DUX4 - double homeobox 4 Gene

Also Known as DUX4L

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 100288687

About DUX4

Cytogenetic location: 4q35.2 Genomic coordinates (GRCh38): 4:190,173,774-190,185,911 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 236 orthologues, 50 paralogues and is associated with 1 phenotype. Low expression observed in reference dataset.

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]

DUX4 Products (3)

mRNA	Protein	Name
NM_001293798.3	NP_001280727.1	double homeobox protein 4 isoform DUX4-fl
NM_001306068.3	NP_001292997.1	double homeobox protein 4 isoform DUX4-fl
NM_001363820.2	NP_001350749.1	double homeobox protein 4 isoform DUX4-s

DUX4 Protein Structure

Homeobox

0
100
200
300
400
424 a.a.

Protein Preferred Names	Protein Names
double homeobox protein 4	double homeobox protein 10

DUX4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DUX4	Q9UBX2	DES	Homo sapiens	P17661	PLA	26816005
Cross	DUX4	Q9UBX2	Des	Mus musculus	P31001	Y2H	26816005
Cross	DUX4	Q9UBX2	Des	Mus musculus	P31001	Anti Bait CoIP	26816005

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Facioscapulohumeral Muscular Dystrophy 1	Facioscapulohumeral Muscular Dystrophy Fshd Landouzy-Dejerine Muscular Dystrophy Muscular Dystrophy, Facioscapulohumeral FSHD1 Fshd1a Muscular Dystrophy, Facioscapulohumeral, Type 1a Facioscapulohumeral Muscular Dystrophy Type 1a Fsh Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy 1a Facioscapulohumeral Atrophy Facioscapulohumeral Myopathy Muscular Dystrophy, Facioscapulohumeral, Type 1 Facioscapulohumeral Muscular Dystrophy Type 1 Landouzy Dejerine Muscular Dystrophy Muscular Dystrophy, Landouzy-Dejerine Fshmd1a Facio-Scapulo-Humeral Dystrophy Facioscapulohumeral Type Progressive Muscular Dystrophy Facioscapuloperoneal Muscular Dystrophy Facioscapulohumeral Dystrophy Fsh Dystrophy Landouzy-Dejerine Dystrophy Landouzy-Dejerine Myopathy Fmd Facioscapulohumeral Muscular Dystrophy-1a Muscular Dystrophy Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral, Type 1 Landouzy-Dejerine Disease Landouzy-Déjerine Atrophy Facioscapulohumeral Muscle Dystrophy Fmd - [Facioscapulohumeral Muscular Dystrophy] Fsh - [Facioscapulohumeral Muscular Dystrophy] Fshd - [Facioscapulohumeral Muscular Dystrophy] Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy Landouzy-Déjérine Muscular Dystrophy
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Facioscapulohumeral Muscular Dystrophy 2, Digenic	Facioscapulohumeral Muscular Dystrophy 2 FSHD2 Fshd1b Facioscapulohumeral Muscular Dystrophy 1b Fshd2, Digenic Muscular Dystrophy, Facioscapulohumeral, Type 2 Muscular Dystrophy, Facioscapulohumeral, Type 1b Fascioscapulohumeral Muscular Dystrophy 2, Digenic Facioscapulohumeral Muscular Dystrophy Type 2 Digenic Facioscapulohumeral Muscular Dystrophy Digenic Fshd2 Facioscapulohumeral Muscular Dystrophy Type 1b Dystrophy, Muscular, Facioscapulohumeral, Type 2
Digenic Disease
Embryonal Rhabdomyosarcoma	Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma Embryonal Botryoid Rhabdomyosarcoma Erms Spindle Cell Rhabdomyosarcomas
Small Cell Osteogenic Sarcoma	Small Cell Osteosarcoma Round Cell Osteosarcoma Osteosarcoma Small Cell
Desmoplastic Small Round Cell Tumor	Dsrct Desmoplastic Small Round-Cell Tumor Desmoplastic Small Round-Cell Neoplasm
