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Aliases for DUX4L8 Gene

Aliases for DUX4L8 Gene

  • Double Homeobox 4 Like 8 2 3
  • Double Homeobox 4 Like 8 (Pseudogene) 2 3
  • Double Homeobox 2 2 3
  • DUX2 3 6
  • Putative Double Homeobox Protein 2 3
  • Double Homeobox, 2 2

External Ids for DUX4L8 Gene

Previous Symbols for DUX4L8 Gene

  • DUX2

Summaries for DUX4L8 Gene

Entrez Gene Summary for DUX4L8 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 DUX4L8 Gene

DUX4L8 (Double Homeobox 4 Like 8) is a Pseudogene. An important paralog of this gene is DUX4L2.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DUX4L8 Gene

Genomics for DUX4L8 Gene

Genomic Location for DUX4L8 Gene

Start:
190,067,838 bp from pter
End:
190,069,217 bp from pter
Size:
1,380 bases
Orientation:
Plus strand

Genomic View for DUX4L8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DUX4L8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DUX4L8 Gene

No data available for Regulatory Elements for DUX4L8 Gene

Proteins for DUX4L8 Gene

  • Protein details for DUX4L8 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    A0A096LP84-A0A096LP84
    Recommended name:
    Protein DUX4L8
    Protein Accession:
    A0A096LP84
    Secondary Accessions:

    Protein attributes for DUX4L8 Gene

    Size:
    424 amino acids
    Molecular mass:
    44988 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DUX4L8 Gene

Proteomics data for DUX4L8 Gene at MOPED

Post-translational modifications for DUX4L8 Gene

No Post-translational modifications

Other Protein References for DUX4L8 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for DUX4L8 Gene

Domains for DUX4L8 Gene

Gene Families for DUX4L8 Gene

HGNC:
  • PRD :Homeoboxes / PRD class

Protein Domains for DUX4L8 Gene

genes like me logo Genes that share domains with DUX4L8: view

No data available for UniProtKB/Swiss-Prot for DUX4L8 Gene

Function for DUX4L8 Gene

Gene Ontology (GO) - Molecular Function for DUX4L8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
genes like me logo Genes that share ontologies with DUX4L8: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for DUX4L8 Gene

Localization for DUX4L8 Gene

No data available for Gene Ontology (GO) - Cellular Components for DUX4L8 Gene

Pathways for DUX4L8 Gene

SuperPathways for DUX4L8 Gene

No Data Available

Interacting Proteins for DUX4L8 Gene

Gene Ontology (GO) - Biological Process for DUX4L8 Gene

None

No data available for Pathways by source for DUX4L8 Gene

Transcripts for DUX4L8 Gene

mRNA/cDNA for DUX4L8 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for DUX4L8 Gene

No ASD Table

Relevant External Links for DUX4L8 Gene

GeneLoc Exon Structure for
DUX4L8
ECgene alternative splicing isoforms for
DUX4L8

Expression for DUX4L8 Gene

mRNA expression in normal human tissues for DUX4L8 Gene

Integrated Proteomics: protein expression from for DUX4L8 Gene

genes like me logo Genes that share expressions with DUX4L8: view

Orthologs for DUX4L8 Gene

Evolution for DUX4L8 Gene

ENSEMBL:
Gene Tree for DUX4L8 (if available)
TreeFam:
Gene Tree for DUX4L8 (if available)

No data available for Orthologs for DUX4L8 Gene

Paralogs for DUX4L8 Gene

genes like me logo Genes that share paralogs with DUX4L8: view

Variants for DUX4L8 Gene

Sequence variations from dbSNP and Humsavar for DUX4L8 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs74498055 -- 190,068,551(+) GGGGG(A/C)TTTCG missense, reference
rs77415479 -- 190,068,562(+) TGAGC(C/T)AGGCA reference, stop-gained
rs79698427 -- 190,068,535(+) CTGGG(G/T)CTCTC reference, missense
rs112087042 -- 190,068,511(+) CCGCA(C/T)CCCAC reference, missense
rs112885255 -- 190,068,498(+) GGAAC(A/G)GGGCT synonymous-codon, reference

Relevant External Links for DUX4L8 Gene

HapMap Linkage Disequilibrium report
DUX4L8

No data available for Structural Variations from Database of Genomic Variants (DGV) for DUX4L8 Gene

Disorders for DUX4L8 Gene

No disorders were found for DUX4L8 Gene.

No data available for UniProtKB/Swiss-Prot for DUX4L8 Gene

Publications for DUX4L8 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. Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3-kb dispersed repeated elements. (PMID: 9736770) Ding H. … Belayew A. (Hum. Mol. Genet. 1998) 3
  3. 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. 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. 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 DUX4L8 Gene

  • QIAGEN qRT-PCR Assays for microRNAs that regulate DUX4L8
    • 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 DUX4L8
    • Block miRNA regulation of DUX4L8 using miScript Target Protectors

    Sources for DUX4L8 Gene

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