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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PRSS16
serine protease 16
Chromosome 6 · 6p22.1
NCBI Gene: 10279Ensembl: ENSG00000112812.16HGNC: HGNC:9480UniProt: F2Z2N5
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lysosomeendosomeserine-type peptidase activityprotein catabolic processThymomaschizophreniahepatocellular carcinomatype 1 diabetes mellitus
✦AI Summary

PRSS16 is a serine protease specifically expressed by cortical thymic epithelial cells (cTEC) in the thymus 1. The gene is located on human chromosome 6.3-p22, within the HLA class I region 1. Originally proposed to play a role in T-cell positive selection through peptide antigen processing 2, subsequent studies using Prss16-deficient mice revealed that PRSS16 is not required for quantitatively normal T-cell development, though it may have more subtle regulatory functions 2. PRSS16 expression is developmentally regulated, with embryonic expression coinciding with T-cell precursor colonization of the thymus 1. The gene undergoes alternative splicing to generate at least five transcripts with tissue and age-specific expression patterns, with different isoforms predominating in newborn versus adult thymi 3. Expression levels are altered in autoimmune-prone mice, suggesting a potential role in autoimmunity 1. PRSS16 is also implicated in schizophrenia pathophysiology through a miR-148b-3p/ZNF804A/PRSS16 regulatory pathway in neuronal cells 4. Clinically, PRSS16 polymorphisms have been investigated as candidate susceptibility factors for type 1 diabetes and celiac disease, though direct causative variants remain unidentified 5. PRSS16 expression patterns serve as a differentiation marker for cortical thymic epithelial cells in thymoma classification 6, and PRSS16 is included in a degradome-derived gene signature predicting metastasis risk in cervical cancer 7.

Sources cited
1
PRSS16 is a serine protease expressed specifically in thymic cortex epithelial cells; gene location on chromosome 6p21.3-p22; linked to IDDM susceptibility; developmental expression during T-cell development
PMID: 12144812
2
Prss16-deficient mice develop normally with normal thymic morphology and T-cell populations; suggests PRSS16 is not required for quantitatively normal T-cell development
PMID: 15632078
3
PRSS16 mRNA undergoes alternative splicing generating at least five transcripts with age and pathology-dependent expression patterns; expression changes in myasthenia gravis thymomas
PMID: 15592422
4
PRSS16 is regulated downstream of ZNF804A in the miR-148b-3p/ZNF804A pathway; involved in schizophrenia pathophysiology in neuronal cells
PMID: 32626976
5
PRSS16 polymorphisms investigated as T1D and celiac disease susceptibility factors; 15 bp deletion in exon 12 associated with disease but insufficient to explain full disease association
PMID: 17584581
6
PRSS16 serves as a cortical thymic epithelial cell differentiation marker in thymoma classification
PMID: 24236644
7
PRSS16 included in an eight-gene degradome signature that predicts distal metastasis in cervical cancer patients
PMID: 28639897
Disease Associationsⓘ20
ThymomaOpen Targets
0.06Suggestive
schizophreniaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
type 1 diabetes mellitusOpen Targets
0.01Suggestive
depressive disorderOpen Targets
0.01Suggestive
major depressive disorderOpen Targets
0.01Suggestive
prostate carcinomaOpen Targets
0.01Suggestive
appendicitisOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
neuroblastomaOpen Targets
0.01Suggestive
trichinosisOpen Targets
0.01Suggestive
myeloid sarcomaOpen Targets
0.01Suggestive
AutoimmunityOpen Targets
0.01Suggestive
autismOpen Targets
0.01Suggestive
breast carcinomaOpen Targets
0.01Suggestive
sarcoidosisOpen Targets
0.01Suggestive
chronic interstitial cystitisOpen Targets
0.01Suggestive
autoimmune diseaseOpen Targets
0.00Suggestive
leukemiaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CTRLShared pathway100%PGPEP1Shared pathway100%DPP7Shared pathway100%PREPProtein interaction78%PSMB11Protein interaction62%CPA1Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Ovary
51%
Lung
39%
Bone Marrow
4%
Liver
4%
Heart
2%
Gene Interaction Network
Click a node to explore
PRSS16CTRLPGPEP1DPP7PREPPSMB11CPA1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9NQE7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.57–0.94]
RankingsWhere PRSS16 stands among ~20K protein-coding genes
  • #14,233of 20,598
    Most Researched20
  • #8,746of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedPRSS16
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Schizophrenia‑associated microRNA‑148b‑3p regulates COMT and PRSS16 expression by targeting the ZNF804A gene in human neuroblastoma cells.
PMID: 32626976
Mol Med Rep · 2020
1.00
2
Analysis of the IDDM candidate gene Prss16 in NOD and NON mice.
PMID: 15144014
Dev Immunol · 2002
0.90
3
Expression, genomic structure and mapping of the thymus specific protease prss16: a candidate gene for insulin dependent diabetes mellitus susceptibility.
PMID: 12144812
J Autoimmun · 2002
0.80
4
Prss16 is not required for T-cell development.
PMID: 15632078
Mol Cell Biol · 2005
0.70
5
Alternatively spliced transcripts of the thymus-specific protease PRSS16 are differentially expressed in human thymus.
PMID: 15592422
Genes Immun · 2005
0.60