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

DUX4 Gene

protein-coding   GIFtS: 45
GCID: GC04P191005

double homeobox 4

 Explore 7 diseases affiliated with
DUX4 via our new
 Human Malady Compendium 
Biological research products
for DUX4
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Double Homeobox 41 2
Double Homeobox Protein 102 3
Double Homeobox Protein 4/102 3
DUX102 3
Double Homeobox Protein 42
Double Homeobox Protein DUX102

External Ids:    HGNC: 30821   Entrez Gene: 229472   Ensembl: ENSG000002583897   OMIM: 6060095   UniProtKB: Q9UBX23   

Export aliases for DUX4 gene to outside databases

Previous GC identifers: GC04P192017 GC10P134609 GC04P191585 GC04P191697 GC04P191683 GC04P191376 GC04P191232 GC04P191240 GC04P191251 GC04P191254 GC04P191257 GC04P191260


(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 DUX4:
This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is
polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an
open reading frame (named DUX4) that contains two homeoboxes; the repeat-array and ORF is conserved in other mammals.
There was no evidence for transcription from standard cDNA libraries however RTPCR and in-vitro expression experiments
indicate that the ORF is transcribed and the encoded protein has been reported to function as a transcriptional
activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the microsatellite
repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2
Function: Involved in transcriptional regulation




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for DUX4
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for DUX4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DUX4


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

Entrez Gene cytogenetic band: 4q35   Ensembl cytogenetic band:  4q35.2   HGNC cytogenetic band: 4q35.2

DUX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DUX4 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P191005:  view genomic region     (about GC identifiers)

Start:
191,005,267 bp from pter      End:
191,007,067 bp from pter
Size:
1,801 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2 (See protein sequence)
Recommended Name: Double homeobox protein 4  
Size: 424 amino acids; 44940 Da
Subunit: May exist as a monomer or a dimer
Subcellular location: Nucleus. Note=Actively transported through the nuclear pore complex (NPC)
Miscellaneous: DUX genes are present in 3.3-kilobase elements, a tandem repeat family scattered in the genome found on
the short arms of all acrocentric chromosomes as well as on several other chromosomes

Explore the universe of human proteins at neXtProt for DUX4: NX_Q9UBX2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UBX2

  • DUX4 Protein expression data from MOPED and PaxDb: --
    REFSEQ proteins: NP_149418.3  
    ENSEMBL proteins: 
     ENSP00000451207   ENSP00000451304  

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    Uscn Proteins for DUX4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--


    DUX4 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    DUX4 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000047 HTH_motif
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q9UBX2

    ProtoNet protein and cluster: Q9UBX2

    1 Blocks protein family: IPB000047 Lambda and other repressor helix-turn-helix signature

    UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2
    Domain: Both homebox domains confer nuclear targeting
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 2 homeobox DNA-binding domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2
    Function: Involved in transcriptional regulation

         Genatlas biochemistry entry for DUX4:
    double homeo box protein 4 in the partially deleted D4Z4 locus (FSHD)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000976transcription regulatory region sequence-specific DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--


    DUX4 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for DUX4:
     Increased HPV18 LCR reporter a 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DUX4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--


    DUX4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 DUX4
    Search CenterWatch for drugs/clinical trials and news about DUX4 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
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    About This Section

    REFSEQ mRNAs for DUX4 gene: 
    NM_033178.2  

    Unigene Cluster for DUX4:

    Double homeobox 4
    Hs.553518
    Unigene Representative Sequence: NM_033178
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000554285 ENST00000556625(uc010ist.1)

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    1 AceView cDNA sequence:

    NM_033178 

    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

    DUX4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    Genevestigator expression for DUX4

    SOURCE GeneReport for Unigene cluster: Hs.553518

    UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2
    Tissue specificity: Does not seem to be expressed in normal muscle, but in muscle of individuals with FSHD, where it
    may be toxic to cells

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    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for DUX4

    (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 chordates.

