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Aliases for DUOX2 Gene

Aliases for DUOX2 Gene

  • Dual Oxidase 2 2 3 5
  • NADH/NADPH Thyroid Oxidase P138-Tox 2 3 4
  • NADPH Oxidase/Peroxidase DUOX2 2 3 4
  • NADPH Thyroid Oxidase 2 2 3 4
  • Nicotinamide Adenine Dinucleotide Phosphate Oxidase 2 3
  • Dual Oxidase-Like Domains 2 2 3
  • Flavoprotein NADPH Oxidase 2 3
  • P138 Thyroid Oxidase 3 4
  • Thyroid Oxidase 2 3 4
  • Large NOX 2 3 4
  • Long NOX 2 3 4
  • LNOX2 3 4
  • THOX2 3 4
  • EC 1.11.1.- 4
  • EC 1.6.3.1 4
  • P138-TOX 3
  • NOXEF2 3
  • TDH6 3

External Ids for DUOX2 Gene

Previous GeneCards Identifiers for DUOX2 Gene

  • GC15M040943
  • GC15M038431
  • GC15M042963
  • GC15M043100
  • GC15M043172
  • GC15M045384
  • GC15M022209

Summaries for DUOX2 Gene

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 Thryoid Dyshormonogenesis 6 and Genetic Transient Congenital Hypothyroidism. Among its related pathways are Metabolism and Amine-derived hormones. GO annotations related to this gene include calcium ion binding and heme binding. An important paralog of this gene is DUOX1.

UniProtKB/Swiss-Prot for DUOX2 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DUOX2 Gene

Genomics for DUOX2 Gene

Regulatory Elements for DUOX2 Gene

Enhancers for DUOX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F045310 0.2 ENCODE 7.6 -196.4 -196417 0.7 SOX13 HLF PPARG TEAD3 ZNF121 GATA4 TCF7 SMAD4 NR2F6 BCL6 SLC28A2 DUOX1 DUOXA1 DUOX2 ENSG00000235390 LOC101928414
GH15F045298 0.2 ENCODE 6.6 -185.0 -184975 1.2 ELF3 THRB RARA CREM MIXL1 THAP11 HMG20B SP5 MIER2 PPARG LOC100533853 SLC28A2 DUOX1 DUOXA1 DUOX2 LOC101928414 ENSG00000235390
GH15F045197 1.2 ENCODE 6.2 -85.6 -85582 4.3 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 CTDSPL2 EIF3J-AS1 HNRNPMP1 ENSG00000259563 DUOX1 ENSG00000259539 BLOC1S6 SLC28A2 LOC101928414 DUOX2
GH15F045375 0.2 ENCODE 5.9 -263.5 -263456 3.8 TBP TBL1XR1 WRNIP1 SIN3A RAD21 ZBTB40 YY1 ZNF143 FOS ZNF263 LOC100533853 SPATA5L1 ENSG00000259539 DUOX2 ENSG00000275672 GC15P045361 GC15P045362
GH15F045400 0.6 ENCODE 5.6 -288.4 -288360 3.4 PKNOX1 MLX WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 SPATA5L1 CTDSPL2 C15orf48 EIF3J-AS1 HNRNPMP1 BLOC1S6 MIR147B RNU7-5P SQRDL DUOX2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DUOX2 on UCSC Golden Path with GeneCards custom track

Genomic Location for DUOX2 Gene

Chromosome:
15
Start:
45,092,650 bp from pter
End:
45,114,344 bp from pter
Size:
21,695 bases
Orientation:
Minus strand

Genomic View for DUOX2 Gene

Genes around DUOX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DUOX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DUOX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DUOX2 Gene

Proteins for DUOX2 Gene

  • Protein details for DUOX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NRD8-DUOX2_HUMAN
    Recommended name:
    Dual oxidase 2
    Protein Accession:
    Q9NRD8
    Secondary Accessions:
    • A8MQ13
    • D2XI64
    • Q9NR02
    • Q9UHF9

    Protein attributes for DUOX2 Gene

    Size:
    1548 amino acids
    Molecular mass:
    175364 Da
    Quaternary structure:
    • Interacts with TXNDC11, TPO and CYBA.

neXtProt entry for DUOX2 Gene

Post-translational modifications for DUOX2 Gene

Other Protein References for DUOX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for DUOX2
  • Santa Cruz Biotechnology (SCBT) Antibodies for DUOX2

No data available for DME Specific Peptides for DUOX2 Gene

Domains & Families for DUOX2 Gene

Gene Families for DUOX2 Gene

Suggested Antigen Peptide Sequences for DUOX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NRD8

UniProtKB/Swiss-Prot:

