OSGIN2
Chr 8oxidative stress induced growth inhibitor family member 2
Also known as: C8orf1, hT41
The protein functions as a monooxygenase and is predicted to have growth factor activity involved in negative regulation of cell growth and possibly germ cell maturation. The gene is highly constrained against loss-of-function variants (LOEUF 0.427), suggesting mutations would likely cause severe developmental disorders. However, no specific disease associations have been established for OSGIN2 mutations in humans.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
125 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 34 | 0 | 34 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 64 | 7 | 0 | 71 |
Likely Benign | 0 | 2 | 0 | 5 | 7 |
Benign | 0 | 1 | 0 | 1 | 2 |
| Total | 0 | 67 | 41 | 6 | 114 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
OSGIN2 · 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