PRSS33

protein-coding

serine protease 33, the group of Serine proteases

Gene summary

Predicted to enable serine-type endopeptidase activity. Involved in proteolysis. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_152891.3

Inheritance

—

ClinVar variants

U:52B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.87

Max pathogenic AF

—

Genomic locus

chr16:2,783,953-2,787,948

External References & Databases

Ensembl (ENSG00000103355)

Transcript & Mutation Effects

hg38 • Region Span ~4.0 kb

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GenCC 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 PRSS33 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 52

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152891.3. 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			50 clinvar	2 clinvar		52
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	52	2	0	54

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152891.3	RefSeq	NP_690851.2	6	MANE Select
ENST00000682474.1	Ensembl	ENSP00000507560.1	6	MANE Select
NM_001385462.1	RefSeq	NP_001372391.1	6	Standard
NM_001385463.1	RefSeq	NP_001372392.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis
protein kinase C signaling

Molecular Function

serine-type endopeptidase activity

Cellular Component

extracellular space
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000293851
Coding exons: 6
Length: 3996
Individuals with no LoFs: 123839
Homozygous LoFs: 0
Heterozygous LoFs: 36
Defined: 123875
p: 0.000145

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.785	139	168	0.829	0.0000111	1690
Missense (PolyPhen)		49	60.182	0.8142		657
Synonymous	1.01	64	75.1	0.852	0.00000516	640
Loss of Function	0.423	11	12.6	0.872	6.16e-7	125

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000057	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00016	0.00014	rare
South Asian	0.00064	0.00059	rare
Other	0.00018	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Serine protease that has amidolytic activity, cleaving its substrates before Arg residues. {ECO:0000269|PubMed:12795636}.;

Essentials

Essential (CRISPR): N
Essential (CRISPR2): E
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.109

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium