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Aliases for DUX4L5 Gene

Aliases for DUX4L5 Gene

  • Double Homeobox 4 Like 5 2 3 5

External Ids for DUX4L5 Gene

Previous GeneCards Identifiers for DUX4L5 Gene

  • GC04P190999
  • GC04P191010
  • GC04P191017
  • GC04P191039

Summaries for DUX4L5 Gene

Entrez Gene Summary for DUX4L5 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 DUX4L5 Gene

DUX4L5 (Double Homeobox 4 Like 5) is a Pseudogene. Diseases associated with DUX4L5 include facioscapulohumeral muscular dystrophy 1 and muscle tissue disease. An important paralog of this gene is DUX4L2.

UniProtKB/Swiss-Prot for DUX4L5 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 DUX4L5 Gene

Genomics for DUX4L5 Gene

Genomic Location for DUX4L5 Gene

Chromosome:
4
Start:
190,077,818 bp from pter
End:
190,079,102 bp from pter
Size:
1,285 bases
Orientation:
Plus strand

Genomic View for DUX4L5 Gene

Genes around DUX4L5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DUX4L5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DUX4L5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DUX4L5 Gene

No data available for Regulatory Elements for DUX4L5 Gene

Proteins for DUX4L5 Gene

  • Protein details for DUX4L5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0CJ88-DU4L5_HUMAN
    Recommended name:
    Double homeobox protein 4-like protein 5
    Protein Accession:
    P0CJ88

    Protein attributes for DUX4L5 Gene

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

neXtProt entry for DUX4L5 Gene

Proteomics data for DUX4L5 Gene at MOPED

Post-translational modifications for DUX4L5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DUX4L5 Gene

Domains & Families for DUX4L5 Gene

Gene Families for DUX4L5 Gene

Protein Domains for DUX4L5 Gene

Suggested Antigen Peptide Sequences for DUX4L5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0CJ88

UniProtKB/Swiss-Prot:

DU4L5_HUMAN :
  • Contains 2 homeobox DNA-binding domains.
Domain:
  • Contains 2 homeobox DNA-binding domains.
genes like me logo Genes that share domains with DUX4L5: view

Function for DUX4L5 Gene

Molecular function for DUX4L5 Gene

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

Phenotypes for DUX4L5 Gene

GenomeRNAi human phenotypes for DUX4L5:
genes like me logo Genes that share phenotypes with DUX4L5: view

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DUX4L5 Gene

Localization for DUX4L5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DUX4L5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DUX4L5 Gene COMPARTMENTS Subcellular localization image for DUX4L5 gene
Compartment Confidence
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for DUX4L5 Gene

Pathways & Interactions for DUX4L5 Gene

SuperPathways for DUX4L5 Gene

No Data Available

Interacting Proteins for DUX4L5 Gene

Gene Ontology (GO) - Biological Process for DUX4L5 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for DUX4L5 Gene

Drugs & Compounds for DUX4L5 Gene

No Compound Related Data Available

Transcripts for DUX4L5 Gene

mRNA/cDNA for DUX4L5 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for DUX4L5 Gene

No ASD Table

Relevant External Links for DUX4L5 Gene

GeneLoc Exon Structure for
DUX4L5
ECgene alternative splicing isoforms for
DUX4L5

Expression for DUX4L5 Gene

mRNA expression in normal human tissues for DUX4L5 Gene

SOURCE GeneReport for Unigene cluster for DUX4L5 Gene Hs.714687

genes like me logo Genes that share expression patterns with DUX4L5: view

Primer Products

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 DUX4L5 Gene

Orthologs for DUX4L5 Gene

Evolution for DUX4L5 Gene

ENSEMBL:
Gene Tree for DUX4L5 (if available)
TreeFam:
Gene Tree for DUX4L5 (if available)

No data available for Orthologs for DUX4L5 Gene

Paralogs for DUX4L5 Gene

Paralogs for DUX4L5 Gene

(14) SIMAP similar genes for DUX4L5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DUX4L5: view

Variants for DUX4L5 Gene

Structural Variations from Database of Genomic Variants (DGV) for DUX4L5 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 DUX4L5 Gene

HapMap Linkage Disequilibrium report
DUX4L5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar and Variation tolerance for DUX4L5 Gene

Disorders for DUX4L5 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DUX4L5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
facioscapulohumeral muscular dystrophy 1
  • facioscapulohumeral muscular dystrophy
muscle tissue disease
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with DUX4L5: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for DUX4L5 Gene

Publications for DUX4L5 Gene

  1. 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) 3 67
  2. 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) 3
  3. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. (PMID: 17588759) Kowaljow V. … Rosa A.L. (Neuromuscul. Disord. 2007) 3
  4. Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements. (PMID: 11245978) Beckers M.-C. … Belayew A. (Gene 2001) 3
  5. 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

Products for DUX4L5 Gene

Sources for DUX4L5 Gene

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