Aliases for DUX4 Gene
Aliases for DUX4 Gene
External Ids for DUX4 Gene
- HGNC: 50800
- Entrez Gene: 100288687
- Ensembl: ENSG00000260596
- OMIM: 606009
- UniProtKB: Q9UBX2
Previous GeneCards Identifiers for DUX4 Gene
- GC04P192017
- GC10P134609
- GC04P191585
- GC04P191697
- GC04P191683
- GC04P191376
- GC04P191232
- GC04P191240
- GC04P191251
- GC04P191254
- GC04P191257
- GC04P191260
- GC04P191005
Summaries for DUX4 Gene
-
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]
GeneCards Summary for DUX4 Gene
DUX4 (Double Homeobox 4) is a Protein Coding gene. Diseases associated with DUX4 include Facioscapulohumeral Muscular Dystrophy 1 and Muscular Dystrophy. Gene Ontology (GO) annotations related to this gene include transcription regulatory region sequence-specific DNA binding. An important paralog of this gene is DUXB.
UniProtKB/Swiss-Prot for DUX4 Gene
-
Involved in transcriptional regulation. May regulate microRNA (miRNA) expression.
No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DUX4 Gene
Genomics for DUX4 Gene
GeneHancer (GH) Regulatory Elements for DUX4 Gene
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH04I190111 | Enhancer | 0.4 | Ensembl ENCODE | 0.2 | -62.2 | -62194 | 0.7 | DUX4L2 DUX4 | ||
GH04I190122 | Enhancer | 0.2 | ENCODE | 0.2 | -50.7 | -50658 | 0.2 | DUX4L2 DUX4 |
Regulatory Element Products
Genomic Locations for DUX4 Gene
- chr4:190,173,669-190,185,942
- (GRCh38/hg38)
- Size:
- 12,274 bases
- Orientation:
- Plus strand
- chr4:191,005,267-191,007,077
- (GRCh37/hg19)
Genomic View for DUX4 Gene
- Cytogenetic band:
-
- 4q35.2 by Ensembl
- 4q35.2 by Entrez Gene
- 4q35.2 by HGNC


RefSeq DNA sequence for DUX4 Gene
Proteins for DUX4 Gene
-
Protein details for DUX4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UBX2-DUX4_HUMAN
- Recommended name:
- Double homeobox protein 4
- Protein Accession:
- Q9UBX2
Protein attributes for DUX4 Gene
- Size:
- 424 amino acids
- Molecular mass:
- 44940 Da
- Quaternary structure:
-
- May exist as a monomer or a dimer.
- Miscellaneous:
-
- DUX genes are present in 3.3-kilobase elements, a tandem repeat family scattered in the genome found on the short arms of all acrocentric chromosomes as well as on several other chromosomes.
Post-translational modifications for DUX4 Gene
Other Protein References for DUX4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for DUX4
- Novus Biologicals Antibodies for DUX4
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-
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Protein Products
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No data available for DME Specific Peptides for DUX4 Gene
Domains & Families for DUX4 Gene
Gene Families for DUX4 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted intracellular proteins
- Transcription factors
- Transporters
Protein Domains for DUX4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for DUX4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UBX2UniProtKB/Swiss-Prot:
DUX4_HUMAN :- Both homeobox domains confer nuclear targeting.
- Belongs to the paired homeobox family.
- Domain:
-
- Both homeobox domains confer nuclear targeting.
- Family:
-
- Belongs to the paired homeobox family.
Function for DUX4 Gene
Molecular function for DUX4 Gene
- GENATLAS Biochemistry:
- double homeo box protein 4 in the partially deleted D4Z4 locus (FSHD)
- UniProtKB/Swiss-Prot Function:
- Involved in transcriptional regulation. May regulate microRNA (miRNA) expression.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 17984056 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 17984056 |
GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 17984056 |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 26816005 |
Phenotypes for DUX4 Gene
- GenomeRNAi human phenotypes for DUX4:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for DUX4 gene
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CRISPR Products
-
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-
Vectors and viruses for KO, Activation, Repression, and more
miRNA Products
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Inhibitory RNA Products
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Clone Products
- VectorBuilder custom plasmid, inducible vectors for DUX4
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for DUX4
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for DUX4
-
ViGene Biosciences adenoviral particle packaged cDNA for DUX4 gene
-
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No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DUX4 Gene
Localization for DUX4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for DUX4 Gene
- Nucleus. Note=Actively transported through the nuclear pore complex (NPC).
- Nucleoli (3)
- Nucleus (3)
- Cytosol (2)
- Golgi apparatus (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | 17984056 |
GO:0005654 | nucleoplasm | IDA | 17588759 |
GO:0005730 | nucleolus | IDA | -- |
GO:0005794 | Golgi apparatus | IDA | -- |
GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for DUX4 Gene
Interacting Proteins for DUX4 Gene
Symbol | External ID(s) | Details |
---|---|---|
DES | ||
DES (XENO) | ||
DUX4 | ||
IPO13 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006351 | transcription, DNA-templated | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006366 | transcription by RNA polymerase II | IEA | -- |
GO:0006915 | apoptotic process | IDA | 17588759 |
GO:0008285 | negative regulation of cell proliferation | IDA | 24589735 |
No data available for Pathways by source and SIGNOR curated interactions for DUX4 Gene
Transcripts for DUX4 Gene
mRNA/cDNA for DUX4 Gene
- (5) REFSEQ mRNAs :
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for DUX4
- Applied Biological Materials CRISPR for DUX4
-
Vectors and viruses for KO, Activation, Repression, and more
miRNA Products
- Search ViGene Biosciences for DUX4
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for DUX4
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Clone Products
- VectorBuilder custom plasmid, inducible vectors for DUX4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for DUX4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for DUX4
- Applied Biological Materials Clones for DUX4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for DUX4 Gene
NURSA nuclear receptor signaling pathways regulating expression of DUX4 Gene:
DUX4mRNA Expression by UniProt/SwissProt for DUX4 Gene:
Q9UBX2-DUX4_HUMANEvidence on tissue expression from TISSUES for DUX4 Gene
- Muscle(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for DUX4 Gene
- ectoderm
- endoderm
- mesoderm
- digestive
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
- brain
- cranial nerve
- eye
- eyelid
- face
- head
- mouth
- tongue
- clavicle
- lung
- scapula
- abdominal wall
- pelvis
- arm
- humerus
- lower limb
- shin
- shoulder
- upper limb
- hair
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for DUX4
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for DUX4 Gene
Orthologs for DUX4 Gene
No data available for Orthologs for DUX4 Gene
Paralogs for DUX4 Gene
(20) SIMAP similar genes for DUX4 Gene using alignment to 25 proteins:
- DUX4_HUMAN
- C3U395_HUMAN
- C3U396_HUMAN
- C3U397_HUMAN
- C3U398_HUMAN
- C3U399_HUMAN
- C3U3A0_HUMAN
- E0YLM6_HUMAN
- E0Z3E7_HUMAN
- E0Z3E8_HUMAN
- E0Z3E9_HUMAN
- E0Z3F0_HUMAN
- E0Z3F1_HUMAN
- E0Z3F3_HUMAN
- E0Z3F7_HUMAN
- E0Z3G4_HUMAN
- E0Z3H0_HUMAN
- E0Z3H2_HUMAN
- E0Z3H5_HUMAN
- E2JJS1_HUMAN
- F8QWT8_HUMAN
- F8QWU0_HUMAN
- F8QWU1_HUMAN
- F8QWU2_HUMAN
- Q14333_HUMAN
Pseudogenes.org Pseudogenes for DUX4 Gene
