DUOXA2

Chr 15q21.1

dual oxidase maturation factor 2

MANE:: ENST00000323030.6

OMIM: 612772 ↗NCBI: 405753 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DUOXA2 · Q1HG44

v62025-08-01

Predicted Aligned Error matrix for DUOXA2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.1/ 100

Confident

320 residues

Confidence breakdown

Very high(≥ 90)59%
Confident(70–90)24%
Low(50–70)6%
Very low(< 50)11%

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, autosomal or pseudoautosomal

Disease associations (Open Targets)

familial thyroid dyshormonogenesis
0.69
congenital hypothyroidism
0.43
hereditary disease
0.41
transient congenital hypothyroidism
0.37
Iron deficiency anemia
0.20
parasitic infectious disease
0.07
ulcerative colitis
0.06
cyclic hematopoiesis
0.06
Gaucher disease
0.06
Autosomal recessive malignant osteopetrosis
0.06

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

Protein function (UniProt)

Dual oxidase maturation factor 2

Required for the maturation and transport of functional DUOX2 from the endoplasmic reticulum to the plasma membrane (PubMed:16651268). Recruits DUOX2 to the apical cell membrane (PubMed:39126279)