PATE4
Chr 11prostate and testis expressed 4
Also known as: PATE-B
PATE4 encodes a protein that modulates nicotinic acetylcholine receptor function and may enhance sperm motility. The gene shows low constraint against loss-of-function variants (pLI 0.001, LOEUF 1.85), and no established human disease associations have been reported for mutations in this gene. PATE4 is primarily expressed in reproductive tissues rather than the nervous system despite its potential acetylcholine receptor regulatory activity.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
PATE4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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