QSOX2
Chr 9quiescin sulfhydryl oxidase 2
Also known as: QSCN6L1, SOXN
The protein catalyzes the oxidation of sulfhydryl groups to disulfides and contributes to disulfide bond formation in secreted proteins. Based on the extremely low pLI score and moderate loss-of-function tolerance, pathogenic variants would likely cause disease through a gain-of-function mechanism, though specific neurological phenotypes associated with QSOX2 mutations have not been established. The inheritance pattern for QSOX2-related disorders remains undefined.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
QSOX2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools