STAG3
Chr 7ARSTAG3 cohesin complex component
Also known as: SA3, SPGF61
The protein is a meiosis-specific component of the cohesin complex that maintains sister chromatid cohesion during cell division by forming a proteinaceous ring that traps sister chromatids until anaphase. Mutations cause premature ovarian failure and male spermatogenic failure, reflecting the protein's essential role in meiotic chromosome segregation in germ cells. The condition follows autosomal recessive inheritance and primarily affects reproductive function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
STAG3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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