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    DUX4 double homeobox 4 [ Homo sapiens (human) ]

    Gene ID: 100288687, updated on 10-Dec-2024

    Summary

    Official Symbol
    DUX4provided by HGNC
    Official Full Name
    double homeobox 4provided by HGNC
    Primary source
    HGNC:HGNC:50800
    See related
    Ensembl:ENSG00000260596 MIM:606009; AllianceGenome:HGNC:50800
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DUX4L
    Summary
    This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
    Annotation information
    Note: GeneID: 22947 was previously named DUX4/double homeobox 4. GeneID: 100288687 is currently assigned the official DUX4/double homeobox 4 gene name. [19 Jun 2018]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DUX4 in Genome Data Viewer
    Location:
    4q35.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (190173774..190185911)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (193541579..193553139)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) Unplaced Scaffold NT_167222.1 (112605..124171)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene double homeobox 4 like 2 (pseudogene) Neighboring gene uncharacterized LOC107986338 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:191029654-191030192 Neighboring gene ribosomal protein L23a pseudogene 84

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    double homeobox protein 4
    Names
    double homeobox protein 10
    double homeobox protein 4/10

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_034189.3 RefSeqGene

      Range
      1701..3772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1075

    mRNA and Protein(s)

    1. NM_001293798.3NP_001280727.1  double homeobox protein 4 isoform DUX4-fl

      See identical proteins and their annotated locations for NP_001280727.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate segment in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (DUX4-fl).
      Source sequence(s)
      AC215524, HQ266760
      Consensus CDS
      CCDS77990.1
      UniProtKB/Swiss-Prot
      E2JJS1, P0CJ85, P0CJ86, P0CJ88, P0CJ89, P0CJ90, Q9UBX2
      UniProtKB/TrEMBL
      C3U3A0
      Related
      ENSP00000456539.1, ENST00000569241.5
      Conserved Domains (2) summary
      pfam00046
      Location:97149
      Homeobox; Homeobox domain
      cl26386
      Location:141319
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    2. NM_001306068.3NP_001292997.1  double homeobox protein 4 isoform DUX4-fl

      See identical proteins and their annotated locations for NP_001292997.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (DUX4-fl). Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AC215524, HQ266761, HQ266762
      Consensus CDS
      CCDS77990.1
      UniProtKB/Swiss-Prot
      E2JJS1, P0CJ85, P0CJ86, P0CJ88, P0CJ89, P0CJ90, Q9UBX2
      UniProtKB/TrEMBL
      C3U3A0
      Related
      ENSP00000458065.1, ENST00000565211.1
      Conserved Domains (2) summary
      pfam00046
      Location:97149
      Homeobox; Homeobox domain
      cl26386
      Location:141319
      DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    3. NM_001363820.2NP_001350749.1  double homeobox protein 4 isoform DUX4-s

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks a large portion of the coding region compared to variant 1. The resulting isoform (DUX4-s) has a shorter and distinct C-terminus compared to isoform DUX4-fl.
      Source sequence(s)
      AC215524
      Consensus CDS
      CCDS93681.1
      UniProtKB/TrEMBL
      I0EZ61
      Related
      ENSP00000455112.1, ENST00000570263.5
      Conserved Domains (2) summary
      cd00086
      Location:2578
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.
      pfam00046
      Location:97149
      Homeobox; Homeobox domain

    RNA

    1. NR_137167.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has multiple differences in the 3' end compared to variant 1, including a distinct 3' terminus. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      HQ266760, HQ266765

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      190173774..190185911
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_015495300.1 Reference GRCh38.p14 PATCHES

      Range
      200222..211788
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      193541579..193553139
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001205218.1: Suppressed sequence

      Description
      NM_001205218.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
    2. NM_001278056.1: Suppressed sequence

      Description
      NM_001278056.1: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
    3. NR_038191.1: Suppressed sequence

      Description
      NR_038191.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.