TMPRSS12

Chr 12

transmembrane serine protease 12

Also known as: CT151

NCBI Gene: 283471ENSG00000186452UniProt: Q86WS5

Predicted to enable serine-type endopeptidase activity. Predicted to be involved in acrosome assembly and positive regulation of sperm capacitation. Predicted to act upstream of or within binding activity of sperm to zona pellucida and protein processing. Predicted to be located in acrosomal vesicle. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.42
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.42LOEUF
pLI 0.000
Z-score 0.56
OE 0.82 (0.49–1.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.00Z-score
OE missense 1.00 (0.88–1.13)
178 obs / 178.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.82 (0.49–1.42)
0≤0.351.4
Missense OE?1.00 (0.88–1.13)
0≤0.61.4
Synonymous OE?0.84
0≤1.21.6
LoF obs/exp: 9 / 11.0Missense obs/exp: 178 / 178.2Syn Z: 1.02

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMPRSS12 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients