PRSS2

serine protease 2, the group of Serine proteases

Basic information

Region (hg38): 7:142760398-142774564

Links

ENSG00000275896

∙ NCBI:5645 ∙ OMIM:601564 ∙ HGNC:9483 ∙ Uniprot:P07478 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PRSS2 gene.

Pancreatitis, chronic, protection against (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRSS2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

Variants in PRSS2

This is a list of pathogenic ClinVar variants found in the PRSS2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-142774035-G-A		Pancreatitis, chronic, protection against	protective (Jun 01, 2006)	8070

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: In the ileum, may be involved in defensin processing, including DEFA5. {ECO:0000269|PubMed:12021776}.;
Pathway: 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;Collagen degradation;Extracellular matrix organization;Antimicrobial peptides;Innate Immune System;Immune System;Activation of Matrix Metalloproteinases;Alpha-defensins;Defensins;Degradation of the extracellular matrix (Consensus)

Recessive Scores

pRec: 0.739

Haploinsufficiency Scores

pHI: 0.235
hipred
hipred_score
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.114

Mouse Genome Informatics

Gene name: Prss2
Phenotype

Gene ontology

Biological process: proteolysis;digestion;antimicrobial humoral response;extracellular matrix disassembly;positive regulation of cell growth;collagen catabolic process;neutrophil degranulation;positive regulation of cell adhesion
Cellular component: extracellular region;extracellular space;extracellular matrix;azurophil granule lumen
Molecular function: metalloendopeptidase activity;serine-type endopeptidase activity;calcium ion binding;protein binding;serine-type peptidase activity