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    DUX4L9 double homeobox 4 like 9 (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 100288711, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DUX4L9provided by HGNC
    Official Full Name
    double homeobox 4 like 9 (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:33855
    See related
    Ensembl:ENSG00000224807 MIM:615581; AllianceGenome:HGNC:33855
    Gene type
    pseudo
    RefSeq status
    INFERRED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DUX4C
    Summary
    Enables transcription cis-regulatory region binding activity. Involved in cell population proliferation and positive regulation of transcription by RNA polymerase II. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
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    Genomic context

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    See DUX4L9 in Genome Data Viewer
    Location:
    4q35.2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (190021169..190022665, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (193389387..193390883, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (190942324..190943820, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 174 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:190937742-190937939 Neighboring gene RNA, 5S ribosomal pseudogene 175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:190942591-190943245 Neighboring gene FSHD region gene 2 Neighboring gene retinoic acid receptor responder 2 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins. Claus C, et al. Skelet Muscle, 2023 Mar 7. PMID 36882853, Free PMC Article
    2. Testing the effects of FSHD candidate gene expression in vertebrate muscle development. Wuebbles RD, et al. Int J Clin Exp Pathol, 2010 Mar 28. PMID 20490329, Free PMC Article
    3. Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. Hewitt JE, et al. Hum Mol Genet, 1994 Aug. PMID 7987304
    4. Fine mapping of the FSHD gene region orientates the rearranged fragment detected by the probe p13E-11. Wright TJ, et al. Hum Mol Genet, 1993 Oct. PMID 7903581
    5. 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. Lyle R, et al. Genomics, 1995 Aug 10. PMID 7490072

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins.
      Title: The double homeodomain protein DUX4c is associated with regenerating muscle fibers and RNA-binding proteins.
    2. Interactions between DUX4 and DUX4c with cytoplasmic proteins play a major role during muscle differentiation.
      Title: Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Other Names

    • double homeobox 4 pseudogene
    • double homeobox 4c

    NCBI Reference Sequences (RefSeq)

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    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_027951.5 

      Range
      101..1597
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    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
      190021169..190022665 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_015495300.1 Reference GRCh38.p14 PATCHES

      Range
      113770..115266 complement
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_015495301.1 Reference GRCh38.p14 PATCHES

      Range
      113770..115266 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_187650.1 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      358700..360196 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      193389387..193390883 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001023569.1: Suppressed sequence

      Description
      NM_001023569.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.

    2. NM_001099853.1: Suppressed sequence

      Description
      NM_001099853.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version

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