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Aliases for DUOX2 Gene

Aliases for DUOX2 Gene

  • Dual Oxidase 2 2 3 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 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 Thyroid Dyshormonogenesis 6 and Genetic Transient Congenital Hypothyroidism. Among its related pathways are Metabolism and Amine-derived hormones. Gene Ontology (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

Additional gene information for DUOX2 Gene

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

Genomics for DUOX2 Gene

GeneHancer (GH) Regulatory Elements for DUOX2 Gene

Promoters and enhancers for DUOX2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J045130 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 650.4 -16.2 -16164 1.3 ATF2 ZFX EZH2 DUOX1 DUOXA1 PIR49799 DUOX2 ENSG00000259539
GH15J045114 Promoter 0.7 EPDnew 650.7 +0.0 37 0.1 SUZ12 EZH2 DUOX2 DUOXA2 ENSG00000259352
GH15J045115 Promoter 0.7 EPDnew 650.7 -0.3 -282 0.1 SUZ12 EZH2 DUOX2 DUOXA2 PIR34094
GH15J045116 Promoter 0.7 EPDnew 650.7 +0.2 152 0.1 SUZ12 EZH2 DUOX2 DUOXA2 ENSG00000259352
GH15J045375 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 5.9 -263.5 -263455 3.8 RB1 RAD21 YY1 ZNF207 ZNF143 FOS IKZF2 RUNX3 SMAD5 USF2 ENSG00000275672 GATM LOC100533853 SPATA5L1 ENSG00000259539 DUOX2 GC15P045361 GC15P045362
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DUOX2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DUOX2 gene promoter:
  • AP-1
  • C/EBPalpha
  • p53
  • IRF-1
  • ER-alpha
  • GR
  • GR-alpha
  • GR-beta
  • HOXA3
  • HEN1

Genomic Locations for DUOX2 Gene

Genomic Locations for DUOX2 Gene
21,695 bases
Minus strand
21,695 bases
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:
    Recommended name:
    Dual oxidase 2
    Protein Accession:
    Secondary Accessions:
    • A8MQ13
    • D2XI64
    • Q9NR02
    • Q9UHF9

    Protein attributes for DUOX2 Gene

    1548 amino acids
    Molecular mass:
    175364 Da
    Quaternary structure:
    • Heterodimer with DUOXA2; disulfide-linked. Interacts with TXNDC11, TPO and CYBA.

neXtProt entry for DUOX2 Gene

Post-translational modifications for DUOX2 Gene

  • N-glycosylated.
  • Glycosylation at posLast=537537, Asn455, Asn382, Asn348, and posLast=100100
  • Modification sites at PhosphoSitePlus

Other Protein References for DUOX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DUOX2 Gene

Domains & Families for DUOX2 Gene

Gene Families for DUOX2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Suggested Antigen Peptide Sequences for DUOX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • In the N-terminal section; belongs to the peroxidase 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 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 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 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

Clone Products

No data available for Phenotypes From GWAS Catalog , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DUOX2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 2
endoplasmic reticulum 2
nucleus 1
cytosol 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DUOX2 Gene

Pathways & Interactions for DUOX2 Gene

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

Pathways by source 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

(9) 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 Approved, Vet_approved Pharma 73
calcium Approved Nutra 0
NAD Pharma Full agonist, Agonist, Activator 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 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
genes like me logo Genes that share compounds with DUOX2: view

Transcripts for DUOX2 Gene

mRNA/cDNA for DUOX2 Gene

Unigene Clusters for DUOX2 Gene

Dual oxidase 2:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for DUOX2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DUOX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for DUOX2 Gene

NURSA nuclear receptor signaling pathways regulating expression of DUOX2 Gene:


SOURCE GeneReport for Unigene cluster for DUOX2 Gene:


mRNA Expression by UniProt/SwissProt for DUOX2 Gene:

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.

