PRSS2
protein-codingserine protease 2, the group of Serine proteases
Gene summary
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]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~14.2 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to PRSS2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_002770.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 1 | 1 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 1 | 0 | 0 | 1 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_002761.1 | 5 | MANE Select | |
| Ensembl | ENSP00000488338.1 | 5 | MANE Select | |
| RefSeq | NP_001290343.1 | 6 | Standard | |
| Ensembl | ENSP00000488789.1 | 5 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Influenza A - Homo sapiens (human)
- Protein digestion and absorption - Homo sapiens (human)
- Pancreatic secretion - Homo sapiens (human)
- Neuroactive ligand-receptor interaction - Homo sapiens (human)
- Neutrophil degranulation
Biological Process
- proteolysis
- digestion
- antimicrobial humoral response
- extracellular matrix disassembly
- positive regulation of cell growth
Molecular Function
- metalloendopeptidase activity
- serine-type endopeptidase activity
- calcium ion binding
- protein binding
- serine-type peptidase activity
Cellular Component
- extracellular region
- extracellular space
- extracellular matrix
- azurophil granule lumen
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: In the ileum, may be involved in defensin processing, including DEFA5. {ECO:0000269|PubMed:12021776}.;
Recessive Scores
- pRec
- 0.739
Essentials
- Indispensability pred.
- N
- Indispensability score
- 0.114