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DUX4L5 double homeobox 4 like 5 (pseudogene) [ Homo sapiens (human) ]

Gene ID: 653545, updated on 8-Nov-2023

Summary

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Official Symbol
DUX4L5provided by HGNC
Official Full Name
double homeobox 4 like 5 (pseudogene)provided by HGNC
Primary source
HGNC:HGNC:38689
See related
Ensembl:ENSG00000280799 AllianceGenome:HGNC:38689
Gene type
pseudo
RefSeq status
INFERRED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (190077818..190079102)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (193445949..193447233)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (190998973..191000257)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene double homeobox 4 like 7 (pseudogene) Neighboring gene double homeobox 4 like 6 (pseudogene) Neighboring gene double homeobox 4 like 4 (pseudogene) Neighboring gene double homeobox 4 like 1 (pseudogene)

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 DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. Kowaljow V, et al. Neuromuscul Disord, 2007 Aug. PMID 17588759
  2. 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
  3. 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
  4. 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
  5. Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. Clapp J, et al. Am J Hum Genet, 2007 Aug. PMID 17668377, Free PMC Article

See all (6) 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 5

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_034191.1 

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    190077818..190079102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_015495300.1 Reference GRCh38.p14 PATCHES

    Range
    170468..171752
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_015495301.1 Reference GRCh38.p14 PATCHES

    Range
    170468..171752
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    193445949..193447233
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001127389.2: Suppressed sequence

    Description
    NM_001127389.2: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
Nucleotide Protein
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