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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DUX4 Gene

protein-coding GIFtS: 43
GCID: GC04P191005

Double Homeobox 4

6 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Double Homeobox 4¹ ²
Double Homeobox Protein 10² ³
Double Homeobox Protein 4/10² ³
DUX10² ³
Double Homeobox Protein 4²

External Ids:	HGNC: 3082¹	Entrez Gene: 22947²	Ensembl: ENSG00000258389⁷	OMIM: 606009⁵	UniProtKB: Q9UBX2³

Export aliases for DUX4 gene to outside databases

Previous GC identifers: GC04P192017 GC10P134609 GC04P191585 GC04P191697 GC04P191683 GC04P191376 GC04P191232 GC04P191240 GC04P191251 GC04P191254 GC04P191257 GC04P191260

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary 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.

There is no evidence for transcription of this gene from standard cDNA libraries, however, RT-PCR and in vitro

expression experiments indicate that the ORF is transcribed. 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,

May 2013)

GeneCards Summary for DUX4 Gene:

DUX4 (double homeobox 4) is a protein-coding gene. Diseases associated with DUX4 include facioscapulohumeral muscular dystrophy, and muscular dystrophy. GO annotations related to this gene include transcription regulatory region sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is DUX4L3.

UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2

Function: Involved in transcriptional regulation

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NT_016354.19

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for DUX4
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DUX4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q35 Ensembl cytogenetic band: 4q35.2 HGNC cytogenetic band: 4q35.2

DUX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DUX4 gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P191005: view genomic region (about GC identifiers)

Start:	191,005,267 bp from pter	End:	191,007,077 bp from pter
Size:	1,811 bases	Orientation:	plus strand

1 alternative location:

Chr4+,NW_003571034 177,042-178,658

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2 (See protein sequence)

Recommended Name: Double homeobox protein 4

Size: 424 amino acids; 44940 Da

Subunit: May exist as a monomer or a dimer

Subcellular location: Nucleus. Note=Actively transported through the nuclear pore complex (NPC)

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

Explore the universe of human proteins at neXtProt for DUX4: NX_Q9UBX2

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q9UBX2

DUX4 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : --

REFSEQ proteins: NP_149418.4

ENSEMBL proteins:

ENSP00000473851 ENSP00000451207 ENSP00000451304

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--

DUX4 for ontologies About GeneDecksing

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

PRD: Homeoboxes / PRD class

3 InterPro protein domains:

IPR000047 HTH_motif

IPR001356 Homeodomain

IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry Q9UBX2

ProtoNet protein and cluster: Q9UBX2

1 Blocks protein domain: IPB000047 Lambda and other repressor helix-turn-helix signature

UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2

Domain: Both homeobox domains confer nuclear targeting

Similarity: Belongs to the paired homeobox family

Similarity: Contains 2 homeobox DNA-binding domains

DUX4 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: DUX4_HUMAN, Q9UBX2

Function: Involved in transcriptional regulation

Genatlas biochemistry entry for DUX4:

double homeo box protein 4 in the partially deleted D4Z4 locus (FSHD)

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	--
GO:0003677	DNA binding	--	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0043565	sequence-specific DNA binding	--	--

DUX4 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for DUX4:

Increased HPV18 LCR reporter a

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for DUX4

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In Situ Assay
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DUX4

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	--	--

DUX4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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Search CenterWatch for drugs/clinical trials and news about DUX4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for DUX4 gene:

NM_033178.4

Unigene Cluster for DUX4:

Double homeobox 4

Hs.553518

Unigene Representative Sequence: NM_033178

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000605758 ENST00000554285 ENST00000556625(uc010ist.1)

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1 AceView cDNA sequence:

NM_033178

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DUX4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

Genevestigator expression for DUX4

SOURCE GeneReport for Unigene cluster: Hs.553518

UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2

Tissue specificity: Does not seem to be expressed in normal muscle, but in muscle of individuals with FSHD, where it

may be toxic to cells

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of mammals.

