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

DUX4L9 Gene

pseudogene   GIFtS: 25
GCID: GC04M190943

Double Homeobox 4 Like 9

  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
Double Homeobox 4 Like 91 2
DUX4C2 3
DUX4c3
Double Homeobox Protein 4-Like Protein 93

External Ids:    HGNC: 338551   Entrez Gene: 5540452   Ensembl: ENSG000002248077   UniProtKB: Q6RFH83   

Export aliases for DUX4L9 gene to outside databases


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

GeneCards Summary for DUX4L9 Gene: 
DUX4L9 (double homeobox 4 like 9) is a pseudogene. Diseases associated with DUX4L9 include facioscapulohumeral muscular dystrophy, and muscular dystrophy. GO annotations related to this gene include transcription regulatory region sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity.

UniProtKB/Swiss-Prot: DUX4C_HUMAN, Q6RFH8
Function: May be involved in transcriptional regulation (By similarity). May play a role in cell proliferation
specifically in the process of muscle regeneration




(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_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for DUX4L9
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for DUX4L9

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DUX4L9


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

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

DUX4L9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DUX4L9 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M190943:  view genomic region     (about GC identifiers)

Start:
190,940,255 bp from pter      End:
190,945,506 bp from pter
Size:
5,252 bases      Orientation:
minus strand

1 alternative location:
Chr4-,NW_003571034 112,030-115,748     

(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.,
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About This Section

UniProtKB/Swiss-Prot: DUX4C_HUMAN, Q6RFH8 (See protein sequence)
Recommended Name: Double homeobox protein 4C  
Size: 374 amino acids; 39442 Da
Subunit: May interact with MYF5; regulates MYF5 expression
Subcellular location: Nucleus
Developmental stage: Up-regulated during myoblasts differentiation (at protein level)
Miscellaneous: Up-regulated in myoblasts of facioscapulohumeral muscular dystrophy (FSHD) patients (at protein
level)

Explore the universe of human proteins at neXtProt for DUX4L9: NX_Q6RFH8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6RFH8

  • DUX4L9 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19829708

    DUX4L9 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: 
    PRD: Homeoboxes / PRD class

    3 InterPro protein domains:
     IPR000047 HTH_motif
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q6RFH8

    ProtoNet protein and cluster: Q6RFH8

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

    UniProtKB/Swiss-Prot: DUX4C_HUMAN, Q6RFH8
    Similarity: Contains 2 homeobox DNA-binding domains


    DUX4L9 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: DUX4C_HUMAN, Q6RFH8
    Function: May be involved in transcriptional regulation (By similarity). May play a role in cell proliferation
    specifically in the process of muscle regeneration

         Gene Ontology (GO): 3 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--
    GO:0005515protein binding IPI19829708
         
    DUX4L9 for ontologies           About GeneDecksing


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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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DUX4L9

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0008283cell proliferation IDA19829708
    GO:0010468regulation of gene expression IDA19829708

    DUX4L9 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 DUX4L9 (DUX4C)

    Search CenterWatch for drugs/clinical trials and news about DUX4L9

    (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,
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    About This Section

    REFSEQ mRNAs for DUX4L9 gene (2 alternative transcripts): 
    NM_001023569.1  NM_001099853.1  

    Unigene Cluster for DUX4L9:

    Double homeobox 4 like 9
    Hs.742140
    Unigene Representative Sequence: XR_109820
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000449051
    miRNA
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    Additional mRNA sequence: 

    XR_109820.2 XR_132460.2 XR_133387.1 

    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

    DUX4L9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DUX4L9 Expression
    About this image


    SOURCE GeneReport for Unigene cluster: Hs.742140

    UniProtKB/Swiss-Prot: DUX4C_HUMAN, Q6RFH8
    Tissue specificity: Expressed in myocytes (at protein level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DUX4L9

