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

DUOXA2 Gene

protein-coding   GIFtS: 47
GCID: GC15P045406

Dual Oxidase Maturation Factor 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
Dual Oxidase Maturation Factor 21 2
TDH52 5
SIMNIPHOM2
Dual Oxidase Activator 23

External Ids:    HGNC: 326981   Entrez Gene: 4057532   Ensembl: ENSG000001402747   OMIM: 6127725   UniProtKB: Q1HG443   

Export aliases for DUOXA2 gene to outside databases

Previous GC identifers: GC15P043194 GC15P022230


(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 DUOXA2 Gene:
This gene encodes an endoplasmic reticulum protein that is necessary for proper cellular localization and
maturation of functional dual oxidase 2. Mutations in this gene have been associated with thyroid
dyshormonogenesis 5.(provided by RefSeq, Feb 2010)

GeneCards Summary for DUOXA2 Gene: 
DUOXA2 (dual oxidase maturation factor 2) is a protein-coding gene. Diseases associated with DUOXA2 include thyroid dyshormonogenesis 5, and congenital hypothyroidism, and among its related super-pathways are Insulin secretion. An important paralog of this gene is DUOXA1.

UniProtKB/Swiss-Prot: DOXA2_HUMAN, Q1HG44
Function: Required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of
functional DUOX2. May play a role in thyroid hormone synthesis




(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_000015.9  NC_018926.2  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DUOXA2 gene promoter:
         GR   ER-alpha   Elk-1   HOXA3   GR-beta   Pax-2   IRF-1   HEN1   c-Myb   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDUOXA2 promoter sequence
   Search SABiosciences Chromatin IP Primers for DUOXA2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DUOXA2


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

Entrez Gene cytogenetic band: 15q15.1   Ensembl cytogenetic band:  15q21.1   HGNC cytogenetic band: 15q21.1

DUOXA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DUOXA2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P045406:  view genomic region     (about GC identifiers)

Start:
45,406,519 bp from pter      End:
45,410,619 bp from pter
Size:
4,101 bases      Orientation:
plus strand

(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: DOXA2_HUMAN, Q1HG44 (See protein sequence)
Recommended Name: Dual oxidase maturation factor 2  
Size: 320 amino acids; 34787 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: B2RPI9 H0YNQ6
Alternative splicing: 2 isoforms:  Q1HG44-1   Q1HG44-2   

Explore the universe of human proteins at neXtProt for DUOXA2: NX_Q1HG44

Explore proteomics data for DUOXA2 at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated
  • View neXtProt modification sites for NX_Q1HG44

  • DUOXA2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    DUOXA2 Protein Expression
    REFSEQ proteins: NP_997464.2  
    ENSEMBL proteins: 
     ENSP00000319705   ENSP00000454110  

    Human Recombinant Protein Products for DUOXA2: 
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    Cloud-Clone Corp. Proteins for DUOXA2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane IEA--

    DUOXA2 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
    1 InterPro protein domain:
     IPR018469 Dual_oxidase_maturation_fac

    Graphical View of Domain Structure for InterPro Entry Q1HG44

    ProtoNet protein and cluster: Q1HG44

    UniProtKB/Swiss-Prot: DOXA2_HUMAN, Q1HG44
    Similarity: Belongs to the DUOXA family


    DUOXA2 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DOXA2_HUMAN, Q1HG44
    Function: Required for the maturation and the transport from the endoplasmic reticulum to the plasma membrane of
    functional DUOX2. May play a role in thyroid hormone synthesis

    Animal Models:

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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

    SuperPaths for DUOXA2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Insulin secretion
    Thyroid hormone synthesis0.36

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for DUOXA2):
        Thyroid hormone synthesis


    DUOXA2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DUOXA2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015031protein transport IEA--

    DUOXA2 for ontologies           About GeneDecksing



    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for DUOXA2 (DOXA2)

    Search CenterWatch for drugs/clinical trials and news about DUOXA2 / DOXA2

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 DUOXA2 gene: 
    NM_207581.3  

    Unigene Cluster for DUOXA2:

    Dual oxidase maturation factor 2
    Hs.497987  [show with all ESTs]
    Unigene Representative Sequence: NM_207581
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000323030(uc001zuo.3) ENST00000350243 ENST00000491993(uc010beb.3)

    miRNA
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    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of DUOXA2 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DUOXA2

    Additional mRNA sequence: 

    AK303955.1 BC137465.1 DQ489734.1 

    4 DOTS entries:

    DT.121016596  DT.423397  DT.121016597  DT.99939778 

    24/27 AceView cDNA sequences (see all 27):

    AI281211 AI274929 AI984141 AI991272 AI304327 AI732165 AI262416 AI791844 
    AI826629 AI821178 AA593860 AI660493 AW009962 BX479782 AA573825 BV188008 
    BX537581 AI821606 AI660560 AI983793 AI346155 NM_207581 AW050605 BM987789 

    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

    DUOXA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGCAGGCTT
    DUOXA2 Expression
    About this image


    See DUOXA2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DUOXA2

    SOURCE GeneReport for Unigene cluster: Hs.497987

    UniProtKB/Swiss-Prot: DOXA2_HUMAN, Q1HG44
    Tissue specificity: Specifically expressed in thyroid. Also detected in salivary glands

        SABiosciences Custom PCR Arrays for DUOXA2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DUOXA2

    (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 animals.

    Orthologs for DUOXA2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Duoxa21 , 5 dual oxidase maturation factor 21, 5 81.39(n)1
    78.55(a)1
      2 (60.62 cM)5
    668111  NM_025777.21  NP_080053.11 
     1222989005 
    chicken
    (Gallus gallus)
    Aves DUOXA16
    DUOXA16
    Uncharacterized protein
    45(a)
    42(a)
    many ↔ many
    many ↔ many
    10(536876-541826)
    10(529850-533783)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    49(a)
    1 → many
    GL343490.1(227341-238894)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003302881 dual oxidase maturation factor 2-like 57.31(n)
    48.97(a)
      100330288  XM_002666907.1  XP_002666953.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mol6
    moladietz
    19(a)
    1 → many
    2L(14975747-14997559)
    worm
    (Caenorhabditis elegans)
    Secernentea doxa-16
    DUOXA-like protein C06E1.3
    21(a)
    1 → many
    III(8581102-8583910)


    ENSEMBL Gene Tree for DUOXA2 (if available)
    TreeFam Gene Tree for DUOXA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DUOXA2 gene
    DUOXA12  
    2 SIMAP similar genes for DUOXA2 using alignment to 1 protein entry:     DOXA2_HUMAN:
    NIP    DUOXA1

    DUOXA2 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

    10/36 SNPs in DUOXA2 are shown (see all 36)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs47745181,2
    C,F,Hpathogenic125476115(+) CAGTAC/G/TGGCGC 2 Y * stg1 ese37NS EA EU 1179
    rs1995197541,2
    C--45408408(+) CAGCCC/TGTGTC 2 R C mis11Minor allele frequency- T:0.00EU 1323
    rs25760901,2,4
    C,F,O,H--45408414(+) GTGTCG/CGTCTG 2 /R /G mis1 ese320Minor allele frequency- C:0.08NA NS EA WA CSA EU 2204
    rs3754041181,2
    C--45408419(+) CGTCTA/GCTCGT 2 L syn10--------
    rs1152517561,2
    C,F--45408639(+) CCCCCA/GCTTTC 1 -- int11Minor allele frequency- G:0.03WA 118
    rs2022017131,2
    --45408680(+) CGACCG/TCGGGC 1 -- int10--------
    rs25760911,2
    C,F,A,H--45408691(+) AGCCCG/CATGAG 1 -- int112Minor allele frequency- C:0.16NA WA CSA EU 849
    rs22523711,2
    C,F,A,H--45408699(+) GAGCCT/CGCCTC 1 -- int123Minor allele frequency- C:0.33NS EA NA CSA WA EU 2939
    rs25544591,2
    C,F,A,H--45408710(+) ACCCCG/ACAGGG 1 -- int121Minor allele frequency- A:0.08EA NS NA WA CSA EU 2564
    rs2018084431,2
    C,F--45408836(+) CAGTGC/GTCTAC 2 L V mis11Minor allele frequency- G:0.00EU 1293

    HapMap Linkage Disequilibrium report for DUOXA2 (45406519 - 45410619 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for DUOXA2:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv2378n71CNV Loss21882294
    dgv744e1CNV Complex17122850
    nsv7264OTHER Inversion18451855


    Human Gene Mutation Database (HGMD): DUOXA2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DUOXA2
    DNA2.0 Custom Variant and Variant Library Synthesis for DUOXA2

    (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: 612772   
    OMIM disorders: 274900  
    UniProtKB/Swiss-Prot: DOXA2_HUMAN, Q1HG44
  • Thyroid dyshormonogenesis 5 (TDH5) [MIM:274900]: A disorder due to thyroid dyshormonogenesis, causing
    hypothyroidism, goiter, and variable mental deficits derived from unrecognized and untreated hypothyroidism.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for DUOXA2:    About MalaCards
    thyroid dyshormonogenesis 5    congenital hypothyroidism    hypothyroidism    goiter
    thyroiditis    ulcerative colitis    pancreatic cancer    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for DUOXA2:
    Congenital hypothyroidism

    DUOXA2 for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: DUOXA2 (1 document)

    Export disorders for DUOXA2 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 DUOXA2 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with DUOXA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. (PubMed id 16651268)1, 2, 3 Grasberger H. and Refetoff S. (2006)
    2. Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. (PubMed id 18042646)1, 2 Zamproni I.... Weber G. (2008)
    3. The type of DUOX-dependent ROS production is dictated by defined sequences in DUOXA. (PubMed id 22814254)1 Hoste C....De Deken X. (2012)
    4. Dual oxidase 2 bidirectional promoter polymorphisms co nfer differential immune responses in airway epithelia. (PubMed id 22592922)1 Xu C....Harper R.W. (2012)
    5. Up-regulation and sustained activation of Stat1 are e ssential for interferon-gamma (IFN-gamma)-induced dual oxidase 2 (Duox2) and du al oxidase A2 (DuoxA2) expression in human pancreatic cancer cell lines. (PubMed id 21321110)1 Wu Y....Doroshow J.H. (2011)
    6. Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells. (PubMed id 19339556)1 Luxen S....Knaus U.G. (2009)
    7. Five mucosal transcripts of interest in ulcerative colitis identified by quantitative real-time PCR: a prospective study. (PubMed id 18700007)1 Eriksson A....Lange S. (2008)
    8. Missense mutations of dual oxidase 2 (DUOX2) implicated in congenital hypothyroidism have impaired trafficking in cells reconstituted with DUOX2 maturation factor. (PubMed id 17374849)1 Grasberger H....Refetoff S. (2007)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)2 Zody M.C....Nusbaum C. (2006)

    (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: 405753 HGNC: 32698 AceView: LOC405753 Ensembl:ENSG00000140274 euGenes: HUgn405753
    ECgene: DUOXA2 Kegg: 405753 H-InvDB: DUOXA2

    (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 DUOXA2 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 DUOXA2 gene:
    Search GeneIP for patents involving DUOXA2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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