Orthologs for DUX4 gene from 1/2 species (see all 2) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
dog (Canis familiaris)	Mammalia	LOC100683783¹	double homeobox protein 4-like protein 2-like	59.6(n) 52.32(a)		100683783 XM_003435433.1 XP_003435481.1

ENSEMBL Gene Tree for DUX4 (if available)
TreeFam Gene Tree for DUX4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DUX4 gene

DUX4L2¹ ² DUX4L5¹ ² DUX4L6¹ ² DUX4L3¹ ² DUX4L7¹ ² DUX4L4¹ ² DUX2 ENSG00000214325²

DUXA²

18/23 SIMAP similar genes for DUX4 using alignment to 25 protein entries: DUX4_HUMAN (see all proteins) (see all similar genes):

DUX4L2 DUX4L3 DUX4L5 DUX4L6 DUX4L7 DUX4L4

DUX4L9 DUX2 DUX5 DUX1 DUX3 HPX-2

CIC/DUX4 fusion LHX3 MSX1 PRRX1 PITX2 PAX6

DUX4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

Structural Variations
Database of Genomic Variants (DGV) 10/11 variations for DUX4 (see all 11): About this table

Variant ID	Type	Subtype	PubMed ID
dgv4n31	CNV	Duplication	19718026
nsv471357	CNV	Duplication	19718026
nsv471487	CNV	Duplication	19718026
nsv10641	CNV	Loss	18304495
nsv428243	CNV	Gain	18775914
nsv896428	CNV	Gain	21882294
nsv482152	CNV	Gain	20164927
esv23426	CNV	Gain+Loss	19812545
esv28562	CNV	Gain+Loss	19812545
nsv8752	CNV	Gain+Loss	18304495

Human Gene Mutation Database (HGMD): DUX4

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DUX4 for disorders About GeneDecksing

OMIM gene information: 606009 OMIM disorders: --

UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2

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. 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

6 diseases for DUX4: About MalaCards

facioscapulohumeral muscular dystrophy muscular dystrophy cervical cancer cervicitis

hepatocellular carcinoma sarcoma

Genetic Association Database (GAD): DUX4
Human Genome Epidemiology (HuGE) Navigator: DUX4 (1 document)

Export disorders for DUX4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for DUX4 gene, integrated from 9 sources (see all 44):
(articles sorted by number of sources associating them with DUX4)

Utopia: connect your pdf to the dynamic
world of online information

Intracellular trafficking and dynamics of double homeodomain proteins. (PubMed id 15709750)^{1, 2, 9} Oestlund C.... Worman H.J. (2005)
Polymorphism of the D4Z4 locus associated with facioscapulohumeral muscular dystrophy 1A in Shanghai population. (PubMed id 16086272)^{1, 4} Zhang Y.Z....Urtizberea J.A. (2005)
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. (PubMed id 10433963)^{1, 2} Gabrieels J.... Belayew A. (1999)
DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. (PubMed id 17984056)^{1, 9} Dixit M....Chen Y.W. (2007)
Intrinsic epigenetic regulation of the D4Z4 macrosatel lite repeat in a transgenic mouse model for FSHD. (PubMed id 23593020)¹ Krom Y.D....van der Maarel S.M. (2013)
A focal domain of extreme demethylation within D4Z4 in FSHD2. (PubMed id 23284062)¹ Hartweck L.M....Kyba M. (2013)
Expression of the Human FSHD-Linked DUX4 Gene Induces Neurogenesis During Differentiation of Murine Embryonic Stem Cells. (PubMed id 23560660)¹ Dandapat A....Kyba M. (2013)
DUX4 expression in FSHD muscle cells: how could such a rare protein cause a myopathy? (PubMed id 23206257)¹ Tassin A....Belayew A. (2013)
Expression of DUX4 in zebrafish development recapitula tes facioscapulohumeral muscular dystrophy. (PubMed id 23108159)¹ Mitsuhashi H....Kunkel L.M. (2013)
Telomere position effect regulates DUX4 in human facio scapulohumeral muscular dystrophy. (PubMed id 23644600)¹ Stadler G....Wright W.E. (2013)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 22947	HGNC: 3082	AceView: DUX4	Ensembl:ENSG00000258389	euGenes: HUgn22947
ECgene: DUX4	H-InvDB: DUX4

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for DUX4	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DUX4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for DUX4 gene:
Search GeneIP for patents involving DUX4

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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	GenScript Custom Purified and Recombinant Proteins Services for DUX4		GenScript cDNA clones with any tag delivered in your preferred vector for DUX4
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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ThermoFisher Antibody for DUX4

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LSBio Antibodies in human, mouse, rat for DUX4

GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013

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Category			TGFB1 (GIFtS: 73) transforming growth factor, beta 1
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The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

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Double Homeobox 4

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DUX4 Gene

Double Homeobox 4

Aliasesfor DUX4 gene

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Protein Domains /Familiesfor DUX4 gene

Functionfor DUX4 gene

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for DUX4 gene

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for DUX4 gene

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for DUX4 gene

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for DUX4 gene

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for DUX4 gene

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