QSOX2

Chr 9q34.3

quiescin sulfhydryl oxidase 2

Aliases:: SOXN, DKFZp762A2013
MANE:: ENST00000358701.10

OMIM: 612860 ↗NCBI: 169714 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

QSOX2 · Q6ZRP7

v62025-08-01

Predicted Aligned Error matrix for QSOX2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.3/ 100

Confident

698 residues

Confidence breakdown

Very high(≥ 90)60%
Confident(70–90)15%
Low(50–70)5%
Very low(< 50)21%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Monogenic short stature
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

insomnia
0.35
refractive error
0.28
type 2 diabetes mellitus
0.25
atrial fibrillation
0.15
Abnormality of refraction
0.13
Inguinal hernia
0.10
MODY
0.08
Hernia
0.08
non-small cell lung carcinoma
0.07
maturity-onset diabetes of the young type 3
0.07

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

Protein function (UniProt)

Sulfhydryl oxidase 2

Sulfhydryl oxidase that catalyzes the oxidation of protein thiol groups to form disulfide bonds, with the reduction of oxygen to hydrogen peroxide (By similarity). May contribute to disulfide bond formation in secreted proteins (By similarity). May play a role in regulating the sensitization of neuroblastoma cells for interferon-gamma-induced apoptosis (PubMed:14633699). Required for normal ovarian function (By similarity)