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

DUX4L6 Gene

protein-coding   GIFtS: 31
GCID: GC04P191016

Double Homeobox 4 Like 6
  2 related diseases
at
MalaCards
 

Aliases
for DUX4L6 gene

(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 61 2
Double Homeobox Protein 4-Like Protein 62

External Ids:    HGNC: 372651   Entrez Gene: 6535442   Ensembl: ENSG000002586977   UniProtKB: P0CJ893   

Export aliases for DUX4L6 gene to outside databases

Previous GC identifers: GC04P190996 GC04P190997


Summaries
for DUX4L6 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
GeneCards Summary for DUX4L6 Gene: 
DUX4L6 (double homeobox 4 like 6) is a protein-coding gene. Diseases associated with DUX4L6 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 DUX4L3.

UniProtKB/Swiss-Prot: DU4L6_HUMAN, P0CJ89
Function: May be involved in transcriptional regulation (By similarity)




Genomic Views
for DUX4L6 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_000004.11  NT_016354.19  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for DUX4L6
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for DUX4L6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DUX4L6


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

DUX4L6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DUX4L6 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P191016:  view genomic region     (about GC identifiers)

Start:
 190,995,380 bp from pter      End:
 190,997,190 bp from pter
Size:
 1,811 bases      Orientation:
 plus strand

1 alternative location:
Chr4+,NW_003571034 167,161-168,771     

Proteins
for DUX4L6 gene

(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: DU4L6_HUMAN, P0CJ89 (See protein sequence)
Recommended Name: Double homeobox protein 4-like protein 6  
Size: 424 amino acids; 44926 Da
Subcellular location: Nucleus (By similarity)

Explore the universe of human proteins at neXtProt for DUX4L6: NX_P0CJ89

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P0CJ89

    • DUX4L6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_001120860.3  
    ENSEMBL proteins: 
     ENSP00000473969   ENSP00000451087   ENSP00000451253  

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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--

    DUX4L6 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for DUX4L6 gene

    (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 P0CJ89

    ProtoNet protein and cluster: P0CJ89

    UniProtKB/Swiss-Prot: DU4L6_HUMAN, P0CJ89
    Similarity: Contains 2 homeobox DNA-binding domains


    DUX4L6 for domains           About GeneDecksing


    Function
    for DUX4L6 gene

    (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: DU4L6_HUMAN, P0CJ89
    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 ----
         
    DUX4L6 for ontologies           About GeneDecksing


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    Pathways & Interactions
    for DUX4L6 gene

    (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 DUX4L6

    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 ----

    DUX4L6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DUX4L6 gene

    (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
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    Browse Tocris compounds for DUX4L6 (DU4L6)

    Search CenterWatch for drugs/clinical trials and news about DUX4L6 / DU4L6

    Transcripts
    for DUX4L6 gene

    (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 DUX4L6 gene: 
    NM_001127388.2  

    Unigene Cluster for DUX4L6:

    Double homeobox 4 like 6
    Hs.723089
    Unigene Representative Sequence: NM_001127388
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000605381 ENST00000553722 ENST00000555191(uc011cli.1)
    miRNA
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    Inhib. RNA
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    GeneLoc Exon Structure


    Expression
    for DUX4L6 gene

    (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

    DUX4L6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DUX4L6 Expression
    About this image


    Genevestigator expression for DUX4L6

    SOURCE GeneReport for Unigene cluster: Hs.723089
        SABiosciences Custom PCR Arrays for DUX4L6
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    In Situ
    Assay Products:     
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    Orthologs
    for DUX4L6 gene

    (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 DUX4L6 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 DUX4L6 (if available)
    TreeFam Gene Tree for DUX4L6 (if available)

    Paralogs
    for DUX4L6 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DUX4L6 gene
    DUX4L21 2  DUX4L51 2  DUX41 2  DUX4L31 2  DUX4L71 2  DUX4L41 2  DUX2  ENSG000002143252  
    DUXA2  
    14 SIMAP similar genes for DUX4L6 using alignment to 1 protein entry:     DU4L6_HUMAN:
    DUX4L2    DUX4L3    DUX4L5    DUX4L7    DUX4    DUX4L4
    DUX4L9    DUX2    DUX5    DUX1    HPX-2    DUX3
    DUXA    POU6F1

    DUX4L6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DUX4L6
    PGOHUM00000261375


    Genomic Variants
    for DUX4L6 gene

    (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 DUX4L6 (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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    Disorders / Diseases
    for DUX4L6 gene

    (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 DUX4L6:    About MalaCards
    facioscapulohumeral muscular dystrophy    muscular dystrophy

    1 disease from the University of Copenhagen DISEASES database for DUX4L6:
    Facioscapulohumeral muscular dystrophy

    DUX4L6 for disorders           About GeneDecksing


    Export disorders for DUX4L6 gene to outside databases

    Publications
    for DUX4L6 gene

    (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 DUX4L6 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DUX4L6)    		    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 double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3-kb dispersed repeated elements. (PubMed id 9736770)1 Ding H....Belayew A. (1998)
    8. 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)

    External Searches for DUX4L6 gene

    (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)

    Genome Databases showing DUX4L6 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 653544 HGNC: 37265 Ensembl:ENSG00000258697 euGenes: HUgn653544 ECgene: DUX4L6
    H-InvDB: DUX4L6

    Other Databases showing DUX4L6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DUX4L6 gene

    (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 DUX4L6 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for DUX4L6 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for DUX4L6 gene:
    Search GeneIP for patents involving DUX4L6

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



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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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