Retinal Telangiectasia
Conventional Osteosarcoma	Intracortical Osteosarcoma Conventional Central Osteosarcoma Intracortical Osteogenic Sarcoma Medullary Osteosarcoma
Chondrosarcoma, Extraskeletal Myxoid	Extraskeletal Myxoid Chondrosarcoma Emc Myxoid Extraosseous Chondrosarcoma
Extraosseous Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma
Mixed Phenotype Acute Leukemia, B/Myeloid	Doid:0081038
Bone Osteosarcoma	Osteosarcoma Of Bone Primary Osteosarcoma Of Bone
Coats Disease	Exudative Retinopathy Retinal Telangiectasis Coats' Disease Leber Miliary Aneurysm Coats' Syndrome Congenital Retinal Telangiectasia
Rhabdomyosarcoma
Muscle Tissue Disease
Muscular Disease
Synovium Cancer	Malignant Tumor Of Synovium Synovial Neoplasm
Spindle Cell Sarcoma	Sarcoma Sarcoma Spindle Cell Sarcoma, Spindle Cell Sarcoma - Category
Oculopharyngeal Muscular Dystrophy	OPMD Muscular Dystrophy, Oculopharyngeal Dystrophy, Oculopharyngeal Muscular Oculopharyngeal Dystrophy Progressive Muscular Dystrophy, Oculopharyngeal Type Muscular Dystrophy Oculopharyngeal Dystrophy, Muscular, Oculopharyngeal
Kidney Clear Cell Sarcoma	Clear Cell Sarcoma Of Kidney Childhood Kidney Clear Cell Sarcoma Renal Clear Cell Sarcoma Ccsk Clear Cell Sarcoma Of The Kidney
Rhabdomyosarcoma 2	Alveolar Rhabdomyosarcoma Rhabdomyosarcoma, Alveolar Rhabdomyosarcoma Alveolar RMS2 Rmsa Rhabdomyosarcoma 2, Alveolar Alveolar Childhood Rhabdomyosarcoma Arms Rhabdomyosarcoma, Type 2
Sarcoma, Synovial	Synovial Sarcoma Synovialosarcoma Synovial Cell Sarcoma Sarcoma Synovial
Ewing Sarcoma	Neuroepithelioma Ewing'S Tumor Primitive Neuroectodermal Tumor Ewings Sarcoma Ewing'S Sarcoma Peripheral Neuroepithelioma ES Ewings Sarcoma-Primitive Neuroectodermal Tumor Localized Peripheral Primitive Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Tumor Ewing Tumor Sarcoma, Ewing'S Ewing Family Of Tumors Extraosseous Ewing Tumor Askin Tumor Ewing'S Family Localized Tumor Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing Sarcoma Localized Ewing'S Sarcoma Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing'S Tumor Pnet Of Thoracopulmonary Region Tumor Of The Ewing Family Skeletal Ewing Sarcoma Osseous Ewing Sarcoma Ppnet Peripheral Pnet Extraskeletal Ewing Sarcoma Eoe Extraosseous Ewing Sarcoma Extraskeletal Ewing Tumor Esft Ewing Sarcoma Family Of Tumors Pne Pnet Pnet Of The Chest Wall Sarcoma, Ewing Neuroectodermal Tumors, Primitive, Peripheral Neuroectodermal Tumor, Primitive Disorder Of Eye Askin'S Tumor Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor Neuroepithelioma, Peripheral
Autosomal Recessive Limb-Girdle Muscular Dystrophy	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Myopathy	Muscular Diseases Myopathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-10402	Losmapimod	Inhibitor	99.94%	Yes
HY-177971	Braxlosiran		95.45%	Unkown
HY-174866	BT-O2C	Inhibitor	99.31%	Unkown
HY-RS04073	DUX4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-10402A	Losmapimod hydrochloride	Inhibitor	/	Unkown
HY-158305	SM51a		/	Unkown
HY-158306	SM45a	Activator	/	Unkown
HY-171277	Casein kinase 1δ-IN-27	Inhibitor	/	Unkown
HY-171290	Casein kinase 1δ-IN-31	Inhibitor	/	Unkown
HY-10402R	Losmapimod (Standard)	Inhibitor	/	Unkown
HY-RS27231	Dux4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DUX4	RGD	RGD:1311053