Homo sapiens Gene: DUX4L2 | |||||||||
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Summary | |||||||||
InnateDB Gene | IDBG-545784.3 | ||||||||
Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
Gene Symbol | DUX4L2 | ||||||||
Gene Name | double homeobox 4 like 2 | ||||||||
Synonyms | |||||||||
Species | Homo sapiens | ||||||||
Ensembl Gene | ENSG00000259128 | ||||||||
Encoded Proteins |
double homeobox 4 like 2
double homeobox 4 like 2
double homeobox 4 like 2
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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 4:190091005-190092564 | ||||||||
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 | P0CJ85 | ||||||||
TrEMBL | E0YLM6 E2JJS1 F5GZ66 G3V309 Q13060 Q14546 Q14547 | ||||||||
UniProt Splice Variant | |||||||||
Entrez Gene | |||||||||
UniGene | Hs.553518 Hs.714689 | ||||||||
RefSeq | NM_001127386 | ||||||||
HUGO | HGNC:37267 | ||||||||
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 HQ266762 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 ADN68617 | ||||||||
RNA Seq Atlas | |||||||||