SPATA31D3
Chr 9SPATA31 subfamily D member 3
Also known as: FAM75D3
The protein is predicted to be involved in cell differentiation and spermatogenesis and localizes to cellular membranes. Gain-of-function mutations are predicted to cause disease, though specific clinical phenotypes and inheritance patterns have not been established. The pathogenic mechanism appears to involve excessive or altered protein function.
Population Genetics & Constraint
Constraint data not available from gnomAD.
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
99 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 | 25 | 0 | 25 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 55 | 2 | 0 | 57 |
Likely Benign | 0 | 12 | 0 | 0 | 12 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 67 | 31 | 0 | 98 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SPATA31D3 · 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