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DUX4L9 Gene

pseudogene   GIFtS: 23
GCID: GC04M190943

Double Homeobox 4 Like 9

  See DUX4L9-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)
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Aliases
Double Homeobox 4 Like 91 2
DUX4C2 3 5
DUX4c3
Double Homeobox Protein 4, Centromeric3
Double Homeobox Protein 4-Like Protein 93

External Ids:    HGNC: 338551   Entrez Gene: 5540452   Ensembl: ENSG000002248077   OMIM: 6155815   UniProtKB: Q6RFH83   

Export aliases for DUX4L9 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for DUX4L9 Gene:
DUX4L9 (double homeobox 4 like 9) is a pseudogene. Diseases associated with DUX4L9 include opioid abuse. 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). Down-regulates MYOD1 expression and may
up-regulate MYF5 expression. May regulate microRNA (miRNA) transcription, upregulating the expression of some
myogenic miRNAs, including MIR1-1, MIR133A2, MIR133B and MIR206. Impairs the differentiation of myoblasts and may
be involved in 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for DUX4L9
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Developmental stage: Up-regulated during myoblasts differentiation (at protein level)

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

Explore proteomics data for DUX4L9 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DUX4L9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PRD: Homeoboxes / PRD class

    3 InterPro protein domains:
     IPR000047 HTH_motif
     IPR001356 Homeobox_dom
     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


    Find genes that share domains with DUX4L9           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DUX4C_HUMAN, Q6RFH8
    Function: May be involved in transcriptional regulation (By similarity). Down-regulates MYOD1 expression and may
    up-regulate MYF5 expression. May regulate microRNA (miRNA) transcription, upregulating the expression of some
    myogenic miRNAs, including MIR1-1, MIR133A2, MIR133B and MIR206. Impairs the differentiation of myoblasts and may
    be involved in muscle regeneration

         Gene Ontology (GO): 3 molecular function terms:    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
         
    Find genes that share ontologies with DUX4L9           About GenesLikeMe


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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DUX4C_HUMAN, Q6RFH8: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19829708

    Find genes that share ontologies with DUX4L9           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DUX4L9
    Interactions:

        Search GeneGlobe Interaction Network for DUX4L9

    Gene Ontology (GO): 3 biological process terms:    About this table

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

    Find genes that share ontologies with DUX4L9           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DUX4L9 (DUX4C)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DUX4L9 gene (2 alternative transcripts): 
    NM_001023569.1  NM_001099853.1  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000449051
    miRNA
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    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    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

    DUX4L9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DUX4L9 Protein Expression

    UniProtKB/Swiss-Prot: DUX4C_HUMAN, Q6RFH8
    Tissue specificity: Expressed in muscles, as well as in primary myoblasts and myotubes (at protein level)

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    In Situ
    Assay Products:
     

     
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    (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)
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      --

    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)
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    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

    Find genes that share paralogs with DUX4L9           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DUX4L9 (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: --
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing DUX4L9
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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.)
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    OMIM gene information: 615581    OMIM disorders: --

    UniProtKB/Swiss-Prot: DUX4C_HUMAN, Q6RFH8
  • Note=Up-regulated in myoblasts of facioscapulohumeral muscular dystrophy (FSHD) patients (at protein
    level) (PubMed:19829708)

  • 1 disease for DUX4L9:    
    About MalaCards
    opioid abuse

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

    Find genes that share disorders with DUX4L9           About GenesLikeMe


    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)
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    PubMed articles for DUX4L9 gene, integrated from 10 sources (see all 11):
    (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 protein and human myoblast proliferation. (PubMed id 19829708)1, 2 Ansseau E.... Coppee F. (PLoS ONE 2009)
    2. DUX4c, an FSHD candidate gene, interferes with myogenic regulators and abolishes myoblast differentiation. (PubMed id 18723017)1, 2 Bosnakovski D....Kyba M. (Exp. Neurol. 2008)
    3. Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients. (PubMed id 24145033)2 Dmitriev P.... Vassetzky Y.S. (J. Biol. Chem. 2013)
    4. The KrA1ppel-like factor 15 as a molecular link between myogenic factors and a chromosome 4q transcriptional enhancer implicated in facioscapulohumeral dystrophy. (PubMed id 21937448)1 Dmitriev P....Vassetzky Y.S. (J. Biol. Chem. 2011)
    5. Testing the effects of FSHD candidate gene expression in vertebrate muscle development. (PubMed id 20490329)1 Wuebbles R.D....Jones P.L. (Int J Clin Exp Pathol 2010)
    6. Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation. (PubMed id 19607661)1 Bodega B....Ginelli E. (BMC Biol. 2009)
    7. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    8. 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. (Gene 1999)
    9. 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. (Genomics 1995)
    10. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. (PubMed id 7987304)1 Hewitt J.E.... Williamson R. (Hum. Mol. Genet. 1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 554045 HGNC: 33855 Ensembl:ENSG00000224807 euGenes: HUgn554045 ECgene: DUX4L9
    H-InvDB: DUX4L9

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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