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DUXA Gene

protein-coding   GIFtS: 34
GCID: GC19M057663

Double Homeobox A

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(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 A1 2
Double Homeobox Protein A2

External Ids:    HGNC: 321791   Entrez Gene: 5038352   Ensembl: ENSG000002588737   OMIM: 6111685   UniProtKB: A6NLW83   

Export aliases for DUXA gene to outside databases

Previous GC identifers: GC19U900487 GC19M062354 GC19M053975


(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 DUXA Gene:
Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic
development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain.
This gene is a member of the DUXA homeobox gene family. Evidence of mRNA expression has not yet been found for
this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of
this gene in the germ line or embryonic cells. (provided by RefSeq, Jul 2008)

GeneCards Summary for DUXA Gene:
DUXA (double homeobox A) is a protein-coding gene. 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: DUXA_HUMAN, A6NLW8
Function: Putative transcription factor (By similarity)




(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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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the DUXA gene promoter:
         GATA-3   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Meis-1b   GATA-1   GATA-2   FAC1   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDUXA promoter sequence
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DUXA


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

Entrez Gene cytogenetic band: 19q13.43   Ensembl cytogenetic band:  19q13.43   HGNC cytogenetic band: 19q13.43

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M057663:  view genomic region     (about GC identifiers)

Start:
57,663,094 bp from pter      End:
57,678,856 bp from pter
Size:
15,763 bases      Orientation:
minus strand

(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, Cloud-Clone Corp., and/or eBioscience,
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UniProtKB/Swiss-Prot: DUXA_HUMAN, A6NLW8 (See protein sequence)
Recommended Name: Double homeobox protein A  
Size: 204 amino acids; 23817 Da

Explore the universe of human proteins at neXtProt for DUXA: NX_A6NLW8

Explore proteomics data for DUXA at MOPED


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

REFSEQ proteins: NP_001012747.1  
ENSEMBL proteins: 
 ENSP00000452398  

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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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HGNC Gene Families:
PRD: Homeoboxes / PRD class

3 InterPro protein domains:
 IPR000047 HTH_motif
 IPR001356 Homeobox_dom
 IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry A6NLW8

ProtoNet protein and cluster: A6NLW8

UniProtKB/Swiss-Prot: DUXA_HUMAN, A6NLW8
Similarity: Belongs to the paired homeobox family
Similarity: Contains 2 homeobox DNA-binding domains


Find genes that share domains with DUXA           About GenesLikeMe


(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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: DUXA_HUMAN, A6NLW8
Function: Putative transcription factor (By similarity)

     Gene Ontology (GO): 4 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000976transcription regulatory region sequence-specific DNA binding IEA--
GO:0003677DNA binding ----
GO:0003700sequence-specific DNA binding transcription factor activity IEA--
GO:0043565sequence-specific DNA binding ----
     
Find genes that share ontologies with DUXA           About GenesLikeMe


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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
DUXA_HUMAN, A6NLW8: Nucleus (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus3
cytosol2
extracellular1

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

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

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(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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Interactions:

    Search GeneGlobe Interaction Network for DUXA

Gene Ontology (GO): 2 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006351transcription, DNA-templated IEA--
GO:0006355regulation of transcription, DNA-templated ----

Find genes that share ontologies with DUXA           About GenesLikeMe



(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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(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,
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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for DUXA gene: 
NM_001012729.1  

Unigene Cluster for DUXA:

Double homeobox A
Hs.585857
Unigene Representative Sequence: NM_001012729
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000554048(uc002qoa.1)
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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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DUXA expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
DUXA Expression
About this image

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

DUXA Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.585857
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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)
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This gene was present in the common ancestor of mammals.

Orthologs for DUXA gene from Selected species (see all 3)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
dog
(Canis familiaris)
Mammalia DUXA6
double homeobox A
67(a)
1 ↔ 1
1(100891565-100896291)


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for DUXA gene
DUX4L32  DUX4L42  ENSG000002143252  DUX4L52  DUX4L22  DUX42  DUX4L72  DUX4L62  
12 SIMAP similar genes for DUXA using alignment to 1 protein entry:     DUXA_HUMAN:
DUX5    DUX4L2    DUX4L3    DUX4L4    DUX4L5    DUX4L6
DUX4L7    DUX4L9    DUX4    DUX1    DUX3    POU6F1

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Selected Pseudogenes.org Pseudogenes for DUXA (see all 13)
PGOHUM00000238434 PGOHUM00000238760 PGOHUM00000242505 PGOHUM00000247716 PGOHUM00000247847


(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 DUXA (see all 500)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1410190551,2
--57662630(+) GCCTCA/GGCCTC 1 -- ds50010--------
rs762726721,2
C,F--57662721(+) CTACTC/GTATGC 1 -- ds50011Minor allele frequency- G:0.12EA 120
rs741949411,2
C--57662726(+) CTATGC/TTAGGA 1 -- ds50010--------
rs1846531761,2
--57662784(+) TCATAC/TATTTT 1 -- ds50010--------
rs1883186051,2
--57662888(+) TAATCA/CCTAAA 1 -- ds50010--------
rs1158460701,2
C,F--57662897(+) AAGCAC/TCAATA 1 -- ds50011Minor allele frequency- T:0.07WA 118
rs1808295351,2
--57662934(+) GAAGCC/TTGAAG 1 -- ds50010--------
rs1863626781,2
--57663052(+) GTGAAA/CCTTCT 1 -- ds50010--------
rs1896884131,2
--57663183(+) ATTTGC/TGAAGA 1 -- ut310--------
rs1446636901,2
C--57663191(+) AGACTC/TGGATG 1 -- ut310--------

HapMap Linkage Disequilibrium report for DUXA (57663094 - 57678856 bp)

Structural Variations
     Database of Genomic Variants (DGV) 3 variations for DUXA:    About this table    
Variant IDTypeSubtypePubMed ID
esv2669559CNV Deletion23128226
nsv817876CNV Gain17921354
nsv912523CNV Gain21882294

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 611168    OMIM disorders: --

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

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Genetic Association Database (GAD): DUXA

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

  1. Wnt signaling and Dupuytren's disease. (PubMed id 21732829)1, 4 Dolmans G.H.... . (N. Engl. J. Med. 2011)
  2. Annotation, nomenclature and evolution of four novel homeobox genes expressed in the human germ line. (PubMed id 17005330)1, 2 Booth H.A. and Holland P.W.H. (Gene 2007)
  3. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (Nature 2004)

(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: 503835 HGNC: 32179 Ensembl:ENSG00000258873 euGenes: HUgn503835 ECgene: DUXA
H-InvDB: DUXA

(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 DUXA 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 DUXA gene:
Search GeneIP for patents involving DUXA

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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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 Search Addgene for plasmids for DUXA
  Search eBioscience for proteins for DUXA
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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