DUOX2_HUMAN :
  • Contains 3 EF-hand domains.
  • In the N-terminal section; belongs to the peroxidase family.
Domain:
  • Contains 3 EF-hand domains.
  • Contains 1 FAD-binding FR-type domain.
  • Contains 1 ferric oxidoreductase domain.
Family:
  • In the N-terminal section; belongs to the peroxidase family.
genes like me logo Genes that share domains with DUOX2: view

Function for DUOX2 Gene

Molecular function for DUOX2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
NAD(P)H + O(2) = NAD(P)(+) + H(2)O(2).
UniProtKB/Swiss-Prot EnzymeRegulation:
Peroxidase activity is inhibited by aminobenzohydrazide (By similarity). The NADPH oxidase activity is calcium-dependent.
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By forskolin, thyrotropin and the Th1-specific cytokine IFNG/IFN-gamma.

Enzyme Numbers (IUBMB) for DUOX2 Gene

Gene Ontology (GO) - Molecular Function for DUOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004601 peroxidase activity IEA --
GO:0005509 calcium ion binding IDA 15972824
GO:0016174 NAD(P)H oxidase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with DUOX2: view
genes like me logo Genes that share phenotypes with DUOX2: view

Human Phenotype Ontology for DUOX2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for DUOX2 Gene

Localization for DUOX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DUOX2 Gene

Apical cell membrane; Multi-pass membrane protein. Cell junction. Note=Localizes to the apical membrane of epithelial cells. Localizes on internal membrane structures under resting conditions, translocates to the plasma membrane and cell-cell junctions upon challenge with enteric pathogens, such as Escherichia coli. {ECO:0000269 PubMed:26301257}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DUOX2 Gene COMPARTMENTS Subcellular localization image for DUOX2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
endoplasmic reticulum 2
mitochondrion 2
cytosol 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DUOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with DUOX2: view

Pathways & Interactions for DUOX2 Gene

genes like me logo Genes that share pathways with DUOX2: view

Pathways by source for DUOX2 Gene

1 BioSystems pathway for DUOX2 Gene
1 KEGG pathway for DUOX2 Gene

UniProtKB/Swiss-Prot Q9NRD8-DUOX2_HUMAN

  • Pathway: Hormone biosynthesis; thyroid hormone biosynthesis.

Gene Ontology (GO) - Biological Process for DUOX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006590 thyroid hormone generation TAS --
GO:0006979 response to oxidative stress IEA --
GO:0009566 fertilization IEA --
GO:0009615 response to virus IDA 16111680
GO:0019221 cytokine-mediated signaling pathway ISS --
genes like me logo Genes that share ontologies with DUOX2: view

No data available for SIGNOR curated interactions for DUOX2 Gene

Drugs & Compounds for DUOX2 Gene

(6) Drugs for DUOX2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
FAD Approved Pharma 0
Hydrogen peroxide Pharma 55
NAD Pharma Full agonist, Agonist 0
calcium Nutra 0

(7) Additional Compounds for DUOX2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
53-57-6
genes like me logo Genes that share compounds with DUOX2: view

Transcripts for DUOX2 Gene

Unigene Clusters for DUOX2 Gene

Dual oxidase 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DUOX2 Gene

No ASD Table

Relevant External Links for DUOX2 Gene

GeneLoc Exon Structure for
DUOX2
ECgene alternative splicing isoforms for
DUOX2

Expression for DUOX2 Gene

mRNA expression in normal human tissues for DUOX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DUOX2 Gene

This gene is overexpressed in Thyroid (x13.3), Stomach (x8.3), Esophagus - Mucosa (x5.8), and Vagina (x4.6).

Protein differential expression in normal tissues from HIPED for DUOX2 Gene

This gene is overexpressed in Islet of Langerhans (47.3) and Nasal epithelium (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DUOX2 Gene



NURSA nuclear receptor signaling pathways regulating expression of DUOX2 Gene:

DUOX2

SOURCE GeneReport for Unigene cluster for DUOX2 Gene:

Hs.71377

mRNA Expression by UniProt/SwissProt for DUOX2 Gene:

Q9NRD8-DUOX2_HUMAN
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.
genes like me logo Genes that share expression patterns with DUOX2: view

