DUOX2 Gene: Dual Oxidase 2
Key player in thyroid hormone synthesis and congenital hypothyroidism
Gene Information Card
| Symbol | DUOX2 |
|---|---|
| Full Name | Dual Oxidase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 50506 ncbi.nlm.nih.gov/gene/50506 |
| Ensembl ID | ENSG00000140279 |
| UniProt ID | Q9NRD8 |
| OMIM ID | 606759 |
| HGNC ID | 13273 |
| Aliases | LNOX2, THOX2, p138-TOX |
Description
DUOX2 encodes dual oxidase 2, a member of the NADPH oxidase family that generates hydrogen peroxide (H2O2) required for thyroid peroxidase-catalyzed iodination of thyroglobulin during thyroid hormone synthesis. Mutations in DUOX2 are a common cause of congenital hypothyroidism, particularly transient forms. The gene is also expressed in the respiratory and gastrointestinal tracts, where it contributes to host defense.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital hypothyroidism (CH) | Loss-of-function mutations impair H2O2 production, reducing thyroid hormone synthesis | ClinVar, OMIM |
| Thyroid dyshormonogenesis 6 | Biallelic DUOX2 mutations cause permanent or transient CH with goiter | OMIM #607200 |
| Hypothyroidism, transient, due to DUOX2 deficiency | Partial loss-of-function leads to temporary neonatal hypothyroidism | ClinVar, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 12.5 | High |
| Trachea | 8.3 | Medium |
| Lung | 6.1 | Medium |
| Salivary gland | 5.4 | Medium |
| Esophagus | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Thyroid follicular cells | High | Primary site of H2O2 production |
| Airway epithelial cells | Medium | Host defense via lactoperoxidase system |
| Caco-2 (colon) | Low | Intestinal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1588A>T (p.Lys530*) | Nonsense | Rare | Loss of function |
| c.3329G>A (p.Arg1110Gln) | Missense | Common in CH | Reduced H2O2 generation |
| c.2895_2898del (p.Phe966Leufs*29) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most DUOX2 mutations are loss-of-function, reducing or abolishing H2O2 production, leading to hypothyroidism.
Gain of Function (GOF)
Not reported for DUOX2.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by dimerizing with wild-type DUOX2 or DUOXA2.
View complete mutation data：
Gene Ontology (GO)
| • peroxidase activity (GO:0004601) | • NAD(P)H oxidase activity (GO:0016174) |
| • oxidoreductase activity (GO:0016491) | • mitochondrion (GO:0005739) |
| • integral component of membrane (GO:0016021) | • thyroid hormone generation (GO:0006590) |
Pathways
• Thyroid hormone synthesis (KEGG hsa04918)
• NADPH oxidase pathway (Reactome R-HSA-5663202)
Protein Summary
DUOX2 is a 1548-amino acid transmembrane glycoprotein localized to the apical membrane of thyroid follicular cells. It contains an N-terminal peroxidase-like domain, six transmembrane helices, and a C-terminal NADPH oxidase domain. The protein functions as a heterodimer with DUOXA2, which is required for its maturation and trafficking. DUOX2 generates H2O2 that is used by thyroid peroxidase to iodinate thyroglobulin, a critical step in T3 and T4 synthesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DUOX2 Knockout HEK293 Cell Line | EDJ-KQ3726 | Human | 50506 | Details Get a Quote |
| DUOX2 Knockout HeLa Cell Line | EDJ-KQ56166 | Human | 50506 | Details Get a Quote |
| DUOX2 Knockout A-549 Cell Line | EDJ-KQ64655 | Human | 50506 | Details Get a Quote |
| DUOX2 Knockout HCT 116 Cell Line | EDJ-KQ73104 | Human | 50506 | Details Get a Quote |
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