Evidence on tissue expression from TISSUES for DUOX2 Gene

  • Thyroid gland(4.6)
  • Skin(4.5)
  • Pancreas(4.1)
  • Nervous system(2.5)
  • Blood(2.4)
  • Gall bladder(2.3)
  • Heart(2.3)
  • Intestine(2.3)
  • Muscle(2.2)
  • Kidney(2.1)
  • Lung(2.1)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DUOX2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • breast
  • heart
  • lung
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
  • ovary
  • rectum
  • urinary bladder
  • uterus
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with DUOX2: view

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
(Pan troglodytes)
Mammalia DUOX2 34 33
  • 99.42 (n)
(Bos Taurus)
Mammalia DUOX2 34 33
  • 87.62 (n)
(Canis familiaris)
Mammalia DUOX2 34 33
  • 87.56 (n)
(Mus musculus)
Mammalia Duox2 16 34 33
  • 84.93 (n)
(Rattus norvegicus)
Mammalia Duox2 33
  • 84.38 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 78 (a)
-- 34
  • 77 (a)
(Monodelphis domestica)
Mammalia DUOX2 34
  • 75 (a)
(Gallus gallus)
Aves -- 34
  • 66 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia duox2 33
  • 58.52 (n)
(Danio rerio)
Actinopterygii duox 34
  • 55 (a)
fruit fly
(Drosophila melanogaster)
Insecta Duox 34 33
  • 51.58 (n)
CG3131 35
  • 38 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta DUOX 33
  • 50.05 (n)
(Caenorhabditis elegans)
Secernentea duox-2 34 33
  • 46.07 (n)
bli-3 34
  • 36 (a)
F53G12.3 35
  • 34 (a)
F56C11.1 35
  • 34 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons RBOHB 33
  • 45.34 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
Cin.14073 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14073 33
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

Gene Tree for DUOX2 (if available)
Gene Tree for DUOX2 (if available)
Evolutionary constrained regions (ECRs) for DUOX2: view image

Paralogs for DUOX2 Gene

Paralogs for DUOX2 Gene

(2) SIMAP similar genes for DUOX2 Gene using alignment to 12 proteins:

  • D2XI64_HUMAN
  • S6B486_HUMAN
  • S6B490_HUMAN
  • S6BJ80_HUMAN
  • S6BJ83_HUMAN
  • S6BQ37_HUMAN
  • S6BQ40_HUMAN
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 Variation AA Info Type
rs1005089566 uncertain-significance, Congenital hypothyroidism 45,112,677(-) C/A/T coding_sequence_variant, missense_variant
rs1041986783 uncertain-significance, Congenital hypothyroidism 45,092,793(-) T/C 3_prime_UTR_variant
rs10851420 likely-benign, Congenital hypothyroidism 45,093,718(-) C/T 3_prime_UTR_variant
rs112353868 likely-benign, Congenital hypothyroidism 45,114,000(-) G/C 5_prime_UTR_variant
rs113400262 benign, likely-benign, not specified, Congenital hypothyroidism 45,106,171(-) C/A/T coding_sequence_variant, missense_variant

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)

Additional Variant Information for DUOX2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DUOX2 Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search DUOX2 in MalaCards View complete list of genes associated with diseases


  • 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.
  • 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}.

Additional Disease Information for DUOX2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Journal of biological chemistry 1999) 2 3 4 22 58
  2. Genetic polymorphisms and susceptibility to lung disease. (PMID: 16608528) Lee PL … Wang L (Journal of negative results in biomedicine 2006) 3 22 44 58
  3. 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 HM (Clinical chemistry 2006) 3 4 22 58
  4. Dual oxidase2 is expressed all along the digestive tract. (PMID: 15591162) El Hassani RA … Dupuy C (American journal of physiology. Gastrointestinal and liver physiology 2005) 3 4 22 58
  5. Dual oxidase-2 has an intrinsic Ca2+-dependent H2O2-generating activity. (PMID: 15972824) Ameziane-El-Hassani R … Dupuy C (The Journal of biological chemistry 2005) 3 4 22 58

Products for DUOX2 Gene

Sources for DUOX2 Gene

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