Primer Products

No data available for Protein tissue co-expression partners for DUOX2 Gene

Orthologs for DUOX2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DUOX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DUOX2 34 35
  • 99.42 (n)
cow
(Bos Taurus)
Mammalia DUOX2 34 35
  • 87.62 (n)
dog
(Canis familiaris)
Mammalia DUOX2 34 35
  • 87.56 (n)
mouse
(Mus musculus)
Mammalia Duox2 34 16 35
  • 84.93 (n)
rat
(Rattus norvegicus)
Mammalia Duox2 34
  • 84.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 78 (a)
ManyToMany
-- 35
  • 77 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia DUOX2 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 66 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 56 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia duox2 34
  • 58.52 (n)
zebrafish
(Danio rerio)
Actinopterygii duox 35
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Duox 34 35
  • 51.58 (n)
CG3131 36
  • 38 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta DUOX 34
  • 50.05 (n)
worm
(Caenorhabditis elegans)
Secernentea duox-2 34 35
  • 46.07 (n)
bli-3 35
  • 36 (a)
ManyToMany
F53G12.3 36
  • 34 (a)
F56C11.1 36
  • 34 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons RBOHB 34
  • 45.34 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14073 34
Species where no ortholog for DUOX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DUOX2 Gene

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

Paralogs for DUOX2 Gene

Paralogs for DUOX2 Gene

genes like me logo Genes that share paralogs with DUOX2: view

Variants for DUOX2 Gene

Sequence variations from dbSNP and Humsavar for DUOX2 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs119472029 Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200], Pathogenic 45,109,895(-) GGATT(C/T)GGGAG reference, missense
rs368512412 Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200] 45,094,245(+) AGGGC(C/T)GCAGC reference, missense
VAR_025323 Thyroid dyshormonogenesis 6 (TDH6) [MIM:607200]
rs119472026 Pathogenic 45,108,887(-) GTGGC(C/T)GAGAT reference, stop-gained
rs119472027 Pathogenic 45,106,217(-) TGGTC(C/T)AGCTG reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for DUOX2 Gene

Variant ID Type Subtype PubMed ID
esv2760029 CNV gain+loss 17122850
esv3636333 CNV loss 21293372
nsv569312 CNV loss 21841781
nsv7264 OTHER inversion 18451855
nsv9262 CNV gain 18304495

Variation tolerance for DUOX2 Gene

Residual Variation Intolerance Score: 99.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.60; 78.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DUOX2 Gene

Human Gene Mutation Database (HGMD)
DUOX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DUOX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DUOX2 Gene

Disorders for DUOX2 Gene

MalaCards: The human disease database

(14) MalaCards diseases for DUOX2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thryoid dyshormonogenesis 6
  • thyroid dyshormonogenesis 6
genetic transient congenital hypothyroidism
familial thyroid dyshormonogenesis
  • thyroid dyshormonogenesis
congenital hypothyroidism, duox2-related
  • congenital hypothyroidism due to dyshormonogenesis 6
congenital hypothyroidism
  • cretinism
- elite association - COSMIC cancer census association via MalaCards
Search DUOX2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DUOX2_HUMAN
  • Note=Defects in DUOX2 may play a role in the pathogenesis of very early onset inflammatory bowel disease (VEOIBD), a chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology diagnosed before 6 years of age. VEOIBD is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but the phenotype of children with onset of Crohn disease occurring younger than the age of 10 is predominantly colonic, with a lower risk of ileal disease. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. {ECO:0000269 PubMed:26301257}.
  • 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. {ECO:0000269 PubMed:12110737, ECO:0000269 PubMed:16134168, ECO:0000269 PubMed:16322276, ECO:0000269 PubMed:20187165}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DUOX2

Genetic Association Database (GAD)
DUOX2
Human Genome Epidemiology (HuGE) Navigator
DUOX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DUOX2
genes like me logo Genes that share disorders with DUOX2: view

No data available for Genatlas for DUOX2 Gene

Publications for DUOX2 Gene

  1. Purification of a novel flavoprotein involved in the thyroid NADPH oxidase. Cloning of the porcine and human cDNAs. (PMID: 10601291) Dupuy C. … Virion A. (J. Biol. Chem. 1999) 2 3 4 22 64
  2. 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. (PMID: 16322276) Varela V. … Targovnik H.M. (Clin. Chem. 2006) 3 4 22 64
  3. Genetic polymorphisms and susceptibility to lung disease. (PMID: 16608528) Lee P.L. … Wang L. (J Negat Results Biomed 2006) 3 22 46 64
  4. Dual oxidase2 is expressed all along the digestive tract. (PMID: 15591162) Ameziane-El-Hassani R. … Dupuy C. (Am. J. Physiol. 2005) 3 4 22 64
  5. Dual oxidase-2 has an intrinsic Ca2+-dependent H2O2-generating activity. (PMID: 15972824) Ameziane-El-Hassani R. … Dupuy C. (J. Biol. Chem. 2005) 3 4 22 64

Products for DUOX2 Gene

Sources for DUOX2 Gene

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