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DUOX2 Gene

protein-coding   GIFtS: 55
GCID: GC15M045384

Dual Oxidase 2

  See DUOX2-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 21 2     Long NOX 22 3
NADH/NADPH Thyroid Oxidase P138-Tox1 2 3     Thyroid Oxidase 22 3
NADPH Oxidase/Peroxidase DUOX21 2 3     LNOX22 3
NADPH Thyroid Oxidase 21 2 3     P138 Thyroid Oxidase2 3
THOX22 3 5     TDH62 5
Dual Oxidase-Like Domains 21 2     NOXEF22
Flavoprotein NADPH Oxidase1 2     P138-TOX2
Nicotinamide Adenine Dinucleotide Phosphate Oxidase1 2     EC 1.11.1.-3
Large NOX 22 3     EC 1.6.3.13

External Ids:    HGNC: 132731   Entrez Gene: 505062   Ensembl: ENSG000001402797   OMIM: 6067595   UniProtKB: Q9NRD83   

Export aliases for DUOX2 gene to outside databases

Previous GC identifers: GC15M040943 GC15M038431 GC15M042963 GC15M043100 GC15M043172 GC15M022209


(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 DUOX2 Gene:
The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of
thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells.
This complex contains an iodide transporter, thyroperoxidase, and a peroxide generating system that includes this
encoded protein and DUOX1. This protein is known as dual oxidase because it has both a peroxidase homology domain
and a gp91phox domain. (provided by RefSeq, Jul 2008)

GeneCards Summary for DUOX2 Gene:
DUOX2 (dual oxidase 2) is a protein-coding gene. Diseases associated with DUOX2 include transient congenital hypothyroidism, and genetic transient congenital hypothyroidism. GO annotations related to this gene include peroxidase activity and calcium ion binding. An important paralog of this gene is CYBB.

UniProtKB/Swiss-Prot: DUOX2_HUMAN, Q9NRD8
Function: Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and
lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial
defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like
domain

Gene Wiki entry for DUOX2 (Dual oxidase 2) Gene


(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  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DUOX2 gene promoter:
         GR   ER-alpha   HOXA3   p53   AP-1   GR-beta   IRF-1   C/EBPalpha   HEN1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDUOX2 promoter sequence
   Search Chromatin IP Primers for DUOX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DUOX2


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

Entrez Gene cytogenetic band: 15q15.3   Ensembl cytogenetic band:  15q21.1   HGNC cytogenetic band: 15q15.3-q21

DUOX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DUOX2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M045384:  view genomic region     (about GC identifiers)

Start:
45,384,848 bp from pter      End:
45,406,542 bp from pter
Size:
21,695 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,
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: DUOX2_HUMAN, Q9NRD8 (See protein sequence)
Recommended Name: Dual oxidase 2 precursor  
Size: 1548 amino acids; 175364 Da
Subunit: Interacts with TXNDC11, TPO and CYBA
Developmental stage: Widely expressed in fetal tissues
Secondary accessions: A8MQ13 Q9NR02 Q9UHF9

Explore the universe of human proteins at neXtProt for DUOX2: NX_Q9NRD8

Explore proteomics data for DUOX2 at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • Glycosylation2 at Asn100, Asn348, Asn382, Asn455, Asn537
  • Modification sites at PhosphoSitePlus

  • See DUOX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_054799.4  
    ENSEMBL proteins: 
     ENSP00000373691   ENSP00000475084  

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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:
    EFHAND: EF-hand domain containing

    Selected InterPro protein domains (see all 11):
     IPR017927 Fd_Rdtase_FAD-bd
     IPR002007 Haem_peroxidase_animal
     IPR018247 EF_Hand_1_Ca_BS
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom

    Graphical View of Domain Structure for InterPro Entry Q9NRD8

    ProtoNet protein and cluster: Q9NRD8

    1 Blocks protein domain: IPB013130 Ferric reductase-like transmembrane component

    UniProtKB/Swiss-Prot: DUOX2_HUMAN, Q9NRD8
    Similarity: In the N-terminal section; belongs to the peroxidase family
    Similarity: Contains 3 EF-hand domains
    Similarity: Contains 1 FAD-binding FR-type domain
    Similarity: Contains 1 ferric oxidoreductase domain


