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Aliases for DUOXA2 Gene

Aliases for DUOXA2 Gene

  • Dual Oxidase Maturation Factor 2 2 3 5
  • Dual Oxidase Activator 2 4
  • TDH5 3

External Ids for DUOXA2 Gene

Previous GeneCards Identifiers for DUOXA2 Gene

  • GC15P043194
  • GC15P045406
  • GC15P022230

Summaries for DUOXA2 Gene

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 Familial Thyroid Dyshormonogenesis. Among its related pathways are Aldosterone synthesis and secretion. An important paralog of this gene is DUOXA1.

UniProtKB/Swiss-Prot for DUOXA2 Gene

  • 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.

Additional gene information for DUOXA2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DUOXA2 Gene

Genomics for DUOXA2 Gene

GeneHancer (GH) Regulatory Elements for DUOXA2 Gene

Promoters and enhancers for DUOXA2 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
GH15I045114 Promoter 0.7 EPDnew 550.8 0.0 -14 0.1 SUZ12 EZH2 DUOX2 DUOXA2 ENSG00000259352
GH15I045115 Promoter 0.7 EPDnew 550.8 -0.1 -129 0.1 SUZ12 EZH2 DUOX2 DUOXA2 ENSG00000259352
GH15I045133 Enhancer 0.6 dbSUPER 12 +20.8 20773 3.4 CTCF ZNF687 USF1 NFIB NR2F1 DPF2 RAD21 NFIC ZNF207 NFE2 GC15P045136 GC15P045137 GC15P045138 GC15P045139 GC15P045140 GC15P045141 GC15P045142 GC15P045143 PIR61454 DUOX1
GH15I045160 Enhancer 0.3 dbSUPER 10.9 +46.4 46364 1.3 POLR2A DUOXA1 ENSG00000259539 SHF DUOX1 DUOX2 DUOXA2 SLC28A2 LOC101928414 GC15P045136 GC15P045137
GH15I045122 Enhancer 0.4 ENCODE 6.9 +8.0 7970 0.1 FOSL1 FOSL2 FOS PIR34094 DUOXA2 PIR50334 DUOXA1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DUOXA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DUOXA2 gene promoter:

Genomic Locations for DUOXA2 Gene

Genomic Locations for DUOXA2 Gene
4,101 bases
Plus strand

Genomic View for DUOXA2 Gene

Genes around DUOXA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DUOXA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DUOXA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DUOXA2 Gene

Proteins for DUOXA2 Gene

  • Protein details for DUOXA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Dual oxidase maturation factor 2
    Protein Accession:
    Secondary Accessions:
    • B2RPI9
    • H0YNQ6

    Protein attributes for DUOXA2 Gene

    320 amino acids
    Molecular mass:
    34787 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DUOXA2 Gene


neXtProt entry for DUOXA2 Gene

Post-translational modifications for DUOXA2 Gene

Other Protein References for DUOXA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DUOXA2 Gene

Domains & Families for DUOXA2 Gene

Gene Families for DUOXA2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for DUOXA2 Gene

Suggested Antigen Peptide Sequences for DUOXA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the DUOXA family.
  • Belongs to the DUOXA family.
genes like me logo Genes that share domains with DUOXA2: view

Function for DUOXA2 Gene

Molecular function for DUOXA2 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with DUOXA2: view

Human Phenotype Ontology for DUOXA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DUOXA2 Gene

MGI Knock Outs for DUOXA2:

Animal Model Products

  • Taconic Biosciences Mouse Models for DUOXA2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for DUOXA2 Gene

Localization for DUOXA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DUOXA2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

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 DUOXA2 gene
Compartment Confidence
plasma membrane 4
endoplasmic reticulum 4

Gene Ontology (GO) - Cellular Components for DUOXA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IBA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DUOXA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DUOXA2 Gene

Pathways & Interactions for DUOXA2 Gene

SuperPathways for DUOXA2 Gene

SuperPathway Contained pathways
1 Aldosterone synthesis and secretion
genes like me logo Genes that share pathways with DUOXA2: view

Pathways by source for DUOXA2 Gene

1 KEGG pathway for DUOXA2 Gene

Interacting Proteins for DUOXA2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: Q1HG44-DOXA2_HUMAN ENSP00000319705 for DUOXA2 Gene via IID STRING

Gene Ontology (GO) - Biological Process for DUOXA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0042743 hydrogen peroxide metabolic process IEA --
GO:0050727 regulation of inflammatory response IEA --
GO:2000609 regulation of thyroid hormone generation IEA --
genes like me logo Genes that share ontologies with DUOXA2: view

No data available for SIGNOR curated interactions for DUOXA2 Gene

Drugs & Compounds for DUOXA2 Gene

No Compound Related Data Available

Transcripts for DUOXA2 Gene

mRNA/cDNA for DUOXA2 Gene

Unigene Clusters for DUOXA2 Gene

Dual oxidase maturation factor 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DUOXA2 Gene

No ASD Table

Relevant External Links for DUOXA2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DUOXA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DUOXA2 Gene

mRNA differential expression in normal tissues according to GTEx for DUOXA2 Gene

This gene is overexpressed in Stomach (x16.2), Thyroid (x8.3), Esophagus - Mucosa (x6.3), and Vagina (x5.6).

