DUOX2

Chr 15q21.1

dual oxidase 2

Aliases:: P138-TOX, P138(TOX), THOX2, LNOX2
MANE:: ENST00000389039.11

OMIM: 606759 ↗NCBI: 50506 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DUOX2 · Q9NRD8

v62025-08-01

Predicted Aligned Error matrix for DUOX2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.9/ 100

Confident

1,548 residues

Confidence breakdown

Very high(≥ 90)53%
Confident(70–90)32%
Low(50–70)7%
Very low(< 50)8%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital hypothyroidism
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
Unknown

Disease associations (Open Targets)

familial thyroid dyshormonogenesis
0.77
congenital hypothyroidism
0.62
hereditary disease
0.53
thyroid dyshormonogenesis 6
0.47
Iron deficiency anemia
0.40
transient congenital hypothyroidism
0.37
permanent congenital hypothyroidism
0.37
head injury
0.18
Basal ganglia calcification
0.12
bilateral striopallidodentate calcinosis
0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dual oxidase 2

Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO (PubMed:15972824). Plays a role in thyroid hormone synthesis. Also required for lactoperoxidase-mediated antimicrobial defense at the surface of mucosa (PubMed:12824283). Synthesizes NAADP from its reduced NAADPH form which promotes Ca(2+) signaling during T cell activation (PubMed:34784249). May have its own peroxidase activity through its N-terminal peroxidase-like domain