    Find genes that share domains with DUOX2           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: DUOX2_HUMAN, Q9NRD8
    Function: Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and
    lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial
    defense at the surface of mucosa. May have its own peroxidase activity through its N-terminal peroxidase-like
    domain
    Catalytic activity: NAD(P)H + O(2) = NAD(P)(+) + H(2)O(2)
    Enzyme regulation: Peroxidase activity is inhibited by aminobenzohydrazide (By similarity). The NADPH oxidase
    activity is calcium-dependent
    Induction: By forskolin, thyrotropin and the Th1-specific cytokine IFNG/IFN-gamma

         Enzyme Numbers (IUBMB): EC 1.11.1.-1 EC 1.6.3.11

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004601peroxidase activity IEA--
    GO:0005509calcium ion binding IDA15972824
    GO:0016174NAD(P)H oxidase activity IDA15972824
    GO:0016491oxidoreductase activity ----
    GO:0020037heme binding IEA--
         
    Find genes that share ontologies with DUOX2           About GenesLikeMe


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Duox2):
     adipose tissue  endocrine/exocrine gland  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism 
     nervous system  reproductive system  skeleton 

    Find genes that share phenotypes with DUOX2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DUOX2
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    5 qRT-PCR Assays for microRNAs that regulate DUOX2:
    hsa-miR-512-5p hsa-miR-140-5p hsa-miR-661 hsa-miR-545 hsa-miR-1827
    SwitchGear 3'UTR luciferase reporter plasmidDUOX2 3' UTR sequence
    Inhib. RNA
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    eBioscience FlowRNA Probe Sets ( VA1-13558) for DUOX2 


    (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
    DUOX2_HUMAN, Q9NRD8: Apical cell membrane; Multi-pass membrane protein. Note=Localizes to the apical membrane of
    epithelial cells
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    mitochondrion2
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--
    GO:0016324apical plasma membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19199708

    Find genes that share ontologies with DUOX2           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 DUOX2 About    
    See pathways by source

    SuperPathContained pathways About
    1Insulin secretion
    Thyroid hormone synthesis0.36
    2Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways
    NOD pathway0.33


    Find genes that share SuperPaths with DUOX2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for DUOX2
        NOD pathway


    1 Kegg Pathway  (Kegg details for DUOX2):
        Thyroid hormone synthesis

    UniProtKB/Swiss-Prot: DUOX2_HUMAN, Q9NRD8
    Pathway: Hormone biosynthesis; thyroid hormone biosynthesis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DUOX2: 

              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for DUOX2

    2 Interacting proteins for DUOX2 (Q9NRD83) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NOD2Q9HC293I2D: score=1 
    TXNDC11Q6PKC33I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006590thyroid hormone generation IEA--
    GO:0006979response to oxidative stress ----
    GO:0009566fertilization IEA--
    GO:0009615response to virus IDA16111680
    GO:0019221cytokine-mediated signaling pathway ISS--

    Find genes that share ontologies with DUOX2           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 DUOX2

    5 HMDB Compounds for DUOX2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Hydrogen peroxideHydrogen peroxide (see all 44)7722-84-1--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    9 Novoseek inferred chemical compound relationships for DUOX2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iodide 78.4 17 16322276 (2), 16987011 (2), 16134168 (1), 17077129 (1) (see all 7)
    perchlorate 74.7 2 16322276 (1)
    nadph 73.9 11 16111680 (2), 17684392 (1), 18281478 (1), 19358684 (1) (see all 8)
    sodium iodide 70.8 4 15863666 (1), 18322142 (1), 17121535 (1)
    h2o2 62 16 15591162 (2), 17374849 (2), 12824283 (2), 15150274 (2) (see all 9)
    iodine 54.3 5 18426362 (2), 16134168 (1), 18230830 (1)
    superoxide 42.4 2 16987008 (1)
    oxygen 32 1 18281478 (1)
    sodium 3.95 3 16613988 (1), 17077129 (1)



    Find genes that share compounds with DUOX2           About GenesLikeMe



    (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 DUOX2 gene: 
    NM_014080.4  

    Unigene Cluster for DUOX2:

    Dual oxidase 2
    Hs.71377  [show with all ESTs]
    Unigene Representative Sequence: AB209010
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000389039(uc010bea.3 uc001zun.3) ENST00000558383 ENST00000560797
    ENST00000558416 ENST00000603300
    miRNA
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    hsa-miR-512-5p hsa-miR-140-5p hsa-miR-661 hsa-miR-545 hsa-miR-1827
    SwitchGear 3'UTR luciferase reporter plasmidDUOX2 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB209010.1 AF181972.1 AF230496.1 AF267981.1 

    5 DOTS entries:

    DT.421214  DT.121016786  DT.95228996  DT.91764196  DT.95109547 

    Selected AceView cDNA sequences (see all 41):

    NM_014080 AF230496 BX282381 AF181972 AA687426 AA344113 AW752673 AW204802 
    AW341978 AF267981 AW170493 AL602956 BI755312 BV197737 W60005 CD625160 
    AA480160 AA687477 BI059963 BI045475 AW843536 AW843489 CD625163 W52607 

    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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    DUOX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTTGTGTG
    DUOX2 Expression
    About this image

    DUOX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DUOX2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.71377

    UniProtKB/Swiss-Prot: DUOX2_HUMAN, Q9NRD8
    Tissue specificity: Expressed in colon, small intestine, duodenum and tracheal surface epithelial cells (at
    protein level). Expressed in thyrocytes. Also detected in kidney, liver, lung, pancreas, prostate, salivary
    glands, rectum and testis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DUOX2: 
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DUOX2

    (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 eukaryotes.

    Orthologs for DUOX2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Duox21 , 5 dual oxidase 21, 5 84.93(n)1
    85.56(a)1
      2 (60.61 cM)5
    2145931  NM_177610.21  NP_808278.21 
     1222792475 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    66(a)
    1 → many
    10(548659-565615)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    56(a)
    1 → many
    GL343490.1(251761-310969)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia duox21 dual oxidase 2 58.52(n)
    58.72(a)
      100486050  XM_002937889.2  XP_002937935.1 
    zebrafish
    (Danio rerio)
    Actinopterygii duox6
    dual oxidase
    55(a)
    1 → many
    25(32936631-32997395) ENSDARG00000062632
    fruit fly
    (Drosophila melanogaster)
    Insecta CG31313
    Duox1
    superoxide-generating NADPH oxidase3
    Dual oxidase1
    38(a)3
    51.58(n)1
    39.93(a)1
      23B23
    334771  NM_001273039.11  NP_001259968.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F56C11.13
    duox-21
    duox-21 34(a)
    (best of 2)3
    46.07(n)1
    37.53(a)1
      I(146623-154819)3
    1861881  NM_058283.11  NP_490684.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RBOHB1 RBOHB 45.34(n)
    33.6(a)
      837430  NM_202070.1  NP_973799.1 


    ENSEMBL Gene Tree for DUOX2 (if available)
    TreeFam Gene Tree for DUOX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DUOX2 gene
    CYBB2  NOX12  NOX32  NOX42  DUOX12  NOX52  
    2 SIMAP similar genes for DUOX2 using alignment to 12 protein entries:     DUOX2_HUMAN (see all proteins):
    DUOX1    NOX3

    Find genes that share paralogs with DUOX2           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 DUOX2 (see all 842)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0253234
    Thyroid dyshormonogenesis 6 (TDH6)4--see VAR_0253232 Q H mis40--------
    VAR_0646194
    Thyroid dyshormonogenesis 6 (TDH6)4--see VAR_0646192 G S mis40--------
    VAR_0253254
    Thyroid dyshormonogenesis 6 (TDH6)4--see VAR_0253252 R W mis40--------
    rs1194720281,2
    Cpathogenic125463018(-) CCTTCC/TGAGAG 2 R * stg10--------
    rs1194720291,2
    Cpathogenic125468736(-) GGATTC/TGGGAG 2 R W mis11Minor allele frequency- T:0.00NA 4544
    rs11080851,2
    C,F,O,A,H--25451000(+) GCACTT/CACTAA 1 -- ds500115Minor allele frequency- C:0.19NS EA NA WA CSA 918
    rs788745011,2
    C,F--25451024(+) GGAGGA/GCTGCA 1 -- ds50012Minor allele frequency- G:0.02WA EA 238
    rs769044611,2
    C,F--25451026(+) AGGACT/CGCAGG 1 -- ds50012Minor allele frequency- C:0.03WA EA 238
    rs800679231,2
    C,F--25451207(+) AGGGAT/CTTCCC 1 -- ds50011Minor allele frequency- C:0.13WA 118
    rs71801061,2
    C,F,A,H--25451309(+) CAACAG/TAGGGG 1 -- ds500118Minor allele frequency- T:0.28NS EA NA WA CSA 1876

