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DUX4L4 Gene

protein-coding   GIFtS: 31
GCID: GC04P191040

Double Homeobox 4 Like 4

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(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 41 2
Double Homeobox Protein 4-Like Protein 42

External Ids:    HGNC: 386861   Entrez Gene: 4410562   Ensembl: ENSG000002588347   UniProtKB: P0CJ873   

Export aliases for DUX4L4 gene to outside databases

Previous GC identifers: GC04P191003 GC04P191007 GC04P191018 GC04P191023 GC04P191028 GC04P191033


(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 DUX4L4 Gene:
DUX4L4 (double homeobox 4 like 4) is a protein-coding gene. 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: DU4L4_HUMAN, P0CJ87
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 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 DUX4L4
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for DUX4L4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DUX4L4


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

DUX4L4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DUX4L4 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P191040:  view genomic region     (about GC identifiers)

Start:
191,001,979 bp from pter      End:
191,003,777 bp from pter
Size:
1,799 bases      Orientation:
plus strand

1 alternative location:
Chr4+,NW_003571034 173,754-175,358     

(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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DU4L4_HUMAN, P0CJ87 (See protein sequence)
Recommended Name: Double homeobox protein 4-like protein 4  
Size: 422 amino acids; 44826 Da

Explore the universe of human proteins at neXtProt for DUX4L4: NX_P0CJ87

Explore proteomics data for DUX4L4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DUX4L4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001170847.2  
    ENSEMBL proteins: 
     ENSP00000474688   ENSP00000451270   ENSP00000438513  

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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 P0CJ87

    ProtoNet protein and cluster: P0CJ87

    UniProtKB/Swiss-Prot: DU4L4_HUMAN, P0CJ87
    Similarity: Contains 2 homeobox DNA-binding domains


    Find genes that share domains with DUX4L4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: DU4L4_HUMAN, P0CJ87
    Function: May be involved in transcriptional regulation (By similarity)

         Gene Ontology (GO): 4 molecular function terms:    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 ----
         
    Find genes that share ontologies with DUX4L4           About GenesLikeMe


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       genOway: Develop your customized and physiologically relevant rodent model for DUX4L4

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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
    DU4L4_HUMAN, P0CJ87: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3

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

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

    Find genes that share ontologies with DUX4L4           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 DUX4L4
    Interactions:

        Search GeneGlobe Interaction Network for DUX4L4

    Gene Ontology (GO): 2 biological process terms:    About this table

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

    Find genes that share ontologies with DUX4L4           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
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    Browse Tocris compounds for DUX4L4 (DU4L4)



    (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 DUX4L4 gene: 
    NM_001177376.2  

    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000604656 ENST00000554637 ENST00000538692(uc021xvr.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™, 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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    DUX4L4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DUX4L4 Expression
    About this image

    DUX4L4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DUX4L4 Protein Expression
        Custom PCR Arrays for DUX4L4
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    In Situ
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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 DUX4L4 (if available)
    TreeFam Gene Tree for DUX4L4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DUX4L4 gene
    LOC102723538  LOC102723495  LOC102723449  LOC102723472  LOC102723423  LOC102723518  DUX4L21 2  DUX4L31 2  
    DUX2  DUX4L71 2  DUX41 2  DUX4L61 2  DUX4L51 2  LOC100287823  ENSG000002143252  DUXA2  
    15 SIMAP similar genes for DUX4L4 using alignment to 2 protein entries:     DU4L4_HUMAN (see all proteins):
    DUX4L2    DUX4L3    DUX4L5    DUX4L6    DUX4L7    DUX4
    DUX2    DUX4L9    DUX5    DUX1    HPX-2    DUX3
    DUXA    POU6F1    NKX2-5

    Find genes that share paralogs with DUX4L4           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for DUX4L4 (see all 9)
    PGOHUM00000238972 PGOHUM00000250994 PGOHUM00000259926 PGOHUM00000246167 PGOHUM00000262512


    (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 DUX4L4 (see all 62)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs724999981,2
    C--1(+) GAAGCC/TCCACC 2 A syn10--------
    rs745546901,2
    C--1(+) GGGGAA/G/TTCCGT 1 N mis12NA EU 139
    rs758254921,2
    C,F--1(+) GCGTGG/AGAACC 2 /* /W stg11Minor allele frequency- A:0.03EU 137
    rs777507401,2
    C,F--1(+) GGCTGG/TGGCCG 2 W C mis12Minor allele frequency- T:0.08NA EU 111
    rs795576051,2
    C,F--1(+) TGGGGA/C/TTGGGG 1 G syn12NA EU 191
    rs1809072171,2
    C--1(+) CCTGGA/CACACT 1 -- us2k10--------
    rs1858140741,2
    C--1(+) CATCTC/TCTCTC 1 -- us2k10--------
    rs1920342451,2
    C--1(+) TGGACA/CCCGAG 2 T syn10--------
    rs1995974151,2
    F--1(+) CAGGTA/C/TGCTGG 3 V syn11EU 128
    rs2005064951,2
    F--1(+) GGCGGC/TGTGGG 2 A V mis11Minor allele frequency- T:0.06EU 103

    HapMap Linkage Disequilibrium report for DUX4L4 (191001979 - 191003777 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DUX4L4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv471487CNV Duplication19718026
    nsv10641CNV Loss18304495
    esv23426CNV Gain+Loss19812545

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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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    1 disease from the University of Copenhagen DISEASES database for DUX4L4:
    Facioscapulohumeral muscular dystrophy

    Find genes that share disorders with DUX4L4           About GenesLikeMe


    Export disorders for DUX4L4 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 DUX4L4 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with DUX4L4)
        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. (Am. J. Hum. Genet. 2007)
    2. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. (PubMed id 17588759)1 Kowaljow V....Rosa A.L. (Neuromuscul. Disord. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (Nature 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. (Gene 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. (Gene 1999)
    7. Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. (PubMed id 7739628)1 Lee J.... Arahata K. (Muscle Nerve 1995)

    (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: 441056 HGNC: 38686 AceView: DUX4 Ensembl:ENSG00000258834 euGenes: HUgn441056
    ECgene: DUX4L4 H-InvDB: DUX4L4

    (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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    NameDescription
    PharmGKB entry for DUX4L4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DUX4L4 gene:
    Search GeneIP for patents involving DUX4L4

    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, eBioscience, antibodies-online, 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
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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