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

CHMP4A Gene

protein-coding   GIFtS: 54
GCID: GC14M024678

Charged Multivesicular Body Protein 4A

(Previous names: chromosome 14 open reading frame 123, chromatin modifying...)
(Previous symbol: C14orf123)
  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 4A1 2     CHMP4B2
C14orf1231 2 3     HSPC1342
Chromatin Modifying Protein 4A1 2     VPS32-12
Vacuolar Protein Sorting-Associated Protein 32-12 3     VPS32A2
SHAX22 3     Snf7 Homologue Associated With Alix 22
SNF7-12 3     CHMP4a3
SNF7 Homolog Associated With Alix-22 3     Vps32-13
SNF72 5     Chromatin-Modifying Protein 4a3
Chromosome 14 Open Reading Frame 1231     hSnf-13
CHMP42     hVps32-13

External Ids:    HGNC: 202741   Entrez Gene: 290822   Ensembl: ENSG000002545057   OMIM: 6100515   UniProtKB: Q9BY433   

Export aliases for CHMP4A gene to outside databases

Previous GC identifers: GC14M023749 GC14M004793


(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 CHMP4A Gene:
CHMP4A 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 CHMP4A Gene: 
CHMP4A (charged multivesicular body protein 4A) is a protein-coding gene. Diseases associated with CHMP4A include mumps, and conjunctivitis, and among its related super-pathways are HIV Life Cycle and Budding and maturation of HIV virion. GO annotations related to this gene include lipid binding. An important paralog of this gene is CHMP4B.

UniProtKB/Swiss-Prot: CHM4A_HUMAN, Q9BY43
Function: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is
involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs
contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane
of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as
stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the
sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the
invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent
membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1
and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or
membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. When overexpressed,
membrane-assembled circular arrays of CHMP4A filaments can promote or stabilize negative curvature and outward
budding. Via its interaction with PDCD6IP involved in HIV-1 p6- and p9-dependent virus release

Gene Wiki entry for CHMP4A 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_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CHMP4A gene promoter:
         RFX1   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   Nkx2-5   Nkx5-1   POU3F2   GATA-1   CREB   deltaCREB   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CHMP4A promoter sequence
   Search SABiosciences Chromatin IP Primers for CHMP4A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHMP4A


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

Entrez Gene cytogenetic band: 14q12   Ensembl cytogenetic band:  14q12   HGNC cytogenetic band: 14q12

CHMP4A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHMP4A gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M024678:  view genomic region     (about GC identifiers)

Start:
24,678,787 bp from pter      End:
24,683,075 bp from pter
Size:
4,289 bases      Orientation:
minus 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: CHM4A_HUMAN, Q9BY43 (See protein sequence)
Recommended Name: Charged multivesicular body protein 4a  
Size: 222 amino acids; 25098 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; overexpression
leads to the assembly of filaments that curve and associate to create circular rings. Interacts with CHMP2A.
Interacts with CHMP3; the interaction requires the release of CHMP4A autoinhibition. Interacts with CHMP4B.
Interacts with CHMP4C. Interacts with CHMP6. Interacts with VPS4A. Interacts with PDCD6IP; the interaction is
direct
Subcellular location: Cytoplasmic vesicle membrane. Late endosome membrane; Peripheral membrane protein
(Probable). Note=Membrane-associated. Localizes to large vesicle-like structures. Localizes to the midbody of
dividing cells. Localized in two distinct rings on either side of the Fleming body
Sequence caution: Sequence=AAH10893.2; Type=Erroneous initiation; Sequence=AAI07700.1; Type=Erroneous initiation;
Sequence=CAD61949.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for CHMP4A:
3C3O (3D)    
Secondary accessions: Q32Q79 Q86SZ8 Q96QJ9 Q9P026

Explore the universe of human proteins at neXtProt for CHMP4A: NX_Q9BY43

Explore proteomics data for CHMP4A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BY43

  • CHMP4A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CHMP4A Protein Expression
    REFSEQ proteins: NP_054888.2  
    ENSEMBL proteins: 
     ENSP00000324205   ENSP00000449757   ENSP00000436224   ENSP00000432575   ENSP00000448869  
    Reactome Protein details: Q9BY43
    Human Recombinant Protein Products for CHMP4A: 
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    Novus Biologicals CHMP4A Lysate
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for CHMP4A
    Cloud-Clone Corp. Proteins for CHMP4A 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0030496midbody IDA--
    GO:0030659cytoplasmic vesicle membrane IEA--
    GO:0031902late endosome membrane IEA--

    CHMP4A for ontologies           About GeneDecksing



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    (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 Q9BY43