    HapMap Linkage Disequilibrium report for DUOX2 (45384848 - 45406542 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for DUOX2:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv2378n71CNV Loss21882294
    nsv9262CNV Gain18304495
    dgv744e1CNV Complex17122850
    nsv7264OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): DUOX2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DUOX2
    DNA2.0 Custom Variant and Variant Library Synthesis for DUOX2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606759   
    OMIM disorders: 607200  
    UniProtKB/Swiss-Prot: DUOX2_HUMAN, Q9NRD8
  • Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200]: A disorder due to a defective conversion of accumulated
    iodide to organically bound iodine. The iodide organification defect can be partial or complete. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 12 diseases for DUOX2:    
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    transient congenital hypothyroidism    genetic transient congenital hypothyroidism    congenital hypothyroidism, duox2-related    thryoid dyshormonogenesis 6
    chronic endophthalmitis    rapsn-related congenital myasthenic syndrome    pendred syndrome    endophthalmitis
    congenital hypothyroidism    hepatopulmonary syndrome    hypothyroidism    follicular thyroid carcinoma

    3 diseases from the University of Copenhagen DISEASES database for DUOX2:
    Hypothyroidism     Chronic granulomatous disease     Vascular disease

    Find genes that share disorders with DUOX2           About GenesLikeMe

    6 Novoseek inferred disease relationships for DUOX2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital hypothyroidism 86.7 28 18765513 (5), 17440044 (2), 20187165 (2), 16134168 (1) (see all 11)
    pendred syndrome 68.2 2 16584511 (1), 15863666 (1)
    hypothyroidism 55.6 6 16134168 (2), 17684392 (2), 18765513 (1), 20407074 (1)
    adenoma 34.1 1 17160516 (1)
    tumors 0 3 19714290 (1), 11762710 (1)
    carcinoma 0 1 11762710 (1)

    Genetic Association Database (GAD): DUOX2
    Human Genome Epidemiology (HuGE) Navigator: DUOX2 (10 documents)

    Export disorders for DUOX2 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 DUOX2 gene, integrated from 10 sources (see all 91):
    (articles sorted by number of sources associating them with DUOX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Purification of a novel flavoprotein involved in the thyroid NADPH oxidase. Cloning of the porcine and human cDNAs. (PubMed id 10601291)1, 2, 3, 9 Dupuy C.... Virion A. (J. Biol. Chem. 1999)
    2. Cloning of two human thyroid cDNAs encoding new members of the NADPH oxidase family. (PubMed id 10806195)1, 2, 3 De Deken X.... Miot F. (J. Biol. Chem. 2000)
    3. Dual oxidase2 is expressed all along the digestive tract. (PubMed id 15591162)1, 2, 9 Ameziane-El-Hassani R.... Dupuy C. (Am. J. Physiol. 2005)
    4. Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings. (PubMed id 16134168)1, 2, 9 Vigone M.C.... Weber G. (Hum. Mutat. 2005)
    5. Dual oxidases represent novel hydrogen peroxide sources supporting mucosal surface host defense. (PubMed id 12824283)1, 2, 9 Geiszt M.... Leto T.L. (FASEB J. 2003)
    6. Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A-->C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect. (PubMed id 16322276)1, 2, 9 Varela V.... Targovnik H.M. (Clin. Chem. 2006)
    7. Characterization of ThOX proteins as components of the thyroid H(2)O(2)-generating system. (PubMed id 11822874)1, 2, 9 De Deken X.... Miot F. (Exp. Cell Res. 2002)
    8. Dual oxidase-2 has an intrinsic Ca2+-dependent H2O2-generating activity. (PubMed id 15972824)1, 2, 9 Ameziane-El-Hassani R.... Dupuy C. (J. Biol. Chem. 2005)
    9. Genetic polymorphisms and susceptibility to lung disease. (PubMed id 16608528)1, 4, 9 Lee P.L....Wang L. (J Negat Results Biomed 2006)
    10. Genetic risk factors for hepatopulmonary syndrome in patients with advanced liver disease. (PubMed id 20346360)1, 4 Roberts K.E....Fallon M.B. (Gastroenterology 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 50506 HGNC: 13273 AceView: DUOX2 Ensembl:ENSG00000140279 euGenes: HUgn50506
    ECgene: DUOX2 Kegg: 50506 H-InvDB: DUOX2

    (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 DUOX2 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 DUOX2 gene:
    Search GeneIP for patents involving DUOX2

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



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