  [show with all ESTs]
    Unigene Representative Sequence: NM_152284
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000297265(uc003ycl.3)
    miRNA
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    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate CHMP4C (see all 16):
    hsa-miR-4317 hsa-miR-320a hsa-miR-520f hsa-miR-512-3p hsa-miR-4275 hsa-miR-661 hsa-miR-320e hsa-miR-1323
    SwitchGear 3'UTR luciferase reporter plasmidCHMP4C 3' UTR sequence
    Inhib. RNA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CHMP4C
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CHMP4C
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHMP4C

    Additional mRNA sequence: 

    AB120734.1 AK000049.1 AK314873.1 AY329086.1 BC014321.1 

    3 DOTS entries:

    DT.109798  DT.303261  DT.100649422 

    24/66 AceView cDNA sequences (see all 66):

    AA631301 AA552175 BM845038 CK825638 BF437663 AA919044 AW514723 BF437624 
    AI362420 BE673071 BC014321 BQ778244 BQ268765 NM_152284 AB120734 AI566054 
    BP343096 AA598402 AI867509 AW514712 AI680186 AI202463 AY329086 BE302394 

    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

    CHMP4C expression in normal human tissues (normalized intensities)      CHMP4C embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGAAACCCT
    CHMP4C Expression
    About this image


    CHMP4C expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/24 selected tissues (see all 24) fully expand
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 3 entries
             small intestine ; glandular cells   
             ileum   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
             skeletal muscle ; myocytes   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             rectum ; glandular cells   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   

    See CHMP4C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHMP4C

    SOURCE GeneReport for Unigene cluster: Hs.183861

    UniProtKB/Swiss-Prot: CHM4C_HUMAN, Q96CF2
    Tissue specificity: Expressed in heart, spleen and kidney

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CHMP4C
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHMP4C

    (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 CHMP4C gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chmp4c1 , 5 charged multivesicular body protein 4C1, 5 83.19(n)1
    87.07(a)1
      3 (2.63 cM)5
    663711  NM_025519.21  NP_079795.11 
     103669075 
    chicken
    (Gallus gallus)
    Aves CHMP4C1 chromatin modifying protein 4C 75.08(n)
    78.44(a)
      420201  NM_001199475.1  NP_001186404.1 
    lizard
    (Anolis carolinensis)
    Reptilia CHMP4C6
    Uncharacterized protein
    75(a)
    1 ↔ 1
    4(24391346-24419726)
    zebrafish
    (Danio rerio)
    Actinopterygii chmp4c1 chromatin modifying protein 4C 64.85(n)
    69.09(a)
      550542  NM_001017844.1  NP_001017844.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta shrb6
    shrub
    48(a)
    1 → many
    2R(5029651-5031415)
    worm
    (Caenorhabditis elegans)
    Secernentea vps-32.16
    vps-32.26
    (see all 3)
    Protein VPS-32.2
    (see all 3)
    51(a)
    46(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    II(6589290-6591086)
    V(7849984-7851029)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SNF76
    One of four subunits of the endosomal sorting comp...
    32(a)
    1 → many
    XII(194452-195174)
    rice
    (Oryza sativa)
    Liliopsida Os11g01235001 hypothetical protein 49.28(n)
    36.41(a)
      4349637  NM_001072148.1  NP_001065616.1 


    ENSEMBL Gene Tree for CHMP4C (if available)
    TreeFam Gene Tree for CHMP4C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHMP4C gene
    CHMP4B2  CHMP4A2  
    3 SIMAP similar genes for CHMP4C using alignment to 1 protein entry:     CHM4C_HUMAN:
    CHMP4B    CHMP4A    TM9SF1

    CHMP4C 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

    10/627 SNPs in CHMP4C are shown (see all 627)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs100995261,2
    C,F,H--82642689(+) GATAAG/ATTCTT 1 -- us2k15Minor allele frequency- A:0.01NS EA WA 538
    rs1118874521,2
    C,F--82642710(+) ACTCCT/CCCATG 1 -- us2k12Minor allele frequency- C:0.02NA 122
    rs736947551,2
    C,F--82643010(+) GATAAG/ACATAT 1 -- us2k12Minor allele frequency- A:0.10WA 120
    rs1465515761,2
    --82643091(+) AAGCTC/GTTAGA 1 -- us2k10--------
    rs1928499721,2
    --82643131(+) TTACAC/TTCAAT 1 -- us2k10--------
    rs736947561,2
    C--82643163(+) GCAACG/AGGAAC 1 -- us2k14Minor allele frequency- A:0.10WA NA EA 360
    rs1411776371,2
    --82643205(+) CAAGGA/GCCTTA 1 -- us2k10--------
    rs736947571,2
    C,F--82643283(+) TACTTA/GCGACA 1 -- us2k14Minor allele frequency- G:0.17WA CSA EA 242
    rs736947591,2
    C,F--82643284(+) ACTTAC/TGACAA 1 -- us2k14Minor allele frequency- T:0.17WA CSA EA 242
    rs69838921,2
    C,F,A,H--82643406(+) CACATG/ATTTGT 1 -- us2k124Minor allele frequency- A:0.07NS EA NA WA CSA 2353

    HapMap Linkage Disequilibrium report for CHMP4C (82644669 - 82671750 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CHMP4C:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv465721CNV Gain19166990
    nsv831369CNV Gain+Loss17160897

    SABiosciences Cancer Mutation PCR Assays
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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: 610899    OMIM disorders: --

    2 diseases for CHMP4C:    About MalaCards
    conjunctivitis    


    CHMP4C for disorders           About GeneDecksing


    Export disorders for CHMP4C 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 CHMP4C gene, integrated from 9 sources (see all 23):
    (articles sorted by number of sources associating them with CHMP4C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. CHMP4b is a major binding partner of the ALG-2-interacting protein Alix among the three CHMP4 isoforms. (PubMed id 14678797)1, 2, 3, 9 Katoh K....Maki M. (2004)
    2. Structure and function of human Vps20 and Snf7 proteins. (PubMed id 14583093)1, 2, 9 Peck J.W.... Burbelo P.D. (2004)
    3. ALIX-CHMP4 interactions in the human ESCRT pathway. (PubMed id 18511562)1, 2 McCullough J....Hill C.P. (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. The protein network of HIV budding. (PubMed id 14505570)1, 2 von Schwedler U.K.... Sundquist W.I. (2003)
    6. AIP1/ALIX is a binding partner for HIV-1 p6 and EIAV p9 functioning in virus budding. (PubMed id 14505569)1, 2 Strack B.... Goettlinger H.G. (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. GWAS meta-analysis and replication identifies three ne w susceptibility loci for ovarian cancer. (PubMed id 23535730)1 Pharoah P.D....Sellers T.A. (2013)
    9. The chromosomal passenger complex controls the functio n of endosomal sorting complex required for transport-III Snf7 proteins during c ytokinesis. (PubMed id 22724069)1 Capalbo L....D'Avino P.P. (2012)
    10. ESCRT-III governs the Aurora B-mediated abscission che ckpoint through CHMP4C. (PubMed id 22422861)1 Carlton J.G....Martin-Serrano J. (2012)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 92421 HGNC: 30599 AceView: Shax3 Ensembl:ENSG00000164695 euGenes: HUgn92421
    ECgene: CHMP4C Kegg: 92421 H-InvDB: CHMP4C

    (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 CHMP4C 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 CHMP4C gene:
    Search GeneIP for patents involving CHMP4C

    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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