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

DUX4L3 Gene

protein-coding   GIFtS: 27
GCID: GC04P191035

Double Homeobox 4 Like 3

  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 31 2
Double Homeobox Protein 4-Like Protein 32

External Ids:    HGNC: 386881   Entrez Gene: 6535482   Ensembl: ENSG000002590347   UniProtKB: P0CJ863   

Export aliases for DUX4L3 gene to outside databases

Previous GC identifers: GC04P191009 GC04P191013 GC04P191020 GC04P191025 GC04P191030


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

GeneCards Summary for DUX4L3 Gene: 
DUX4L3 (double homeobox 4 like 3) is a protein-coding gene. Diseases associated with DUX4L3 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. An important paralog of this gene is DUX4L4.

UniProtKB/Swiss-Prot: DU4L3_HUMAN, P0CJ86
Function: May be involved in transcriptional regulation (By similarity)




(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
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for DUX4L3
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for DUX4L3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DUX4L3


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

DUX4L3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DUX4L3 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P191035:  view genomic region     (about GC identifiers)

Start:
191,008,560 bp from pter      End:
191,010,370 bp from pter
Size:
1,811 bases      Orientation:
plus strand

1 alternative location:
Chr4+,NW_003571034 180,341-181,951     

(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: DU4L3_HUMAN, P0CJ86 (See protein sequence)
Recommended Name: Double homeobox protein 4-like protein 3  
Size: 424 amino acids; 44926 Da
Subcellular location: Nucleus (By similarity)

Explore the universe of human proteins at neXtProt for DUX4L3: NX_P0CJ86

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P0CJ86

  • DUX4L3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_001157939.2  
    ENSEMBL proteins: 
     ENSP00000474418   ENSP00000451859   ENSP00000451798  

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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 IEA--

    DUX4L3 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 P0CJ86

    ProtoNet protein and cluster: P0CJ86

    UniProtKB/Swiss-Prot: DU4L3_HUMAN, P0CJ86
    Similarity: Contains 2 homeobox DNA-binding domains


    DUX4L3 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: DU4L3_HUMAN, P0CJ86
    Function: May be involved in transcriptional regulation (By similarity)

         Gene Ontology (GO): 4 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:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding ----
         
    DUX4L3 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 DUX4L3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----

    DUX4L3 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 DUX4L3 (DU4L3)

    Search CenterWatch for drugs/clinical trials and news about DUX4L3 / DU4L3

    (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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    About This Section

    REFSEQ mRNAs for DUX4L3 gene: 
    NM_001164467.2  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000605191 ENST00000557656 ENST00000554690(uc011clk.1)
    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™, 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

    DUX4L3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DUX4L3 Expression
    About this image


    Genevestigator expression for DUX4L3
        SABiosciences Custom PCR Arrays for DUX4L3
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DUX4L3

    (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 mammals.

    Orthologs for DUX4L3 gene from 1/2 species (see all 2)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia LOC1006837831 double homeobox protein 4-like protein 2-like 59.6(n)
    52.32(a)
      100683783  XM_003435433.1  XP_003435481.1 


    ENSEMBL Gene Tree for DUX4L3 (if available)
    TreeFam Gene Tree for DUX4L3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DUX4L3 gene
    DUX4L21 2  DUX4L51 2  DUX41 2  DUX4L61 2  DUX4L71 2  DUX4L41 2  DUX2  ENSG000002143252  
    DUXA2  
    14 SIMAP similar genes for DUX4L3 using alignment to 1 protein entry:     DU4L3_HUMAN:
    DUX4L2    DUX4L5    DUX4L6    DUX4L7    DUX4    DUX4L4
    DUX4L9    DUX2    DUX5    DUX1    HPX-2    DUX3
    DUXA    POU6F1

    DUX4L3 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
    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for DUX4L3 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv4n31CNV Duplication19718026
    nsv471357CNV Duplication19718026
    nsv471487CNV Duplication19718026
    nsv10641CNV Loss18304495
    nsv428243CNV Gain18775914
    nsv896428CNV Gain21882294
    nsv482152CNV Gain20164927
    esv23426CNV Gain+Loss19812545
    esv28562CNV Gain+Loss19812545
    nsv8752CNV Gain+Loss18304495

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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 DUX4L3:    About MalaCards
    facioscapulohumeral muscular dystrophy    muscular dystrophy


    DUX4L3 for disorders           About GeneDecksing


    Export disorders for DUX4L3 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 DUX4L3 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DUX4L3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. (PubMed id 17668377)1 Clapp J....Hewitt J.E. (2007)
    2. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. (PubMed id 17588759)1 Kowaljow V....Rosa A.L. (2007)
    3. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. (PubMed id 17984056)1 Dixit M....Chen Y.W. (2007)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
    5. Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements. (PubMed id 11245978)1 Beckers M.-C.... Belayew A. (2001)
    6. 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)
    7. Characterization of a tandemly repeated 3.3kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. (PubMed id 7739628)1 Lee J.... Arahata K. (1995)

    (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: 653548 HGNC: 38688 Ensembl:ENSG00000259034 euGenes: HUgn653548 ECgene: DUX4L3
    H-InvDB: DUX4L3

    (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 DUX4L3 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 DUX4L3 gene:
    Search GeneIP for patents involving DUX4L3

    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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     inGenious Targeting Laboratory - Custom generated mouse model solutions for DUX4L3
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DUX4L3
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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)
    transforming growth factor, beta 1
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