TSPY4
Chr Ytestis specific protein Y-linked 4
This protein is predicted to bind chromatin and histones and may be involved in sperm differentiation and proliferation. TSPY4 is located on the Y chromosome and follows Y-linked inheritance, meaning mutations would only affect males and be passed from father to son. Currently, no specific diseases have been definitively associated with TSPY4 mutations in pediatric patients.
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is gain-of-function.
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
62 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 50 |
Likely Pathogenic | — | — | — | — | 2 |
VUS | — | — | — | — | 5 |
Likely Benign | — | — | — | — | 4 |
Benign | — | — | — | — | 0 |
| Total | — | 61 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TSPY4 · 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