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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DUX2 Gene

protein-coding   GIFtS: 30
GCID: GC04P191037

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)
About This Section

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


(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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.2  NT_016354.19  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for DUX2
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC04P191037:  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 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: DUX2_HUMAN, O75505 (See protein sequence)
Recommended Name: Putative double homeobox protein 2  
Size: 80 amino acids; 9204 Da
Subcellular location: Nucleus (Probable)
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

DUX2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

REFSEQ proteins: NP_036279.3  
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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

DUX2 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
2 InterPro protein domains:
 IPR001356 Homeodomain
 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, 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, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    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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(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:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DUX2

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
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Browse Tocris compounds for DUX2

Search CenterWatch for drugs/clinical trials and news about 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,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DUX2 gene: 
NM_012147.4  

Unigene Cluster for DUX2:

Double homeobox 2
Hs.729867
Unigene Representative Sequence: NM_012147
miRNA
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5 DOTS entries:

DT.121217821  DT.121232267  DT.121256515  DT.121270174  DT.99948979 

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

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


Genevestigator expression for DUX2

SOURCE GeneReport for Unigene cluster: Hs.729867
    SABiosciences Custom PCR Arrays for DUX2
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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 DUX2 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 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for DUX2 gene
DUX4L2  DUX4L5  DUX4  DUX4L6  DUX4L3  DUX4L7  DUX4L4  
18/33 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    PRRX2

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) 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

10/103 SNPs in DUX2 are shown (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) 10/11 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

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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
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)
About This Section

PubMed articles for DUX2 gene integrated from 9 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. (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. (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. (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. (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. (1999)
  6. Characterization of a tandemly repeated 3.3kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. (PubMed id 7739628)1 Lee J.... Arahata K. (1995)

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

(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
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.)
About This Section
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



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About This Section

 
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 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat DUX2
 inGenious Targeting Laboratory - Custom generated mouse model solutions for DUX2
 inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DUX2
Customized:
 lentivirus for stable overexpression of DUX2
 lentivirus expression plasmids for stable overexpression of DUX2
 adenovirus for overexpression of DUX2
 Search LSBio for Antibodies for DUX2
Customized transgenic rodents for:
 Humanization
 Biomarker expression
 Off-target effect monitoring
 Translational medicine
 Tissue-specific gene expresssion
 Time-controlled gene expresssion
       
GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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