    Orthologs for DUX4 gene from 1/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii mxtx26
    mxtx16
    mix-type homeobox gene 1
    20(a)
    19(a)
    many ↔ many
    many ↔ many
    12(30784435-30785976)
    13(21796925-21800415)


    ENSEMBL Gene Tree for DUX4 (if available)
    TreeFam Gene Tree for DUX4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DUX4 gene
    DUX4L21 2  DUX4L51 2  DUX4L61 2  DUX4L31 2  DUX4L71 2  DUX4L41 2  DUX2  ENSG000002143252  
    DUXA2  
    18/24 SIMAP similar genes for DUX4 using alignment to 25 protein entries:     DUX4_HUMAN (see all proteins) (see all similar genes):
    DUX4L2    DUX4L3    DUX4L5    DUX4L6    DUX4L7    DUX4L4
    DUX4L9    DUX2    DUX5    DUX1    DUX3    HPX-2
    CIC/DUX4 fusion    LHX3    MSX1    PRRX1    PITX2    PAX6

    DUX4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 20 variations for DUX4
         15/20 CNVs (see all 20): 65825 80737 75476 32686 71205 92763 71200 75474 85570 68911 37652 30527 80738 92759 80735
    Human Gene Mutation Database (HGMD): DUX4
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    (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.)
    About This Section

    DUX4 for disorders           About GeneDecksing

    OMIM gene information: 606009    OMIM disorders: --

    UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2
  • Defects in DUX4 may be the cause of facioscapulohumeral muscular dystrophy 1 (FSHD1) [MIM:158900]. A
  • degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and
    shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals
    usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily
    involving the orbicularis oris and orbicularis oculi muscles. Note=The disease is caused by deletion of an integral
    number of units of a 3.3-kb tandem repeats, termed D4Z4 macrosatellite, located on chromosome 4q35. In unaffected
    subjects, the D4Z4 array consists of 11-150 repeats, while in FSHD1 patients, the array is reduced to 1-10 repeats
    (PubMed:19320656). DUX4 is located in D4Z4 macrosatellite which is epigenetically repressed in somatic tissues. D4Z4
    chromatin relaxation in FSHD1 results in inefficient epigenetic repression of DUX4 and a variegated pattern of DUX4
    protein expression in a subset of skeletal muscle nuclei. Ectopic expression of DUX4 in skeletal muscle activates the
    expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell
    death

    7 diseases for DUX4:    About MalaCards
    facioscapulohumeral muscular dystrophy    muscular dystrophy    hepatocellular carcinoma    cervical cancer
    cervicitis    sarcoma    carcinoma

    Genetic Association Database (GAD): DUX4
    Human Genome Epidemiology (HuGE) Navigator: DUX4 (1 document)

    Export disorders for DUX4 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 DUX4 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with DUX4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Intracellular trafficking and dynamics of double homeodomain proteins. (PubMed id 15709750)1, 2, 9 Oestlund C.... Worman H.J. (2005)
    2. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. (PubMed id 10433963)1, 2 Gabrieels J.... Belayew A. (1999)
    3. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. (PubMed id 17984056)1, 9 Dixit M....Chen Y.W. (2007)
    4. Asymmetric bidirectional transcription from the FSHD-c ausing D4Z4 array modulates DUX4 production. (PubMed id 22536400)1 Block G.J....Miller D.G. (2012)
    5. Correlation analysis of clinical parameters with epige netic modifications in the DUX4 promoter in FSHD. (PubMed id 22522912)1 Balog J....van der Maarel S.M. (2012)
    6. DUX4 activates germline genes, retroelements, and immu ne mediators: implications for facioscapulohumeral dystrophy. (PubMed id 22209328)1 Geng L.N....Tapscott S.J. (2012)
    7. Immunodetection of human double homeobox 4. (PubMed id 21529284)1 Geng L.N....Tapscott S.J. (2011)
    8. The FSHD atrophic myotube phenotype is caused by DUX4 expression. (PubMed id 22053214)1 Vanderplanck C....Belayew A. (2011)
    9. A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy. (PubMed id 20724583)1 Lemmers R.J....van der Maarel S.M. (2010)
    10. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. (PubMed id 21060811)1 Snider L....Miller D.G. (2010)

    (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: 22947 HGNC: 3082 AceView: DUX4 Ensembl:ENSG00000258389 euGenes: HUgn22947
    ECgene: DUX4 H-InvDB: DUX4

    (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 DUX4 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 DUX4 gene:
    Search GeneIP for patents involving DUX4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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     DUX4 Proteins, Antibodies, CLIAs, and ELISAs
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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