DUX4L2

GENE INFORMATION

? »

Gene name

DUX4L2

Synonyms

Description

double homeobox 4 like 2 (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 microsatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). [provided by RefSeq, May 2013]

Chromosome

4 (Chromosome progress)

Cytoband

q35.2

Chromosome location (bp)

191011860 - 191013719

Ensembl

ENSG00000259128 (version 73.37)

Entrez gene

22947

UniProt

P0CJ85 (UniProt - Evidence at transcript level)

neXtProt

NX_P0CJ85

Antibodypedia

DUX4L2 antibodies
 

PROTEIN VIEW

? »
 
 
 
DUX4L2-001
 
DUX4L2-002
 
DUX4L2-201
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DUX4L2-001 ENSP00000451545
ENST00000553702
P0CJ85
Show all »
Show » Show » 424 44.9 No 0
DUX4L2-002 ENSP00000450967
ENST00000554376
G3V309
Show all »
Show » Show » 163 18.7 No 0
DUX4L2-201 ENSP00000389585
ENST00000440426
F5GZ66
Show all »
Show » Show » 485 51.1 Yes 0