Version 5.4
| Homo sapiens Gene: DUX4L6 | |||||||||
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| Summary | |||||||||
| InnateDB Gene | IDBG-545777.3 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | DUX4L6 | ||||||||
| Gene Name | double homeobox 4 like 6 | ||||||||
| Synonyms | |||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Gene | ENSG00000258697 | ||||||||
| Encoded Proteins |
double homeobox 4 like 6
double homeobox 4 like 6
double homeobox 4 like 6
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||
| Entrez Gene | |||||||||
| Summary |
The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The DUX gene family, including DUX2, resides within these 3.3-kb repeated elements (Beckers et al., 2001 [PubMed 11245978]). See DUX4 (MIM 606009).[supplied by OMIM, Mar 2008] This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that contains two homeoboxes; the repeat-array and ORF is conserved in other mammals. There was no evidence for transcription from standard cDNA libraries however RTPCR and in-vitro expression experiments indicate that the ORF is transcribed and the encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the microsatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jul 2008] |
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| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 4:190074525-190076035 | ||||||||
| Strand | Forward strand | ||||||||
| Band | q35.2 | ||||||||
| Transcripts |
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| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||
| No orthologs found for this gene | |||||||||
| Cross-References | |||||||||
| SwissProt | P0CJ89 | ||||||||
| TrEMBL | E0YLM6 F5GZ66 Q13060 Q14546 Q14547 | ||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | |||||||||
| UniGene | Hs.714687 Hs.723089 | ||||||||
| RefSeq | NM_001127388 | ||||||||
| HUGO | HGNC:37265 | ||||||||
| OMIM | |||||||||
| CCDS | |||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| EMBL | AC126281 HM101229 HM101230 HM101231 HM101232 HM101233 HM101234 HM101235 HM101236 HM101237 HM101238 HM101239 HM101240 HM101241 HM101242 HM101243 HM101244 HM101245 HM101246 HM101247 HM101248 HM101249 HM101250 HM101251 L32607 U18977 | ||||||||
| GenPept | AAA83546 AAA83547 AAA87408 ADK45340 ADK45341 ADK45342 ADK45343 ADK45344 ADK45392 ADK45393 ADK45394 ADK45395 ADK45396 ADK45397 ADK45398 ADK45399 ADK45400 ADK45401 ADK45402 ADK45403 ADK45404 ADK45405 ADK45406 ADK45407 ADK45408 ADK45409 | ||||||||
| RNA Seq Atlas | |||||||||