PRSS3
protein-codingserine protease 3, the group of Serine proteases
Gene summary
This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is expressed in the brain and pancreas and is resistant to common trypsin inhibitors. It is active on peptide linkages involving the carboxyl group of lysine or arginine. This gene is localized to the locus of T cell receptor beta variable orphans on chromosome 9. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2010]
- PRSS4
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~48.6 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 PRSS3 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_002771.4. 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 | 6 | 6 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 10 | 0 | 0 | 10 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_002762.3 | 5 | MANE Select | |
| Ensembl | ENSP00000368715.3 | 5 | MANE Select | |
| RefSeq | NP_001184026.3 | 5 | Standard | |
| RefSeq | NP_001184027.1 | 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
- cobalamin metabolic process
- antimicrobial humoral response
- zymogen activation
Molecular Function
- serine-type endopeptidase activity
- calcium ion binding
- protein binding
- serine-type peptidase activity
Cellular Component
- extracellular region
- extracellular space
- tertiary granule lumen
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000361005
- Coding exons
- 5
- Length
- 48716
- Individuals with no LoFs
- 125716
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 32
- Defined
- 125748
- p
- 0.000127
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.0348 | 159 | 158 | 1.01 | 0.00000923 | 1909 |
| Missense (PolyPhen) | 59 | 53.283 | 1.1073 | 676 | ||
| Synonymous | 1.44 | 50 | 64.7 | 0.772 | 0.00000401 | 613 |
| Loss of Function | -1.24 | 15 | 10.6 | 1.41 | 5.46e-7 | 128 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00055 | 0.00055 | rare |
| Latino/Admixed American | 0.000029 | 0.000029 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00054 | 0.00054 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000088 | 0.000088 | rare |
| South Asian | 0.000065 | 0.000065 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Digestive protease that cleaves proteins preferentially after an Arg residue and has proteolytic activity toward Kunitz- type trypsin inhibitors. {ECO:0000269|PubMed:11827488, ECO:0000269|PubMed:14507909, ECO:0000269|PubMed:18077447, ECO:0000269|PubMed:25301953, ECO:0000269|PubMed:27810896, ECO:0000269|PubMed:9099703}.;
Recessive Scores
- pRec
- 0.851
Intolerance Scores
- LoFtool
- 0.152
- RVIS EVS
- -0.14
- RVIS percentile EVS
- 43.29
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.704
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |