DUX4

GENE INFORMATION

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Gene name

DUX4

Synonyms

Description

Double homeobox 4 (HGNC Symbol)

Entrez gene summary

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 encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. There is no evidence for transcription of this gene from standard cDNA libraries, however, RT-PCR and in vitro expression experiments indicate that the ORF is transcribed. 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 macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, Jun 2014]

Chromosome

4

Cytoband

q35.2

Chromosome location (bp)

190173774 - 190185942

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000260596 (version 78.38)

Entrez gene

100288687

UniProt

Q9UBX2 (UniProt - Evidence at protein level)

neXtProt

NX_Q9UBX2

Antibodypedia

DUX4 antibodies
 

PROTEIN VIEW

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DUX4-001
 
DUX4-002
 
DUX4-003
 
DUX4-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DUX4-001 ENSP00000458065
ENST00000565211
Q9UBX2
Show all »
Show » Show » 424 44.9 No 0
DUX4-002 ENSP00000456539
ENST00000569241
Q9UBX2
Show all »
Show » Show » 424 44.9 No 0
DUX4-003 ENSP00000455112
ENST00000570263
E2JJS1
Show all »
Show » Show » 160 18.4 No 0
DUX4-201 ENSP00000483555
ENST00000616166
Q9UBX2
Show all »
Show » Show » 424 44.9 No 0