InnateDB Gene
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IDBG-545782.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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DUX4
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Gene Name
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double homeobox 4
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Synonyms
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Species
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Homo sapiens
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Ensembl Gene
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ENSG00000258389
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Encoded Proteins
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Protein Structure
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Useful resources
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Stemformatics
EHFPI
ImmGen
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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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Type |
Protein coding
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Genomic Location
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Chromosome 4:190084412-190085922
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Strand
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Forward strand
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Band
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q35.2
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Transcripts
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
Accession |
GO Term |
GO:0000976
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transcription regulatory region sequence-specific DNA binding
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GO:0003677
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DNA binding
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GO:0003700
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sequence-specific DNA binding transcription factor activity
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Biological Process |
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Cellular Component |
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No orthologs found for this gene |
SwissProt
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TrEMBL
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E0YLM6
F5GZ66
Q13060
Q14546
Q14547
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UniProt Splice Variant
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Entrez Gene
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UniGene
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Hs.553518
Hs.714689
Hs.728749
Hs.728750
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RefSeq
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NM_033178
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HUGO
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HGNC:3082
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OMIM
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CCDS
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HPRD |
16189
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IMGT
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EMBL
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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
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GenPept
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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
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RNA Seq Atlas
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