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Aliases for DUX4 Gene

Aliases for DUX4 Gene

  • Double Homeobox 4 2 3
  • Double Homeobox Protein 10 3 4
  • Double Homeobox Protein 4/10 3
  • Double Homeobox Protein 4 3
  • Double Homeobox 4-Like 3
  • DUX4L 3
  • DUX10 4

External Ids for DUX4 Gene

Previous GeneCards Identifiers for DUX4 Gene

  • GC04P192017
  • GC10P134609
  • GC04P191585
  • GC04P191697
  • GC04P191683
  • GC04P191376
  • GC04P191232
  • GC04P191240
  • GC04P191251
  • GC04P191254
  • GC04P191257
  • GC04P191260
  • GC04P191005

Summaries for DUX4 Gene

Entrez Gene Summary for DUX4 Gene

  • 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. There is no evidence for transcription of this gene from standard cDNA libraries, however, RT-PCR and in vitro expression experiments indicate that the ORF is transcribed. 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). [provided by RefSeq, Jun 2014]

GeneCards Summary for DUX4 Gene

DUX4 (Double Homeobox 4) is a Protein Coding gene. Diseases associated with DUX4 include facioscapulohumeral muscular dystrophy 1 and embryonal rhabdomyosarcoma. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription regulatory region sequence-specific DNA binding.

UniProtKB/Swiss-Prot for DUX4 Gene

  • Involved in transcriptional regulation. May regulate microRNA (miRNA) expression.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DUX4 Gene

Genomics for DUX4 Gene

Genomic Location for DUX4 Gene

190,173,774 bp from pter
190,185,942 bp from pter
12,169 bases
Plus strand

Genomic View for DUX4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DUX4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DUX4 Gene

No data available for Regulatory Elements for DUX4 Gene

Proteins for DUX4 Gene

  • Protein details for DUX4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Double homeobox protein 4
    Protein Accession:
    Secondary Accessions:

    Protein attributes for DUX4 Gene

    424 amino acids
    Molecular mass:
    44940 Da
    Quaternary structure:
    • May exist as a monomer or a dimer
    • DUX genes are present in 3.3-kilobase elements, a tandem repeat family scattered in the genome found on the short arms of all acrocentric chromosomes as well as on several other chromosomes

neXtProt entry for DUX4 Gene

Proteomics data for DUX4 Gene at MOPED

Post-translational modifications for DUX4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DUX4 Gene

No data available for DME Specific Peptides for DUX4 Gene

Domains for DUX4 Gene

Protein Domains for DUX4 Gene

Suggested Antigen Peptide Sequences for DUX4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Q9UBX2
  • Both homeobox domains confer nuclear targeting
  • Contains 2 homeobox DNA-binding domains.
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with DUX4: view

No data available for Gene Families for DUX4 Gene

Function for DUX4 Gene

Molecular function for DUX4 Gene

GENATLAS Biochemistry: double homeo box protein 4 in the partially deleted D4Z4 locus (FSHD)
UniProtKB/Swiss-Prot Function: Involved in transcriptional regulation. May regulate microRNA (miRNA) expression.

Gene Ontology (GO) - Molecular Function for DUX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 17984056
GO:0003677 DNA binding --
genes like me logo Genes that share ontologies with DUX4: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for DUX4 Gene

Localization for DUX4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DUX4 Gene

Nucleus. Note=Actively transported through the nuclear pore complex (NPC).

Gene Ontology (GO) - Cellular Components for DUX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 17984056
GO:0005654 nucleoplasm IDA 17588759
GO:0031965 nuclear membrane IDA 17588759
genes like me logo Genes that share ontologies with DUX4: view

No data available for Subcellular locations from COMPARTMENTS for DUX4 Gene

Pathways for DUX4 Gene

SuperPathways for DUX4 Gene

No Data Available

Interacting Proteins for DUX4 Gene

Gene Ontology (GO) - Biological Process for DUX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006915 apoptotic process IDA 17588759
GO:0008285 negative regulation of cell proliferation IDA 24589735
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IDA 17984056
GO:0070317 negative regulation of G0 to G1 transition IDA 24589735
genes like me logo Genes that share ontologies with DUX4: view

