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    DUX4L2 double homeobox 4 like 2 (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 728410, updated on 27-Aug-2024

    Summary

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    Official Symbol
    DUX4L2provided by HGNC
    Official Full Name
    double homeobox 4 like 2 (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:37267
    See related
    Ensembl:ENSG00000280457 AllianceGenome:HGNC:37267
    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
    DUX4
    Summary
    This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length and 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. There is no evidence for transcription of the gene at this locus though RT-PCR and in vitro expression experiments indicate that a telomeric paralog of this gene is transcribed in some haplotypes. Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]
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    Genomic context

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    Location:
    4q35.2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (190091005..190092289)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (193459140..193460424)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (191012160..191013444)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene double homeobox 4 like 1 (pseudogene) Neighboring gene double homeobox 4 like 3 (pseudogene) Neighboring gene uncharacterized LOC107986338 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:191029654-191030192 Neighboring gene double homeobox 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. RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. Snider L, et al. Hum Mol Genet, 2009 Jul 1. PMID 19359275, Free PMC Article
    2. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Kowaljow V, et al. Neuromuscul Disord, 2007 Aug. PMID 17588759
    3. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. Dixit M, et al. Proc Natl Acad Sci U S A, 2007 Nov 13. PMID 17984056, Free PMC Article
    4. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. Gabriëls J, et al. Gene, 1999 Aug 5. PMID 10433963
    5. Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. Lee JH, et al. Muscle Nerve Suppl, 1995. PMID 7739628

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    General gene information

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    Other Names

    • double homeobox protein 4-like protein 2

    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_034178.2 

      Range
      101..1385
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      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
      190091005..190092289
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_015495300.1 Reference GRCh38.p14 PATCHES

      Range
      183692..184976
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_015495301.1 Reference GRCh38.p14 PATCHES

      Range
      183692..184976
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      193459140..193460424
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      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001127386.2: Suppressed sequence

      Description
      NM_001127386.2: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
    Nucleotide Protein
    Heading Accession and Version

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