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Aliases for DUX4L2 Gene

Aliases for DUX4L2 Gene

  • Double Homeobox 4 Like 2 2 3
  • Double Homeobox Protein 4-Like Protein 2 3
  • DUX4 3

External Ids for DUX4L2 Gene

Previous GeneCards Identifiers for DUX4L2 Gene

  • GC04P191012
  • GC04P191014
  • GC04P191021
  • GC04P191026
  • GC04P191031
  • GC04P191036
  • GC04P191044

Summaries for DUX4L2 Gene

Entrez Gene Summary for DUX4L2 Gene

  • 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]

GeneCards Summary for DUX4L2 Gene

DUX4L2 (Double Homeobox 4 Like 2) is a Pseudogene. Diseases associated with DUX4L2 include facioscapulohumeral muscular dystrophy 1. An important paralog of this gene is DUX4.

UniProtKB/Swiss-Prot for DUX4L2 Gene

  • May be involved in transcriptional regulation.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DUX4L2 Gene

Genomics for DUX4L2 Gene

Genomic Location for DUX4L2 Gene

190,091,005 bp from pter
190,092,289 bp from pter
1,285 bases
Plus strand

Genomic View for DUX4L2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for DUX4L2 Gene

No data available for Regulatory Elements for DUX4L2 Gene

Proteins for DUX4L2 Gene

  • Protein details for DUX4L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Double homeobox protein 4-like protein 2
    Protein Accession:

    Protein attributes for DUX4L2 Gene

    424 amino acids
    Molecular mass:
    44926 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DUX4L2 Gene

Proteomics data for DUX4L2 Gene at MOPED

Post-translational modifications for DUX4L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DUX4L2 Gene

Domains & Families for DUX4L2 Gene

Gene Families for DUX4L2 Gene

Protein Domains for DUX4L2 Gene

Suggested Antigen Peptide Sequences for DUX4L2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 2 homeobox DNA-binding domains.
  • Contains 2 homeobox DNA-binding domains.
genes like me logo Genes that share domains with DUX4L2: view

Function for DUX4L2 Gene

Molecular function for DUX4L2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in transcriptional regulation.

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DUX4L2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DUX4L2 Gene

Localization for DUX4L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DUX4L2 Gene

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for DUX4L2 Gene

Pathways & Interactions for DUX4L2 Gene

SuperPathways for DUX4L2 Gene

No Data Available

Interacting Proteins for DUX4L2 Gene

Gene Ontology (GO) - Biological Process for DUX4L2 Gene


No data available for Pathways by source and SIGNOR curated interactions for DUX4L2 Gene

Drugs & Compounds for DUX4L2 Gene

No Compound Related Data Available

Transcripts for DUX4L2 Gene

mRNA/cDNA for DUX4L2 Gene

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DUX4L2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DUX4L2 Gene

No ASD Table

Relevant External Links for DUX4L2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DUX4L2 Gene

mRNA expression in normal human tissues for DUX4L2 Gene

SOURCE GeneReport for Unigene cluster for DUX4L2 Gene Hs.714689

genes like me logo Genes that share expression patterns with DUX4L2: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

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 , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for DUX4L2 Gene

Orthologs for DUX4L2 Gene

Evolution for DUX4L2 Gene

Gene Tree for DUX4L2 (if available)
Gene Tree for DUX4L2 (if available)

No data available for Orthologs for DUX4L2 Gene

Paralogs for DUX4L2 Gene

Paralogs for DUX4L2 Gene

(17) SIMAP similar genes for DUX4L2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DUX4L2: view

Variants for DUX4L2 Gene

Structural Variations from Database of Genomic Variants (DGV) for DUX4L2 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 DUX4L2 Gene

HapMap Linkage Disequilibrium report

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar and Variation tolerance for DUX4L2 Gene

Disorders for DUX4L2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DUX4L2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
facioscapulohumeral muscular dystrophy 1
  • facioscapulohumeral muscular dystrophy
- elite association
genes like me logo Genes that share disorders with DUX4L2: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for DUX4L2 Gene

Publications for DUX4L2 Gene

  1. RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy. (PMID: 19359275) Snider L. … Tapscott S.J. (Hum. Mol. Genet. 2009) 67
  2. Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. (PMID: 17668377) Clapp J. … Hewitt J.E. (Am. J. Hum. Genet. 2007) 67
  3. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. (PMID: 17588759) Kowaljow V. … Rosa A.L. (Neuromuscul. Disord. 2007) 67
  4. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. (PMID: 17984056) Dixit M. … Chen Y.W. (Proc. Natl. Acad. Sci. U.S.A. 2007) 67
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 67

Products for DUX4L2 Gene

Sources for DUX4L2 Gene

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