SPATA22
Chr 17ARspermatogenesis associated 22
Also known as: NYD-SP20, NYDSP20, POF25, SPGF96
This meiosis-specific protein is required for homologous recombination during meiosis I. Mutations cause autosomal recessive spermatogenic failure in males and premature ovarian failure in females, affecting reproductive function. The gene shows low constraint against loss-of-function variants in the general population, consistent with its reproductive-specific phenotype that would not affect survival to reproductive age.
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
SPATA22 · 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