Protein differential expression in normal tissues from HIPED for DUOXA2 Gene

This gene is overexpressed in Islet of Langerhans (39.9), Stomach (11.2), Liver (9.2), and Synovial fluid (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DUOXA2 Gene

Protein tissue co-expression partners for DUOXA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DUOXA2 Gene:


SOURCE GeneReport for Unigene cluster for DUOXA2 Gene:


mRNA Expression by UniProt/SwissProt for DUOXA2 Gene:

Tissue specificity: Specifically expressed in thyroid. Also detected in salivary glands.

Evidence on tissue expression from TISSUES for DUOXA2 Gene

  • Thyroid gland(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DUOXA2 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 DUOXA2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for DUOXA2 Gene

Orthologs for DUOXA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DUOXA2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DUOXA2 33 34
  • 99.27 (n)
(Canis familiaris)
Mammalia DUOXA2 33 34
  • 84.54 (n)
(Bos Taurus)
Mammalia DUOXA2 33 34
  • 82.03 (n)
(Mus musculus)
Mammalia Duoxa2 33 16 34
  • 81.39 (n)
(Rattus norvegicus)
Mammalia Duoxa2 33
  • 80.02 (n)
(Ornithorhynchus anatinus)
Mammalia DUOXA2 34
  • 70 (a)
(Monodelphis domestica)
Mammalia DUOXA2 34
  • 67 (a)
(Gallus gallus)
Aves DUOXA1L 33
  • 58.36 (n)
-- 34
  • 44 (a)
-- 34
  • 42 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 50 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733132 33
  • 51.57 (n)
(Danio rerio)
Actinopterygii LOC100330288 33
  • 57.31 (n)
  • 44 (a)
fruit fly
(Drosophila melanogaster)
Insecta mol 34
  • 19 (a)
(Caenorhabditis elegans)
Secernentea doxa-1 34
  • 21 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
CSA.1230 34
  • 17 (a)
Species where no ortholog for DUOXA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DUOXA2 Gene

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

Paralogs for DUOXA2 Gene

Paralogs for DUOXA2 Gene

(1) SIMAP similar genes for DUOXA2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DUOXA2: view

Variants for DUOXA2 Gene

Sequence variations from dbSNP and Humsavar for DUOXA2 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1005089566 uncertain-significance, Congenital hypothyroidism 45,112,677(+) C/A/T upstream_transcript_variant
rs112353868 likely-benign, Congenital hypothyroidism 45,114,000(+) G/C upstream_transcript_variant
rs138005153 uncertain-significance, Congenital hypothyroidism 45,113,327(+) G/A/T upstream_transcript_variant
rs201514147 uncertain-significance, Congenital hypothyroidism 45,112,541(+) C/A/G/T upstream_transcript_variant
rs369158930 uncertain-significance, Congenital hypothyroidism 45,112,636(+) C/A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for DUOXA2 Gene

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

Variation tolerance for DUOXA2 Gene

Residual Variation Intolerance Score: 52.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.47; 28.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DUOXA2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DUOXA2 Gene

Disorders for DUOXA2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DUOXA2 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
thyroid dyshormonogenesis 5
  • tdh5
familial thyroid dyshormonogenesis
  • thyroid dyshormonogenesis
  • goitre
dyshormonogenic goiter
  • thyroid deficiency
- elite association - COSMIC cancer census association via MalaCards


  • 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. {ECO:0000269 PubMed:18042646, ECO:0000269 PubMed:25675383}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for DUOXA2

genes like me logo Genes that share disorders with DUOXA2: view

No data available for Genatlas for DUOXA2 Gene

Publications for DUOXA2 Gene

  1. Identification of the maturation factor for dual oxidase. Evolution of an eukaryotic operon equivalent. (PMID: 16651268) Grasberger H … Refetoff S (The Journal of biological chemistry 2006) 2 3 4 58
  2. A novel missense mutation (I26M) in DUOXA2 causing congenital goiter hypothyroidism impairs NADPH oxidase activity but not protein expression. (PMID: 25675383) Liu S … Yan S (The Journal of clinical endocrinology and metabolism 2015) 3 4 58
  3. Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. (PMID: 18042646) Zamproni I … Weber G (The Journal of clinical endocrinology and metabolism 2008) 3 4 58
  4. [Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism]. (PMID: 28100324) Tan MY … Liu L (Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2017) 3 58
  5. Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism. (PMID: 28541007) Zheng X … Yang LX (Yonsei medical journal 2017) 3 58

Products for DUOXA2 Gene

Sources for DUOXA2 Gene

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