- PGOHUM00000291293
- PGOHUM00000291373
- PGOHUM00000305891
- PGOHUM00000305892
- PGOHUM00000306536
- PGOHUM00000305914
- PGOHUM00000293825
- PGOHUM00000293832
- PGOHUM00000305983
- PGOHUM00000296945
- PGOHUM00000306554
- PGOHUM00000296962
- PGOHUM00000305986
- PGOHUM00000297085
- PGOHUM00000305988
- PGOHUM00000306004
- PGOHUM00000297401
- PGOHUM00000297409
- PGOHUM00000306011
- PGOHUM00000306012
- PGOHUM00000306043
- PGOHUM00000306055
- PGOHUM00000300470
- PGOHUM00000300910
- PGOHUM00000303875
- PGOHUM00000306163
- PGOHUM00000306805
- PGOHUM00000305463
- PGOHUM00000306228
- PGOHUM00000305642
- PGOHUM00000305643
- PGOHUM00000305644
- PGOHUM00000290127
- PGOHUM00000290324
- PGOHUM00000290326
Variants for DUX4 Gene
SNP ID | Clin | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2975228 | -- | 190,175,869(+) | G/C | downstream_transcript_variant | |
rs2975229 | -- | 190,175,918(+) | A/G | downstream_transcript_variant | |
rs71271247 | -- | 190,176,319(+) | T/G | downstream_transcript_variant | |
rs71271248 | -- | 190,176,337(+) | C/T | downstream_transcript_variant |
Additional Variant Information for DUX4 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- DUX4
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for DUX4 Gene
Disorders for DUX4 Gene
Disorder | Aliases | PubMed IDs |
---|---|---|
facioscapulohumeral muscular dystrophy 1 |
|
|
muscular dystrophy |
|
|
muscle tissue disease |
|
|
ewing sarcoma |
|
|
UniProtKB/Swiss-Prot
DUX4_HUMAN- Facioscapulohumeral muscular dystrophy 1 (FSHD1) [MIM:158900]: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. {ECO:0000269 PubMed:10433963, ECO:0000269 PubMed:19320656}. Note=The gene represented in this entry is involved in disease pathogenesis. The disease is caused by deletion of an integral number of units of a 3.3-kb tandem repeats, termed D4Z4 macrosatellite, located on chromosome 4q35. In unaffected subjects, the D4Z4 array consists of 11-150 repeats, while in FSHD1 patients, the array is reduced to 1-10 repeats (PubMed:19320656). DUX4 is located in D4Z4 macrosatellite which is epigenetically repressed in somatic tissues. D4Z4 chromatin relaxation in FSHD1 results in inefficient epigenetic repression of DUX4 and a variegated pattern of DUX4 protein expression in a subset of skeletal muscle nuclei. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death. {ECO:0000269 PubMed:19320656}.
Additional Disease Information for DUX4
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for DUX4 Gene
Publications for DUX4 Gene
- Defective regulation of microRNA target genes in myoblasts from facioscapulohumeral dystrophy patients. (PMID: 24145033) Dmitriev P … Vassetzky YS (The Journal of biological chemistry 2013) 3 4 58
- A unifying genetic model for facioscapulohumeral muscular dystrophy. (PMID: 20724583) Lemmers RJ … van der Maarel SM (Science (New York, N.Y.) 2010) 2 3 58
- Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. (PMID: 21060811) Snider L … Miller DG (PLoS genetics 2010) 3 4 58
- Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. (PMID: 19320656) Mostacciuolo ML … Trevisan CP (Clinical genetics 2009) 3 4 58
- Intracellular trafficking and dynamics of double homeodomain proteins. (PMID: 15709750) Ostlund C … Worman HJ (Biochemistry 2005) 3 4 58
Products for DUX4 Gene
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for DUX4
- Search GeneTex for Antibodies for DUX4
- Search GeneTex for Proteins for DUX4
- ViGene Biosciences adenoviral particle packaged cDNA for DUX4 gene
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Sources for DUX4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
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- (20) STRING
- (21) IntAct
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- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
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- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
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- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
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- (92) COMPARTMENTS
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- (147) Gene ORGANizer
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- (150) Human Protein Atlas
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- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew