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Aliases for DUX4L4 Gene

Aliases for DUX4L4 Gene

  • Double Homeobox 4 Like 4 2 3

External Ids for DUX4L4 Gene

Summaries for DUX4L4 Gene

Entrez Gene Summary for DUX4L4 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 DUX4L4 Gene

DUX4L4 (Double Homeobox 4 Like 4) is a Pseudogene. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is DUX4L6.

UniProtKB/Swiss-Prot for DUX4L4 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 DUX4L4 Gene

Genomics for DUX4L4 Gene

Genomic Location for DUX4L4 Gene

Start:
190,081,021 bp from pter
End:
190,082,622 bp from pter
Size:
1,602 bases
Orientation:
Plus strand

Genomic View for DUX4L4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DUX4L4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DUX4L4 Gene

No data available for Regulatory Elements for DUX4L4 Gene

Proteins for DUX4L4 Gene

  • Protein details for DUX4L4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0CJ87-DU4L4_HUMAN
    Recommended name:
    Double homeobox protein 4-like protein 4
    Protein Accession:
    P0CJ87
    Secondary Accessions:

    Protein attributes for DUX4L4 Gene

    Size:
    422 amino acids
    Molecular mass:
    44826 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DUX4L4 Gene

Proteomics data for DUX4L4 Gene at MOPED

Post-translational modifications for DUX4L4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DUX4L4 Gene

No data available for DME Specific Peptides for DUX4L4 Gene

Domains for DUX4L4 Gene

Gene Families for DUX4L4 Gene

HGNC:
  • PRD :Homeoboxes / PRD class

Protein Domains for DUX4L4 Gene

Suggested Antigen Peptide Sequences for DUX4L4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0CJ87

UniProtKB/Swiss-Prot:

DU4L4_HUMAN
Domain:
  • Contains 2 homeobox DNA-binding domains.:
    • P0CJ87
genes like me logo Genes that share domains with DUX4L4: view

Function for DUX4L4 Gene

Molecular function for DUX4L4 Gene

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

Gene Ontology (GO) - Molecular Function for DUX4L4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
genes like me logo Genes that share ontologies with DUX4L4: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for DUX4L4 Gene

Localization for DUX4L4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DUX4L4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DUX4L4 Gene COMPARTMENTS Subcellular localization image for DUX4L4 gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for DUX4L4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
genes like me logo Genes that share ontologies with DUX4L4: view

Pathways for DUX4L4 Gene

SuperPathways for DUX4L4 Gene

No Data Available

Interacting Proteins for DUX4L4 Gene

Gene Ontology (GO) - Biological Process for DUX4L4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated --
GO:0006355 regulation of transcription, DNA-templated --
genes like me logo Genes that share ontologies with DUX4L4: view

No data available for Pathways by source for DUX4L4 Gene

Transcripts for DUX4L4 Gene

mRNA/cDNA for DUX4L4 Gene

(1) REFSEQ mRNAs :
(1) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for DUX4L4 Gene

No ASD Table

Relevant External Links for DUX4L4 Gene

GeneLoc Exon Structure for
DUX4L4
ECgene alternative splicing isoforms for
DUX4L4

Expression for DUX4L4 Gene

mRNA expression in normal human tissues for DUX4L4 Gene

SOURCE GeneReport for Unigene cluster for DUX4L4 Gene Hs.725918

genes like me logo Genes that share expressions with DUX4L4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein expression and mRNA Expression by UniProt/SwissProt for DUX4L4 Gene

Orthologs for DUX4L4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DUX4L4 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia -- 36
  • 23 (a)
OneToMany
mouse
(Mus musculus)
Mammalia AW822073 36
  • 11 (a)
ManyToMany
Duxbl1 36
  • 15 (a)
ManyToMany
Duxbl2 36
  • 15 (a)
ManyToMany
Duxbl3 36
  • 15 (a)
ManyToMany
Gm4981 36
  • 15 (a)
ManyToMany
Species with no ortholog for DUX4L4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for DUX4L4 Gene

ENSEMBL:
Gene Tree for DUX4L4 (if available)
TreeFam:
Gene Tree for DUX4L4 (if available)

Paralogs for DUX4L4 Gene

Selected SIMAP similar genes for DUX4L4 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DUX4L4: view

Variants for DUX4L4 Gene

Sequence variations from dbSNP and Humsavar for DUX4L4 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs62347472 -- 190,079,759(+) AAGGA(C/T)GGGCG upstream-variant-2KB
rs62347473 -- 190,079,819(+) AGGGA(A/G)AGACA upstream-variant-2KB
rs62347474 -- 190,082,103(+) CGGGG(A/C)AGCTC reference, missense
rs72499998 -- 190,082,107(+) GAAGC(C/T)CCACC synonymous-codon, reference
rs74220307 -- 190,081,210(-) GCATC(A/G/T)CTTTG missense, reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for DUX4L4 Gene

Variant ID Type Subtype PubMed ID
nsv10641 CNV Loss 18304495
nsv471487 CNV Duplication 19718026
esv23426 CNV Gain+Loss 19812545

Relevant External Links for DUX4L4 Gene

HapMap Linkage Disequilibrium report
DUX4L4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DUX4L4 Gene

Disorders for DUX4L4 Gene

(1) University of Copenhagen DISEASES for DUX4L4 Gene

genes like me logo Genes that share disorders with DUX4L4: view

No data available for UniProtKB/Swiss-Prot for DUX4L4 Gene

Publications for DUX4L4 Gene

  1. Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. (PMID: 7739628) Lee J. … Arahata K. (Muscle Nerve 1995) 3
  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
  3. 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
  4. The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. (PMID: 17588759) Kowaljow V. … Rosa A.L. (Neuromuscul. Disord. 2007) 3
  5. 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

Products for DUX4L4 Gene

  • QIAGEN qRT-PCR Assays for microRNAs that regulate DUX4L4
    • 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
    • Predesigned siRNA for gene silencing in human,mouse,rat for DUX4L4
    • Block miRNA regulation of DUX4L4 using miScript Target Protectors

    Sources for DUX4L4 Gene

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