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DUX2 Gene

protein-coding   GIFtS: 27
GCID: GC04P191045

Double Homeobox 2

(Previous names: double homeobox, 2)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Double Homeobox 21 2
Double Homeobox, 21
Putative Double Homeobox Protein 22

External Ids:    HGNC: 30801   Entrez Gene: 265832   OMIM: 6114425   UniProtKB: O755053   

Export aliases for DUX2 gene to outside databases

Previous GC identifers: GC00U990583 GC04P191692 GC10P135003 GC04M191319 GC04P191231 GC04U900703 GC04P190994 GC04P191015 GC04P191022 GC04P191027 GC04P191032 GC04P191037


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DUX2 Gene:
The human genome contains hundreds of repeats of the 3.3-kb family in regions associated with heterochromatin. The
DUX gene family, including DUX2, resides within these 3.3-kb repeated elements (Beckers et al., 2001 (PubMed
11245978)). See DUX4 (MIM 606009).(supplied by OMIM, Mar 2008)

GeneCards Summary for DUX2 Gene:
DUX2 (double homeobox 2) is a protein-coding gene. Diseases associated with DUX2 include facioscapulohumeral muscular dystrophy, and muscular dystrophy. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is DUX4L2.




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for DUX2
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DUX2


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

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

DUX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DUX2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P191045:  view genomic region     (about GC identifiers)

Start:
190,988,867 bp from pter      End:
190,990,406 bp from pter
Size:
1,540 bases      Orientation:
plus strand

1 alternative location:
Chr4+,NW_003571034 160,642-162,181     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DUX2_HUMAN, O75505 (See protein sequence)
Recommended Name: Putative double homeobox protein 2  
Size: 80 amino acids; 9204 Da
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 DUX2: NX_O75505

Explore proteomics data for DUX2 at MOPED


See DUX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_036279.3  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR001356 Homeobox_dom
 IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry O75505

ProtoNet protein and cluster: O75505

UniProtKB/Swiss-Prot: DUX2_HUMAN, O75505
Similarity: Belongs to the paired homeobox family
Similarity: Contains 1 homeobox DNA-binding domain


DUX2 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, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 2 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003700sequence-specific DNA binding transcription factor activity IEA--
GO:0043565sequence-specific DNA binding IEA--
     
DUX2 for ontologies           About GeneDecksing


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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
DUX2_HUMAN, O75505: Nucleus (Probable)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus3
cytosol1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005634nucleus IEA--

DUX2 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DUX2
Interactions:

    Search GeneGlobe Interaction Network for DUX2

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for DUX2



(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DUX2 gene: 
NM_012147.4  

miRNA
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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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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DUX2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
DUX2 Expression
About this image

DUX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

DUX2 Protein Expression
    Custom PCR Arrays for DUX2
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DUX2

(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)
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  --

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DUX2 gene
DUX4L2  DUX4  DUX4L6  DUX4L3  DUX4L5  DUX4L7  LOC102723538  LOC102723495  
LOC102723449  LOC102723472  DUX4L4  LOC102723423  LOC102723518  LOC100287823  
Selected SIMAP similar genes for DUX2 using alignment to 1 protein entry:     DUX2_HUMAN(see all similar genes):
DUX4L2    DUX4L3    DUX4L4    DUX4L5    DUX4L6    DUX4L7
DUX4L9    DUX4    DUX5    DUX1    DUX3    PITX2
PITX1    TPRX1    DRGX    PHOX2B    PAX4    PRRX1

DUX2 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for DUX2 (see all 103)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 4 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1388884641,2
C--190987219(+) AGGTCC/TAGGCC 1 -- us2k10--------
rs1861224361,2
--190987227(+) GCCGGG/TGAGAG 1 -- us2k10--------
rs3744733441,2
C--190987242(+) CACACA/CCGGAG 1 -- us2k10--------
rs3677906951,2
C--190989638(+) CACACC/TGGCGA 2 T syn10--------
rs1427117201,2
C--190989653(+) GGAACA/GGGGCT 2 T syn10--------
rs1506794661,2
C--190989666(+) CCGCAC/TCCCAC 2 P S mis10--------
rs2001696281,2
C--190989668(+) GCACCA/C/GCACGT 3 P syn10--------
rs1442104901,2
C--190989677(+) GTGCCA/CTGCGC 2 P syn10--------
rs3757500861,2
----190988680(+) GGGATC/TCTGGA 1 -- us2k10--------
rs3715225771,2
----190989509(+) CAGATC/GGGTTT 2 I M mis10--------

HapMap Linkage Disequilibrium report for DUX2 (190988867 - 190990406 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for DUX2 (see all 11):    About this table    
Variant IDTypeSubtypePubMed ID
dgv4n31CNV Duplication19718026
nsv471357CNV Duplication19718026
nsv471487CNV Duplication19718026
nsv10641CNV Loss18304495
nsv428243CNV Gain18775914
nsv896428CNV Gain21882294
nsv482152CNV Gain20164927
esv23426CNV Gain+Loss19812545
esv28562CNV Gain+Loss19812545
nsv8752CNV Gain+Loss18304495

Site Specific Mutation Identification with PCR Assays
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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.)
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OMIM gene information: 611442    OMIM disorders: --

2 diseases for DUX2:    
About MalaCards
facioscapulohumeral muscular dystrophy    muscular dystrophy

1 disease from the University of Copenhagen DISEASES database for DUX2:
Facioscapulohumeral muscular dystrophy

DUX2 for disorders           About GeneDecksing


Export disorders for DUX2 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)
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PubMed articles for DUX2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with DUX2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Characterization of a double homeodomain protein (DUX1) encoded by a cDNA homologous to 3.3-kb dispersed repeated elements. (PubMed id 9736770)1, 2, 3 Ding H....Belayew A. (Hum. Mol. Genet. 1998)
  2. Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements. (PubMed id 11245978)1, 3 Beckers M.-C.... Belayew A. (Gene 2001)
  3. Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. (PubMed id 17668377)1 Clapp J....Hewitt J.E. (Am. J. Hum. Genet. 2007)
  4. DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. (PubMed id 17984056)1 Dixit M....Chen Y.W. (Proc. Natl. Acad. Sci. U.S.A. 2007)
  5. 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 Gabrieels J.... Belayew A. (Gene 1999)
  6. Characterization of a tandemly repeated 3.3-kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. (PubMed id 7739628)1 Lee J.... Arahata K. (Muscle Nerve 1995)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
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)
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Entrez Gene: 26583 HGNC: 3080 euGenes: HUgn26583 ECgene: DUX2 H-InvDB: DUX2

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for DUX2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for DUX2 gene:
Search GeneIP for patents involving DUX2

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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