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Aliases for DUX4L7 Gene

Aliases for DUX4L7 Gene

  • Double Homeobox 4 Like 7 2 3

External Ids for DUX4L7 Gene

Summaries for DUX4L7 Gene

Entrez Gene Summary for DUX4L7 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 DUX4L7 Gene

DUX4L7 (Double Homeobox 4 Like 7) 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 DUX4L2.

UniProtKB/Swiss-Prot for DUX4L7 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 DUX4L7 Gene

Genomics for DUX4L7 Gene

Genomic Location for DUX4L7 Gene

Start:
190,071,135 bp from pter
End:
190,072,742 bp from pter
Size:
1,608 bases
Orientation:
Plus strand

Genomic View for DUX4L7 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DUX4L7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DUX4L7 Gene

No data available for Regulatory Elements for DUX4L7 Gene

Proteins for DUX4L7 Gene

  • Protein details for DUX4L7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0CJ90-DU4L7_HUMAN
    Recommended name:
    Double homeobox protein 4-like protein 7
    Protein Accession:
    P0CJ90
    Secondary Accessions:

    Protein attributes for DUX4L7 Gene

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

neXtProt entry for DUX4L7 Gene

Proteomics data for DUX4L7 Gene at MOPED

Post-translational modifications for DUX4L7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DUX4L7 Gene

No data available for DME Specific Peptides for DUX4L7 Gene

Domains for DUX4L7 Gene

Gene Families for DUX4L7 Gene

HGNC:
  • PRD :Homeoboxes / PRD class

Protein Domains for DUX4L7 Gene

UniProtKB/Swiss-Prot:

DU4L7_HUMAN
Domain:
  • Contains 2 homeobox DNA-binding domains.:
    • P0CJ90
genes like me logo Genes that share domains with DUX4L7: view

Function for DUX4L7 Gene

Molecular function for DUX4L7 Gene

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

Gene Ontology (GO) - Molecular Function for DUX4L7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
genes like me logo Genes that share ontologies with DUX4L7: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for DUX4L7 Gene

Localization for DUX4L7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DUX4L7 Gene

Gene Ontology (GO) - Cellular Components for DUX4L7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
genes like me logo Genes that share ontologies with DUX4L7: view

Pathways for DUX4L7 Gene

SuperPathways for DUX4L7 Gene

No Data Available

Interacting Proteins for DUX4L7 Gene

Gene Ontology (GO) - Biological Process for DUX4L7 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 DUX4L7: view

No data available for Pathways by source for DUX4L7 Gene

Transcripts for DUX4L7 Gene

mRNA/cDNA for DUX4L7 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for DUX4L7 Gene

No ASD Table

Relevant External Links for DUX4L7 Gene

GeneLoc Exon Structure for
DUX4L7
ECgene alternative splicing isoforms for
DUX4L7

Expression for DUX4L7 Gene

mRNA expression in normal human tissues for DUX4L7 Gene

SOURCE GeneReport for Unigene cluster for DUX4L7 Gene Hs.714688

genes like me logo Genes that share expressions with DUX4L7: view

Orthologs for DUX4L7 Gene

Evolution for DUX4L7 Gene

ENSEMBL:
Gene Tree for DUX4L7 (if available)
TreeFam:
Gene Tree for DUX4L7 (if available)

No data available for Orthologs for DUX4L7 Gene

Paralogs for DUX4L7 Gene

Paralogs for DUX4L7 Gene

Selected SIMAP similar genes for DUX4L7 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DUX4L7: view

Variants for DUX4L7 Gene

Sequence variations from dbSNP and Humsavar for DUX4L7 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs74211767 -- 190,071,115(-) TGCCG(C/G)GACAG upstream-variant-2KB
rs200680537 -- 190,070,277(+) GACAG(A/C)CCCGG upstream-variant-2KB
rs371361094 -- 190,071,226(+) GGCTC(A/C)CCGCG utr-variant-5-prime
rs376803527 -- 190,071,255(+) TCGGA(C/G)AGCAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for DUX4L7 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

Relevant External Links for DUX4L7 Gene

HapMap Linkage Disequilibrium report
DUX4L7

Disorders for DUX4L7 Gene

No disorders were found for DUX4L7 Gene.

No data available for UniProtKB/Swiss-Prot for DUX4L7 Gene

Publications for DUX4L7 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 DUX4L7 Gene

  • QIAGEN qRT-PCR Assays for microRNAs that regulate DUX4L7
    • 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 DUX4L7
    • Block miRNA regulation of DUX4L7 using miScript Target Protectors

    Sources for DUX4L7 Gene

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