DUX4L3

GENE INFORMATION

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Gene name

DUX4L3

Synonyms

Description

Double homeobox 4 like 3 (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 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]

Chromosome

4

Cytoband

q35.2

Chromosome location (bp)

191008560 - 191010370

Protein evidence

No evidence (all genes)

Ensembl

ENSG00000259034 (version 75.37)

Entrez gene

653548

UniProt

P0CJ86 (UniProt - Inferred from homology)

neXtProt

NX_P0CJ86

Antibodypedia

DUX4L3 antibodies
 

PROTEIN VIEW

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DUX4L3-001
 
DUX4L3-002
 
DUX4L3-201
 
 
 
 
 

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)

DUX4L3-001 ENSP00000451859
ENST00000557656
P0CJ86
Show all »
Show » Show » 424 44.9 No 0
DUX4L3-002 ENSP00000474418
ENST00000605191
G3V309
Show all »
Show » Show » 163 18.7 No 0
DUX4L3-201 ENSP00000451798
ENST00000554690
F5GZ66
Show all »
Show » Show » 485 51.1 Yes 0