Gene

DUX4L3

Species
Homo sapiens
Symbol
DUX4L3
Name
double homeobox 4 like 3 (pseudogene)
Synonyms
  • double homeobox 4 like 3
  • double homeobox protein 4-like protein 3
Biotype
pseudogene
Automated Description
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46123
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    Gene
    Association
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      Alleles and Variants

      Allele/Variant Symbol
      Allele Synonyms
      Category
      Variant
      Variant type
      Molecular consequence
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        Transgenic Alleles

        Species
        (carrying the transgene)
        Allele symbol
        Transgenic construct
        Expressed components
        Knock-down targets
        Regulatory regions
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCh38
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            190.0878M190.0880M190.0882M190.0884M190.0886M190.0888M

            Sequence Details

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            Expression

            Primary Sources
            None
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            DUX4L3 molecule type
            Interactor gene
            Interactor species
            Interactor molecule type
            Detection methods
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              Genetic Interactions

              DUX4L3 role
              DUX4L3 genetic perturbation
              Interactor gene
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              Interactor role
              Interactor genetic perturbation
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