DUOXA2
Dual Oxidase Maturation Factor 2
Gene Information Card
| Symbol | DUOXA2 |
|---|---|
| Full Name | Dual Oxidase Maturation Factor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 405753 ncbi.nlm.nih.gov/gene/405753 |
| Ensembl ID | ENSG00000140284 |
| UniProt ID | Q1HG44 |
| OMIM ID | 612772 |
| HGNC ID | 26511 |
| Aliases | FLJ23862, MGC138290 |
Description
DUOXA2 encodes a maturation factor essential for the functional expression of dual oxidase 2 (DUOX2). DUOXA2 facilitates the translocation of DUOX2 from the endoplasmic reticulum to the plasma membrane and is required for DUOX2 enzymatic activity, which generates hydrogen peroxide (H2O2) used in thyroid hormone synthesis. Mutations in DUOXA2 cause congenital hypothyroidism due to defective H2O2 production.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital hypothyroidism due to DUOXA2 deficiency | Loss-of-function mutations impair DUOX2 maturation and H2O2 generation, reducing thyroid peroxidase activity | OMIM #612772; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Thyroid | 12.5 | Medium |
| Trachea | 3.2 | Low |
| Lung | 2.1 | Low |
| Salivary gland | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Thyroid follicular cells | 15.0 | Primary cell type |
| Nthy-ori 3-1 | 8.5 | Thyroid cell line |
| HeLa | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.129G>A (p.Trp43*) | Nonsense | Rare | Loss of function; truncated protein |
| c.413G>A (p.Arg138Gln) | Missense | Rare | Impaired DUOX2 maturation |
| c.738_739del (p.Glu247Glyfs*12) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported DUOXA2 mutations are loss-of-function, leading to reduced H2O2 production and congenital hypothyroidism.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity (GO:0016491) | • integral component of membrane (GO:0016021) |
| • cytoplasm (GO:0005737) | • endoplasmic reticulum (GO:0005783) |
| • plasma membrane (GO:0005886) | • metal ion binding (GO:0046872) |
Pathways
• Thyroid hormone synthesis (KEGG hsa04918)
• NADPH oxidase activity
Protein Summary
DUOXA2 is a 320-amino acid transmembrane protein localized to the endoplasmic reticulum and plasma membrane. It acts as a chaperone for DUOX2, ensuring its proper folding and transport. Without DUOXA2, DUOX2 remains inactive and retained in the ER, leading to deficient H2O2 production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DUOXA2 Knockout HEK293 Cell Line | EDJ-KQ11741 | Human | 405753 | Details Get a Quote |
| DUOXA2 Knockout HeLa Cell Line | EDJ-KQ60349 | Human | 405753 | Details Get a Quote |
| DUOXA2 Knockout A-549 Cell Line | EDJ-KQ68816 | Human | 405753 | Details Get a Quote |
| DUOXA2 Knockout HCT 116 Cell Line | EDJ-KQ77180 | Human | 405753 | Details Get a Quote |
