| HGNC Family | Homeoboxes |
| Name | double homeobox 4 like 5 |
| Description | 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] |
| Proteins | DU4L5_HUMAN |
| NCBI Gene ID | 653545 |
| API | |
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| Predicted Functions |
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| Expression in Tissues and Cell Lines |
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DUX4L5 has 186 functional associations with biological entities spanning 5 categories (molecular profile, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA) extracted from 11 datasets.
Click the + buttons to view associations for DUX4L5 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of DUX4L5 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of DUX4L5 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of DUX4L5 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| CTD Gene-Disease Associations | diseases associated with DUX4L5 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of DUX4L5 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of DUX4L5 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving DUX4L5 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing DUX4L5 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by DUX4L5 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of DUX4L5 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of DUX4L5 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