    ProtoNet protein and cluster: Q9BY43

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

    UniProtKB/Swiss-Prot: CHM4A_HUMAN, Q9BY43
    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


    CHMP4A 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: CHM4A_HUMAN, Q9BY43
    Function: Probable core component of the endosomal sorting required for transport complex III (ESCRT-III) which is
    involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs
    contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane
    of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as
    stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the
    sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the
    invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent
    membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1
    and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or
    membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. When overexpressed,
    membrane-assembled circular arrays of CHMP4A filaments can promote or stabilize negative curvature and outward
    budding. Via its interaction with PDCD6IP involved in HIV-1 p6- and p9-dependent virus release

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008289lipid binding IEA--
         
    CHMP4A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CHMP4A:
     Increased cell number in G2M,  

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CHMP4A 
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    SwitchGear 3'UTR luciferase reporter plasmidCHMP4A 3' UTR sequence
    Inhib. RNA
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    (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 CHMP4A 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 CHMP4A (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 CHMP4A):
        Endocytosis


    CHMP4A for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CHMP4A

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

    5/57 Interacting proteins for CHMP4A (Q9BY432, 3 ENSP000003242054) via UniProtKB, MINT, STRING, and/or I2D (see all 57)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP54Q70EL12, 3, ENSP000003452164MINT-6947321 I2D: score=1 STRING: ENSP00000345216
    CHMP2AO436333, ENSP000003104404I2D: score=4 STRING: ENSP00000310440
    CC2D1AQ6P1N03, ENSP000003136014I2D: score=1 STRING: ENSP00000313601
    PDCD6IPQ8WUM43, ENSP000003073874I2D: score=10 STRING: ENSP00000307387
    TTC19Q6DKK23, ENSP000002616474I2D: score=1 STRING: ENSP00000261647
    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--

    CHMP4A 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 CHMP4A (CHM4A)

    Search CenterWatch for drugs/clinical trials and news about CHMP4A / CHM4A

    (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,
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    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 CHMP4A gene: 
    NM_014169.3  

    Unigene Cluster for CHMP4A:

    Charged multivesicular body protein 4A
    Hs.279761  [show with all ESTs]
    Unigene Representative Sequence: AK094345
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000347519 ENST00000530996 ENST00000533523 ENST00000542700 ENST00000533011
    ENST00000524955 ENST00000552620 ENST00000534106 ENST00000527154 ENST00000531158

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate CHMP4A:
    hsa-miR-4328 hsa-miR-1271 hsa-miR-96
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    Additional mRNA sequence: 

    AB100262.2 AF161483.1 AF212243.1 AK094345.1 AY329084.1 BC010893.1 BC107699.1 BC113533.1 
    BC113535.1 BC143834.1 

    14 DOTS entries:

    DT.100696524  DT.411394  DT.95228148  DT.91741494  DT.100782668  DT.100042051  DT.100811330  DT.100811331 
    DT.120731609  DT.100811332  DT.120731519  DT.120731524  DT.120731555  DT.92420959 

    24/554 AceView cDNA sequences (see all 554):

    AI354437 BQ669080 CD518977 CF130271 BG756801 BM704669 CD367630 BU157001 
    CA942361 AI571450 AI032042 BM768317 BF795492 AI128579 F36177 AX747749 
    BM920212 BM841891 BQ962960 AI139663 BE395591 AI085668 BQ652841 BQ672031 

    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

    CHMP4A expression in normal human tissues (normalized intensities)      CHMP4A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGAGGGTGG
    CHMP4A Expression
    About this image


    CHMP4A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Mural Trophectoderm Cells Mural Trophectoderm
     
     Kidney (Urinary System)

    See CHMP4A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CHMP4A

    SOURCE GeneReport for Unigene cluster: Hs.279761

    UniProtKB/Swiss-Prot: CHM4A_HUMAN, Q9BY43
    Tissue specificity: Widely expressed. Expressed at higher level in heart, kidney, liver and skeletal muscle. Also
    expressed in brain, placenta, lung and pancreas

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHMP4A

    (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 CHMP4A gene from 7/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia CHMP4A1 charged multivesicular body protein 4A 90.24(n)
    91.44(a)
      480263  XM_537387.3  XP_537387.2 
    lizard
    (Anolis carolinensis)
    Reptilia CHMP4A6
    Uncharacterized protein
    71(a)
    1 ↔ 1
    AAWZ02037795(3613-9894)
    fruit fly
    (Drosophila melanogaster)
    Insecta shrb6
    shrub
    50(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)
    52(a)
    50(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...
    35(a)
    1 → many
    XII(194452-195174)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SNF7.11 vacuolar protein sorting-associated protein 32-2 48.47(n)
    40.58(a)
      829037  NM_001084999.1  NP_001078468.1 
    rice
    (Oryza sativa)
    Liliopsida Os09g02676001 hypothetical protein 49.2(n)
    42.31(a)
      4346566  NM_001069258.1  NP_001062723.1 


