SPATA8
Chr 15spermatogenesis associated 8
Also known as: SRG8
The protein localizes to the sperm flagellum and is required for normal sperm motility and male fertility. Mutations cause autosomal recessive primary ciliary dyskinesia, a disorder affecting respiratory cilia function that typically presents in infancy or early childhood with chronic respiratory infections, bronchiectasis, and often situs inversus. The gene shows moderate tolerance to loss-of-function variants, consistent with its role in a recessive ciliopathy.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
SPATA8 · 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 →No open access results found
External Resources
Links to major genomics databases and tools