PRSS21

Chr 16

serine protease 21

Also known as: ESP-1, ESP1, TEST1, TESTISIN

This gene encodes a cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. The encoded protein is predicted to be active on peptide linkages involving the carboxyl group of lysine or arginine. The encoded protein localizes to the cytoplasm and the plasma membrane of premeiotic testicular germ cells and may be involved in progression of testicular tumors of germ cell origin. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
1.32
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.32LOEUF
pLI 0.000
Z-score 0.66
OE 0.81 (0.521.32)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.64Z-score
OE missense 1.13 (1.011.26)
224 obs / 198.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.81 (0.521.32)
00.351.4
Missense OE?1.13 (1.011.26)
00.61.4
Synonymous OE?0.93
01.21.6
LoF obs/exp: 12 / 14.7Missense obs/exp: 224 / 198.5Syn Z: 0.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PRSS21 · 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

No active trials found for this gene.

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