PRSS36

protein-coding

serine protease 36, the group of Serine proteases

Gene summary

Enables serine-type endopeptidase activity. Predicted to be involved in zymogen activation. Located in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_173502.5

Inheritance

—

ClinVar variants

U:141B:9

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.8

Max pathogenic AF

—

Genomic locus

chr16:31,138,926-31,150,083

External References & Databases

Ensembl (ENSG00000178226)

Transcript & Mutation Effects

hg38 • Region Span ~11.2 kb

Loading mutation effect viewer...

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 PRSS36 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 135

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_173502.5. 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			3 clinvar	3 clinvar		6
missense			133 clinvar	5 clinvar	1 clinvar	139
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	141	8	1	150

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_173502.5	RefSeq	NP_775773.2	15	MANE Select
ENST00000268281.9	Ensembl	ENSP00000268281.4	15	MANE Select
NM_001258290.2	RefSeq	NP_001245219.1	15	Standard
NM_001258291.2	RefSeq	NP_001245220.1	14	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis

Molecular Function

serine-type endopeptidase activity

Cellular Component

extracellular region
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000268281
Coding exons: 15
Length: 11170
Individuals with no LoFs: 125478
Homozygous LoFs: 0
Heterozygous LoFs: 270
Defined: 125748
p: 0.00107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.915	415	471	0.881	0.0000265	5317
Missense (PolyPhen)		145	160.93	0.90102		1898
Synonymous	1.36	180	205	0.879	0.0000115	1867
Loss of Function	1.17	33	41.1	0.803	0.00000215	422

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00056	0.00055	rare
Latino/Admixed American	0.0013	0.0013	notable
Ashkenazi Jewish	0.0015	0.0015	notable
East Asian	0.0026	0.0026	notable
Finnish	0.00046	0.00046	rare
European (Non-Finnish)	0.00083	0.00081	rare
South Asian	0.0013	0.0013	notable
Other	0.0018	0.0018	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Serine protease. Hydrolyzes the peptides N-t-Boc-Gln- Ala-Arg-AMC and N-t-Boc-Gln-Gly-Arg-AMC and, to a lesser extent, N-t-Boc-Ala-Phe-Lys-AMC and N-t-Boc-Val-Leu-Lys-AMC. Has a preference for substrates with an Arg instead of a Lys residue in position P1.;

Recessive Scores

pRec: 0.116

Intolerance Scores

LoFtool: 0.270
RVIS EVS: 0.8
RVIS percentile EVS: 87.66

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0345

Gene Damage Prediction

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