PRSS2

Chr 7AD

serine protease 2

Also known as: TRY2, TRY8, TRYP2

This gene belongs to the trypsin family of serine proteases and encodes anionic trypsinogen. It is part of a cluster of trypsinogen genes that are located within the T cell receptor beta locus. Enzymes of this family cleave peptide bonds that follow lysine or arginine residues. This protein is found at high levels in pancreatic juice and its upregulation is a characteristic feature of pancreatitis. This protein has also been found to activate pro-urokinase in ovarian tumors, suggesting a function in tumor invasion. In addition, this enzyme is able to cleave across the type II collagen triple helix in rheumatoid arthritis synovitis tissue, potentially participating in the degradation of type II collagen-rich cartilage matrix. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2015]

Primary Disease Associations & Inheritance

{Pancreatitis, chronic, protection against}MIM #167800
AD
28
ClinVar variants
21
Pathogenic / LP
pLI score
1
Active trials
Clinical SummaryPRSS2
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ClinVar Variants
21 Pathogenic / Likely Pathogenic· 1 VUS of 28 total submissions
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

28 submitted variants in ClinVar

Classification Summary

Pathogenic20
Likely Pathogenic1
VUS1
Likely Benign4
Benign2
20
Pathogenic
1
Likely Pathogenic
1
VUS
4
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
20
Likely Pathogenic
1
VUS
1
Likely Benign
4
Benign
2
Total28

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PRSS2 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

{Pancreatitis, chronic, protection against}

MIM #167800

Molecular basis of disorder known

Autosomal dominant
📖
GeneReview available — PRSS2
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence