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DUOXA2 Gene

protein-coding   GIFtS: 48
GCID: GC15P045406

Dual Oxidase Maturation Factor 2

  See DUOXA2-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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 rapsn-related congenital myasthenic syndrome. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NC_018926.2  NT_010194.18  
Regulatory elements:
   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 Chromatin IP Primers for DUOXA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DOXA2_HUMAN, Q1HG44 (See protein sequence)
Recommended Name: Dual oxidase maturation factor 2  
Size: 320 amino acids; 34787 Da
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: 

  • N-glycosylated1
  • Glycosylation2 at Asn84, Asn109, Asn121

  • See DUOXA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_997464.2  
    ENSEMBL proteins: 
     ENSP00000319705   ENSP00000454110  

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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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    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


    Find genes that share domains with DUOXA2           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: 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

    Phenotypes:
         12 MGI mutant phenotypes (inferred from 1 allele(MGI details for Duoxa2):

     behavior/neurological  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  limbs/digits/tail  mortality/aging  nervous system  respiratory system 
     skeleton  vision/eye 

    Find genes that share phenotypes with DUOXA2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Duoxa1/Duoxa2Duoxa1/tm1.1Sref for DUOXA2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DUOXA2
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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
    DOXA2_HUMAN, Q1HG44: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with DUOXA2           About GenesLikeMe


    (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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    SuperPaths for DUOXA2 About    
    See pathways by source

    SuperPathContained pathways About
    1Insulin secretion
    Thyroid hormone synthesis0.36


    Find genes that share SuperPaths with DUOXA2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DUOXA2
    Interactions:

        Search GeneGlobe Interaction Network for DUOXA2

    Gene Ontology (GO): 1 biological process term:    About this table

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

    Find genes that share ontologies with DUOXA2           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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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    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 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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    Additional mRNA sequence: 

    AK303955.1 BC137465.1 DQ489734.1 

    4 DOTS entries:

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

    Selected AceView cDNA sequences (see all 27):

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

    DUOXA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DUOXA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.497987

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

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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 animals.

    Orthologs for DUOXA2 gene from Selected species (see all 14)    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 DUOXA1L1 dual oxidase maturation factor 1-like 58.36(n)
    49.83(a)
      427483  XM_425054.3  XP_425054.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    50(a)
    1 → many
    GL343490.1(227341-238894)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017331321 dual oxidase maturation factor 1-like 51.57(n)
    45.93(a)
      101733132  XM_004918269.1  XP_004918326.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003302881 dual oxidase maturation factor 2-like 57.31(n)
    48.97(a)
      100330288  XM_002666907.2  XP_002666953.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta mol6
    moladietz
    19(a)
    1 → many
    2L(14975747-14997559)
    worm
    (Caenorhabditis elegans)
    Secernentea doxa-16
    Protein DOXA-1 (doxa-1) mRNA, complete cds
    21(a)
    1 → many
    III(8581102-8583910) WBGene00015519


    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)
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    Paralogs for DUOXA2 gene
    DUOXA12  
    1 SIMAP similar gene for DUOXA2 using alignment to 1 protein entry:     DOXA2_HUMAN:
    DUOXA1

    Find genes that share paralogs with DUOXA2           About GenesLikeMe



    (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 DUOXA2 (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
    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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 3 diseases for DUOXA2:    
    About MalaCards
    thyroid dyshormonogenesis 5    rapsn-related congenital myasthenic syndrome    bile reflux

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

    Find genes that share disorders with DUOXA2           About GenesLikeMe

    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)
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    PubMed articles for DUOXA2 gene, integrated from 10 sources (see all 14):
    (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. (J. Biol. Chem. 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. (J. Clin. Endocrinol. Metab. 2008)
    3. A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism. (PubMed id 23292166)1 Yi R.H....Su Y.Q. (Int. J. Mol. Med. 2013)
    4. The type of DUOX-dependent ROS production is dictated by defined sequences in DUOXA. (PubMed id 22814254)1 Hoste C....De Deken X. (Exp. Cell Res. 2012)
    5. Dual oxidase 2 bidirectional promoter polymorphisms confer differential immune responses in airway epithelia. (PubMed id 22592922)1 Xu C....Harper R.W. (Am. J. Respir. Cell Mol. Biol. 2012)
    6. Up-regulation and sustained activation of Stat1 are essential for interferon-gamma (IFN-gamma)-induced dual oxidase 2 (Duox2) and dual oxidase A2 (DuoxA2) expression in human pancreatic cancer cell lines. (PubMed id 21321110)1 Wu Y....Doroshow J.H. (J. Biol. Chem. 2011)
    7. Heterodimerization controls localization of Duox-DuoxA NADPH oxidases in airway cells. (PubMed id 19339556)1 Luxen S....Knaus U.G. (J. Cell. Sci. 2009)
    8. 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. (BMC Gastroenterol 2008)
    9. 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. (Mol. Endocrinol. 2007)
    10. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 405753 HGNC: 32698 AceView: LOC405753 Ensembl:ENSG00000140274 euGenes: HUgn405753
    ECgene: DUOXA2 Kegg: 405753 H-InvDB: DUOXA2

    (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 DUOXA2 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 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



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