Fields »

GENE AND PROTEIN SUMMARY

? »

Gene name

DUX4L2

Description

double homeobox 4 like 2

Protein class

Mapped to UniProt SWISS-PROT, Mutated genes in cancer, Potentially secreted proteins

Protein evidence

None

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 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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

3 in total
0 with predicted TM region
1 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

? »

Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

? »

Pending normal tissue analysis

CANCER TISSUE SUMMARY

? »

Pending cancer tissue analysis

CELL LINE SUMMARY

? »

RNA evidence

Low
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Not detected

-

-

A-549 Lung Low

-

-

CACO-2 Colon Not detected

-

-

HEK 293 Embryonal kidney Not detected

-

-

HeLa Cervix Not detected

-

-

Hep-G2 Liver Low

-

-

MCF-7 Pleural effusion Not detected

-

-

PC-3 Bone marrow Not detected

-

-

RT-4 Urinary bladder Not detected

-

-

U-2 OS Bone Low

-

-

U-251 MG Brain Not detected

-

-

ANTIBODY SUMMARY

? »

Pending antibodies