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DUX4

GENERAL INFORMATION

Gene name

 DUX4

Gene description

 Double homeobox 4

Protein class

 Disease related genes
Potential drug targets
Predicted intracellular proteins
Transcription factors
Transporters

Predicted localization

 Intracellular

Number of transcripts

 4
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (testis)

Protein evidence

 Evidence at protein level

DATA RELIABILITY

Reliability score

 Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (testis)

GENE INFORMATION

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. 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). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Chromosome

 4

Cytoband

 q35.2

Chromosome location (bp)

 190173774 - 190185942

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000260596 (version 83.38)

Entrez gene

 100288687

UniProt

 Q9UBX2 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9UBX2

Antibodypedia

 DUX4 antibodies

PROTEIN BROWSER
DUX4-001
DUX4-002
DUX4-003
DUX4-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DUX4-001
ENSP00000458065
ENST00000565211
Q9UBX2 [Direct mapping]
Double homeobox protein 4
C3U3A0 [Target identity:100%; Query identity:100%]
DUX4; Double homeodomain protein DUX4-fl
Show all
Transporters
   Transporter channels and pores
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Potential drug targets
Show all
GO:0000976 [transcription regulatory region sequence-specific DNA binding]
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0006915 [apoptotic process]
GO:0008285 [negative regulation of cell proliferation]
GO:0031965 [nuclear membrane]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0070317 [negative regulation of G0 to G1 transition]
Show all
 424 aa
44.9 kDa 		No 0
DUX4-002
ENSP00000456539
ENST00000569241
Q9UBX2 [Direct mapping]
Double homeobox protein 4
C3U3A0 [Target identity:100%; Query identity:100%]
DUX4; Double homeodomain protein DUX4-fl
Show all
Transporters
   Transporter channels and pores
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Potential drug targets
Show all
GO:0000976 [transcription regulatory region sequence-specific DNA binding]
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0006915 [apoptotic process]
GO:0008285 [negative regulation of cell proliferation]
GO:0031965 [nuclear membrane]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0070317 [negative regulation of G0 to G1 transition]
Show all
 424 aa
44.9 kDa 		No 0
DUX4-003
ENSP00000455112
ENST00000570263
E2JJS1 [Direct mapping]
Double homeobox protein 4; Double homeodomain protein DUX4-s
Show all
Predicted intracellular proteins
Show all
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
Show all
 160 aa
18.4 kDa 		No 0
DUX4-201
ENSP00000483555
ENST00000616166
Q9UBX2 [Direct mapping]
Double homeobox protein 4
C3U3A0 [Target identity:100%; Query identity:100%]
DUX4; Double homeodomain protein DUX4-fl
Show all
Transporters
   Transporter channels and pores
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Potential drug targets
Show all
GO:0000976 [transcription regulatory region sequence-specific DNA binding]
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0006351 [transcription, DNA-templated]
GO:0006915 [apoptotic process]
GO:0008285 [negative regulation of cell proliferation]
GO:0031965 [nuclear membrane]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0070317 [negative regulation of G0 to G1 transition]
Show all
 424 aa
44.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.