DUX4L4

GENE INFORMATION

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Gene name

DUX4L4

Synonyms

Description

Double homeobox 4 like 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 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)

191001979 - 191003777

Protein evidence

No evidence (all genes)

Ensembl

ENSG00000258834 (version 75.37)

Entrez gene

441056

UniProt

P0CJ87 (UniProt - Inferred from homology)

neXtProt

NX_P0CJ87

Antibodypedia

DUX4L4 antibodies
 

PROTEIN VIEW

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DUX4L4-001
 
DUX4L4-002
 
DUX4L4-201
 
 
 
 
 

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)

DUX4L4-001 ENSP00000451270
ENST00000554637
P0CJ87
Show all »
Show » Show » 422 44.8 No 0
DUX4L4-002 ENSP00000474688
ENST00000604656
E2JJS1
Show all »
Show » 160 18.4 No 0
DUX4L4-201 ENSP00000438513
ENST00000538692
E9PEK5
Show all »
Show » Show » 483 51 Yes 0