DUX4 (double homeobox 4)

2015-02-01  

Identity

HGNC
DUX4
LOCATION
4q35.2
LOCUSID
100288687
ALIAS
DUX4L
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 100288687
MIM: 606009
HGNC: 50800
Ensembl: ENSG00000260596

Variants:

dbSNP: 100288687
ClinVar: 100288687
TCGA: ENSG00000260596
COSMIC: DUX4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000260596ENST00000565211Q9UBX2
ENSG00000260596ENST00000565211C3U3A0
ENSG00000260596ENST00000569241Q9UBX2
ENSG00000260596ENST00000569241C3U3A0
ENSG00000260596ENST00000570263Q9UBX2
ENSG00000260596ENST00000616166Q9UBX2
ENSG00000260596ENST00000616166C3U3A0

Expression (GTEx)

0
1
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
384512212024DUX4-induced HSATII transcription causes KDM2A/B-PRC1 nuclear foci and impairs DNA damage response.0
385423012024The DUX4-HIF1α Axis in Murine and Human Muscle Cells: A Link More Complex Than Expected.0
388099762024DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis.0
384512212024DUX4-induced HSATII transcription causes KDM2A/B-PRC1 nuclear foci and impairs DNA damage response.0
385423012024The DUX4-HIF1α Axis in Murine and Human Muscle Cells: A Link More Complex Than Expected.0
388099762024DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis.0
367288042023Human DUX4 and porcine DUXC activate similar early embryonic programs in pig muscle cells: implications for preclinical models of FSHD.3
368004232023DUX4 double whammy: The transcription factor that causes a rare muscular dystrophy also kills the precursors of the human nose.4
370215502023WDR5 is required for DUX4 expression and its pathological effects in FSHD muscular dystrophy.1
370927262023Human DUX4 and mouse Dux interact with STAT1 and broadly inhibit interferon-stimulated gene induction.6
371861192023Post-Translational Modifications of the DUX4 Protein Impact Toxic Function in FSHD Cell Models.1
372984532023Influence of DUX4 Expression in Facioscapulohumeral Muscular Dystrophy and Possible Treatments.3
373149312023Compromised nonsense-mediated RNA decay results in truncated RNA-binding protein production upon DUX4 expression.6
376911472023DUX4 expression in cancer induces a metastable early embryonic totipotent program.0
377031752023MATR3 is an endogenous inhibitor of DUX4 in FSHD muscular dystrophy.3

Citation

Dessen P

DUX4 (double homeobox 4)

Atlas Genet Cytogenet Oncol Haematol. 2015-02-01

Online version: http://atlasgeneticsoncology.org/gene/54984/gene-explorer/hgnc