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Aliases for DUX4 Gene

Aliases for DUX4 Gene

  • Double Homeobox 4 2 3 5
  • 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. 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). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

CIViC summary for DUX4 Gene

GeneCards Summary for DUX4 Gene

DUX4 (Double Homeobox 4) is a Protein Coding gene. Diseases associated with DUX4 include Facioscapulohumeral Muscular Dystrophy 1 and Muscle Tissue Disease. GO annotations related to this gene include transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is DUXB.

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

Regulatory Elements for DUX4 Gene

Enhancers for DUX4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G190111 0.5 Ensembl ENCODE 0.2 -62.2 -62195 0.7 DUX4L2 DUX4
GH04G190122 0.2 ENCODE 0.2 -50.7 -50659 0.2 DUX4L2 DUX4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DUX4 on UCSC Golden Path with GeneCards custom track

Genomic Location for DUX4 Gene

190,173,669 bp from pter
190,185,942 bp from pter
12,274 bases
Plus strand

Genomic View for DUX4 Gene

Genes around DUX4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DUX4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DUX4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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:

    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

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 & Families for DUX4 Gene

Suggested Antigen Peptide Sequences for DUX4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Both homeobox domains confer nuclear targeting.
  • Belongs to the paired homeobox family.
  • Both homeobox domains confer nuclear targeting.
  • 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 IEA --
GO:0005515 protein binding IPI 26816005
genes like me logo Genes that share ontologies with DUX4: view

Phenotypes for DUX4 Gene

GenomeRNAi human phenotypes for DUX4:
genes like me logo Genes that share phenotypes with DUX4: view

Human Phenotype Ontology for DUX4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for DUX4

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets 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).

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DUX4 gene
Compartment Confidence
nucleus 2

Gene Ontology (GO) - Cellular Components for DUX4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 17984056
GO:0005654 nucleoplasm IDA 17588759
GO:0005730 nucleolus IDA --
GO:0005829 cytosol IDA --
GO:0031965 nuclear membrane IDA 17588759
genes like me logo Genes that share ontologies with DUX4: view

Pathways & Interactions 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:0006355 regulation of 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
genes like me logo Genes that share ontologies with DUX4: view

No data available for Pathways by source and SIGNOR curated interactions for DUX4 Gene

Drugs & Compounds for DUX4 Gene

No Compound Related Data Available

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for DUX4 Gene

NURSA nuclear receptor signaling pathways regulating expression of 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.

Evidence on tissue expression from TISSUES for DUX4 Gene

  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DUX4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • mouth
  • tongue
  • clavicle
  • lung
  • scapula
  • abdominal wall
  • pelvis
  • arm
  • humerus
  • lower limb
  • shin
  • shoulder
  • upper limb
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with DUX4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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

Paralogs for DUX4 Gene

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

Variants for DUX4 Gene

Sequence variations from dbSNP and Humsavar for DUX4 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs10437559 -- 190,179,679(+) agttg(G/T)atcac intron-variant
rs11507935 -- 190,177,923(+) CAGTG(C/T)GGAGA intron-variant
rs2975228 -- 190,175,869(+) gtgat(C/G)agtgc downstream-variant-500B
rs2975229 -- 190,175,918(+) aattg(A/G)tttac downstream-variant-500B
rs33956251 -- 190,179,797(+) GCAGA(A/G)CCTAC intron-variant

Relevant External Links for DUX4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for DUX4 Gene

Disorders for DUX4 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DUX4 Gene - From: GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
facioscapulohumeral muscular dystrophy 1
  • facioscapulohumeral muscular dystrophy
muscle tissue disease
- elite association - COSMIC cancer census association via MalaCards
Search DUX4 in MalaCards View complete list of genes associated with diseases


  • 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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DUX4: view

No data available for Genatlas for DUX4 Gene

Publications for DUX4 Gene

  1. 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 64
  2. A unifying genetic model for facioscapulohumeral muscular dystrophy. (PMID: 20724583) Lemmers R.J. … van der Maarel S.M. (Science 2010) 2 3 64
  3. Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. (PMID: 21060811) Snider L. … Miller D.G. (PLoS Genet. 2010) 3 4 64
  4. 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 64
  5. Intracellular trafficking and dynamics of double homeodomain proteins. (PMID: 15709750) Oestlund C. … Worman H.J. (Biochemistry 2005) 3 4 64

Products for DUX4 Gene

Sources for DUX4 Gene

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