DUOX2

Chr 15

dual oxidase 2

Also known as: LNOX2, NOXEF2, P138-TOX, TDH6, THOX2

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtThyroid dyshormonogenesis 6
0
Active trials
100
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.27
LOEUF
GOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.27LOEUF
pLI 0.000
Z-score -0.46
OE 1.06 (0.88–1.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.17Z-score
OE missense 1.11 (1.05–1.17)
950 obs / 853.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.06 (0.88–1.27)
0≤0.351.4
Missense OE?1.11 (1.05–1.17)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 82 / 77.6Missense obs/exp: 950 / 853.8Syn Z: -1.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DUOX2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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