PRSS22

Chr 16

serine protease 22

Also known as: BSSP-4, SP001LA, TPSE1, hBSSP-4

NCBI Gene: 64063ENSG00000005001UniProt: Q9GZN4

This gene encodes a member of the trypsin family of serine proteases. The enzyme is expressed in the airways in a developmentally regulated manner. The gene is part of a cluster of serine protease genes on chromosome 16. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.94
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.94LOEUF
pLI 0.003
Z-score 1.72
OE 0.48 (0.26–0.94)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.02Z-score
OE missense 0.79 (0.70–0.91)
154 obs / 193.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.48 (0.26–0.94)
0≤0.351.4
Missense OE?0.79 (0.70–0.91)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 6 / 12.6Missense obs/exp: 154 / 193.9Syn Z: 0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRSS22 · 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