    (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
      --

    ENSEMBL Gene Tree for DUX4L9 (if available)
    TreeFam Gene Tree for DUX4L9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DUX4L9 gene
    14 SIMAP similar genes for DUX4L9 using alignment to 1 protein entry:     DUX4C_HUMAN:
    DUX4L2    DUX4L3    DUX4L5    DUX4L6    DUX4L7    DUX4
    DUX2    DUX4L4    DUX5    DUX1    HPX-2    DUX3
    DUXA    POU6F1

    DUX4L9 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

    10/366 SNPs in DUX4L9 are shown (see all 366)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs797399731,2
    C--190692512(+) GTGGTG/AGTGGT 1 -- ds50011Minor allele frequency- A:0.50NA 2
    rs1412929341,2
    C--190692537(+) TGTCCC/GTCAGC 1 -- ds50010--------
    rs784050611,2
    C--190692547(+) CCCCTG/CTTTCC 1 -- ds50011Minor allele frequency- C:0.50NA 2
    rs756194841,2
    C--190692554(+) CCGGG-/GATCAG 1 -- ds50010--------
    rs753451521,2
    C--190692568(+) CTGCCG/AGGGCT 1 -- ds50011Minor allele frequency- A:0.50NA 2
    rs750450831,2
    --190692588(+) GCGCGG/TGACAA 1 -- ds50011Minor allele frequency- T:0.50NA 2
    rs727248831,2
    C--190692590(+) GCGGGG/ACAAAG 1 -- ds50011Minor allele frequency- A:0.00NA 2
    rs762805601,2
    --190692596(+) CAAAGC/AAGGGC 1 -- ds50011Minor allele frequency- A:0.50NA 2
    rs727248851,2
    C--190692599(+) AGCAGA/GGCCTT 1 -- ds50010--------
    rs1153279481,2
    C--190692613(+) GCCCCC/GTTGGC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for DUX4L9 (190940255 - 190945506 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for DUX4L9: --
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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
    2 diseases for DUX4L9:    About MalaCards
    facioscapulohumeral muscular dystrophy    muscular dystrophy

    1 disease from the University of Copenhagen DISEASES database for DUX4L9:
    Facioscapulohumeral muscular dystrophy

    DUX4L9 for disorders           About GeneDecksing


    Export disorders for DUX4L9 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 DUX4L9 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DUX4L9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. DUX4c is up-regulated in FSHD. It induces the MYF5 pr otein and human myoblast proliferation. (PubMed id 19829708)1, 2 Ansseau E....CoppAce F. (2009)
    2. The KrA1ppel-like factor 15 as a molecular link betwee n myogenic factors and a chromosome 4q transcriptional enhancer implicated in f acioscapulohumeral dystrophy. (PubMed id 21937448)1 Dmitriev P....Vassetzky Y.S. (2011)
    3. Testing the effects of FSHD candidate gene expression in vertebrate muscle development. (PubMed id 20490329)1 Wuebbles R.D....Jones P.L. (2010)
    4. Remodeling of the chromatin structure of the faciosca pulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related ge ne 1 (FRG1) expression during human myogenic differentiation. (PubMed id 19607661)1 Bodega B....Ginelli E. (2009)
    5. DUX4c, an FSHD candidate gene, interferes with myogeni c regulators and abolishes myoblast differentiation. (PubMed id 18723017)1 Bosnakovski D....Kyba M. (2008)
    6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    7. 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 Gabrieels J.... Belayew A. (1999)
    8. The FSHD-associated repeat, D4Z4, is a member of a dispersed family of homeobox-containing repeats, subsets of which are clustered on the short arms of the acrocentric chromosomes. (PubMed id 7490072)1 Lyle R.... Hewitt J.E. (1995)
    9. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. (PubMed id 7987304)1 Hewitt J.E.... Williamson R. (1994)
    10. Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. (PubMed id 7903581)1 Wright T.J....Hewitt J.E. (1993)

    (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: 554045 HGNC: 33855 Ensembl:ENSG00000224807 euGenes: HUgn554045 ECgene: DUX4L9
    H-InvDB: DUX4L9

    (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
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for DUX4L9 gene:
    Search GeneIP for patents involving DUX4L9

    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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
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    About This Section

     
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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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    (GIFtS: 73)
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