No data available for Pathways by source for DUX4 Gene

Transcripts for DUX4 Gene

mRNA/cDNA for DUX4 Gene

(5) REFSEQ mRNAs :
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for DUX4 Gene

No ASD Table

Relevant External Links for DUX4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DUX4 Gene

mRNA expression in normal human tissues for DUX4 Gene

mRNA Expression by UniProt/SwissProt for DUX4 Gene

Tissue specificity: Does not seem to be expressed in normal muscle, but is detected in muscle of individuals with FSHD, and also in testis (at protein level) (PubMed:21060811). Does not seem to be expressed in normal muscle, but in muscle of individuals with FSHD, where it may be toxic to cells.
genes like me logo Genes that share expressions with DUX4: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein expression for DUX4 Gene

Orthologs for DUX4 Gene

Evolution for DUX4 Gene

Gene Tree for DUX4 (if available)
Gene Tree for DUX4 (if available)

No data available for Orthologs for DUX4 Gene

Paralogs for DUX4 Gene

genes like me logo Genes that share paralogs with DUX4: view

No data available for Paralogs for DUX4 Gene

Variants for DUX4 Gene

Sequence variations from dbSNP and Humsavar for DUX4 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs7078912 -- 190,176,186(+) cttga(A/C)aaggg downstream-variant-500B
rs7085481 -- 190,176,115(+) agtgt(A/G)gacaa downstream-variant-500B
rs7085652 -- 190,176,264(+) ggtta(A/C)atcgc downstream-variant-500B
rs7089199 -- 190,175,727(+) aattc(C/T)ggctg utr-variant-3-prime, nc-transcript-variant
rs7089836 -- 190,176,152(+) cagag(A/T)tatgt downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for DUX4 Gene

Variant ID Type Subtype PubMed ID
nsv428243 CNV Gain 18775914
esv28562 CNV Gain+Loss 19812545
nsv8752 CNV Gain+Loss 18304495
nsv896428 CNV Gain 21882294
nsv442214 CNV CNV 18776908
dgv4n31 CNV Duplication 19718026
nsv471357 CNV Duplication 19718026
nsv482152 CNV Gain 20164927
nsv10641 CNV Loss 18304495
nsv471487 CNV Duplication 19718026
esv23426 CNV Gain+Loss 19812545

Relevant External Links for DUX4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DUX4 Gene

Disorders for DUX4 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for DUX4 Gene including...

Search for DUX4 Gene in MalaCards »


  • Facioscapulohumeral muscular dystrophy 1 (FSHD1) [MIM:158900]: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. {ECO:0000269 PubMed:10433963, ECO:0000269 PubMed:19320656}. Note=The gene represented in this entry is involved in disease pathogenesis. The disease is caused by deletion of an integral number of units of a 3.3-kb tandem repeats, termed D4Z4 macrosatellite, located on chromosome 4q35. In unaffected subjects, the D4Z4 array consists of 11-150 repeats, while in FSHD1 patients, the array is reduced to 1-10 repeats (PubMed:19320656). DUX4 is located in D4Z4 macrosatellite which is epigenetically repressed in somatic tissues. D4Z4 chromatin relaxation in FSHD1 results in inefficient epigenetic repression of DUX4 and a variegated pattern of DUX4 protein expression in a subset of skeletal muscle nuclei. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death. {ECO:0000269 PubMed:19320656}.

Relevant External Links for DUX4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with DUX4: view

Publications for DUX4 Gene

  1. Intracellular trafficking and dynamics of double homeodomain proteins. (PMID: 15709750) Oestlund C. … Worman H.J. (Biochemistry 2005) 3 4
  2. Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. (PMID: 10433963) Gabrieels J. … Belayew A. (Gene 1999) 3 4
  3. Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. (PMID: 19320656) Mostacciuolo M.L. … Trevisan C.P. (Clin. Genet. 2009) 3 4
  4. Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients. (PMID: 24145033) Dmitriev P. … Vassetzky Y.S. (J. Biol. Chem. 2013) 3 4
  5. A unifying genetic model for facioscapulohumeral muscular dystrophy. (PMID: 20724583) Lemmers R.J. … van der Maarel S.M. (Science 2010) 2 3

Products for DUX4 Gene

Sources for DUX4 Gene

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