    ENSEMBL Gene Tree for CHMP4A (if available)
    TreeFam Gene Tree for CHMP4A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CHMP4A gene
    CHMP4B2  CHMP4C2  
    4 SIMAP similar genes for CHMP4A using alignment to 6 protein entries:     CHM4A_HUMAN (see all proteins):
    TM9SF1    CHMP4B    CHMP4C    CHMP6

    CHMP4A for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CHMP4A
    PGOHUM00000258128


    (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

    10/135 SNPs in CHMP4A are shown (see all 135)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs80072721,2
    C,A--24678288(+) ATTCCG/AAGTAG 1 -- int12Minor allele frequency- A:0.25WA NA 4
    rs1136570631,2
    C--24678319(+) ATTCCG/AAGTAG 1 -- int11Minor allele frequency- A:0.50NA 2
    rs12420151,2
    C,A--24678350(-) CTACTC/TGGAAT 1 -- int10--------
    rs12420141,2
    C,F--24678381(-) CTACTT/CGGAAT 1 -- int13Minor allele frequency- C:0.33NA 6
    rs80068161,2
    C,A--24678411(+) CATTCC/AAAGTA 1 -- int12Minor allele frequency- A:0.00NA 4
    rs1133471011,2
    C--24678412(+) ATTCCG/AAGTAG 1 -- int11Minor allele frequency- A:0.00NA 2
    rs590336231,2
    C--24678443(+) ATTCCG/AAGTAG 1 -- int11Minor allele frequency- A:0.00NA 2
    rs1123906171,2
    C,F--24678485(+) CCTCCT/CTGTCC 1 -- int12Minor allele frequency- C:0.04CSA WA 120
    rs1468049111,2
    C--24678647(+) CAAACC/TGGCTT 1 -- int10--------
    rs1489531841,2
    --24678657(+) TGAAAA/GATGAA 1 -- int10--------

    HapMap Linkage Disequilibrium report for CHMP4A (24678787 - 24683075 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CHMP4A: --
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CHMP4A
    DNA2.0 Custom Variant and Variant Library Synthesis for CHMP4A

    (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: 610051    OMIM disorders: --

    5 diseases for CHMP4A:    About MalaCards
    mumps    conjunctivitis    cataract    hypoxia
    neuronitis

    1 disease from the University of Copenhagen DISEASES database for CHMP4A:
    Mumps

    CHMP4A for disorders           About GeneDecksing


    Export disorders for CHMP4A 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 CHMP4A gene, integrated from 9 sources (see all 39):
    (articles sorted by number of sources associating them with CHMP4A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The ALG-2-interacting protein Alix associates with CHMP4b, a human homologue of yeast Snf7 that is involved in multivesicular body sorting. (PubMed id 12860994)1, 2, 9 Katoh K.... Maki M. (2003)
    2. CHMP4b is a major binding partner of the ALG-2-interacting protein Alix among the three CHMP4 isoforms. (PubMed id 14678797)1, 2, 9 Katoh K....Maki M. (2004)
    3. Structure and function of human Vps20 and Snf7 proteins. (PubMed id 14583093)1, 2, 9 Peck J.W.... Burbelo P.D. (2004)
    4. Plasma membrane deformation by circular arrays of ESCRT-III protein filaments. (PubMed id 18209100)1, 2 Hanson P.I....Heuser J.E. (2008)
    5. ALIX-CHMP4 interactions in the human ESCRT pathway. (PubMed id 18511562)1, 2 McCullough J....Hill C.P. (2008)
    6. Structure/function analysis of four core ESCRT-III proteins reveals common regulatory role for extreme C-terminal domain. (PubMed id 17547705)1, 2 Shim S....Hanson P.I. (2007)
    7. Interaction of the mammalian endosomal sorting complex required for transport (ESCRT) III protein hSnf7-1 with itself, membranes, and the AAA+ ATPase SKD1. (PubMed id 15632132)1, 2 Lin Y.... Hanson P.I. (2005)
    8. 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)
    9. The protein network of HIV budding. (PubMed id 14505570)1, 2 von Schwedler U.K.... Sundquist W.I. (2003)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 29082 HGNC: 20274 AceView: NEDD8 Ensembl:ENSG00000254505 euGenes: HUgn29082
    ECgene: CHMP4A Kegg: 29082 H-InvDB: CHMP4A

    (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 CHMP4A 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 CHMP4A gene:
    Search GeneIP for patents involving CHMP4A

    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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