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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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PRSS12
serine protease 12
Chromosome 4 Β· 4q26
NCBI Gene: 8492Ensembl: ENSG00000164099.4HGNC: HGNC:9477UniProt: P56730
13PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
presynapseglutamatergic synapseserine-type endopeptidase activityexocytosisintellectual disability, autosomal recessive 1atrial fibrillationautosomal recessive non-syndromic intellectual disabilityatrial flutter
✦AI Summary

PRSS12 (neurotrypsin/motopsin) is a mosaic serine protease with critical roles in neuronal development and cognition. 1 The protein is secreted from neurons and localizes to dendrites, soma, and axons, where it exhibits enzymatic activity against synthetic substrates and cleaves the proteoglycan agrin. 1 PRSS12 modulates neuronal plasticity through proteolytic action and cell-cell interactions; it interacts with seizure-related gene 6 to regulate neuronal morphology and neurite outgrowth. 2 In the developing brain, PRSS12 shows spatiotemporal expression patterns unique to the prefrontal cortex and has been implicated in primate-specific neural circuit formation. 3 Loss of PRSS12 function causes autosomal recessive intellectual developmental disorder in humans. 1, 4 Studies in motopsin knockout mice revealed preferential effects on social behaviors and decreased hippocampal dendritic spine density, with reduced CREB phosphorylation following spatial learning and social interaction. 4 Beyond neurodevelopment, PRSS12 associates with muscle mass and strength phenotypes through neuromuscular junction function, with specific genetic variants showing significant associations with grip strength and lean mass. 5 PRSS12 expression is downregulated in esophageal squamous cell carcinoma, where high expression correlates with improved survival, suggesting tumor-suppressive functions. 6

Sources cited
1
PRSS12 is a mosaic serine protease expressed in CNS with enzymatic properties including proteolytic activity; its absence causes mental retardation
PMID: 17223089
2
PRSS12 (motopsin) interacts with seizure-related gene 6 to modulate neuronal cell morphology and neurite outgrowth
PMID: 23770366
3
PRSS12 knockout mice show altered social behaviors and decreased dendritic spine density in hippocampus with reduced CREB phosphorylation
PMID: 20092579
4
PRSS12 shows spatiotemporal expression patterns in developing primate prefrontal cortex and influences neural circuit connectivity
PMID: 38562839
5
PRSS12 genetic variants associate with muscle mass and grip strength phenotypes related to neuromuscular junction function
PMID: 36609795
6
PRSS12 is downregulated in esophageal squamous cell carcinoma and high expression correlates with better survival
PMID: 31217847
7
PRSS12 expression influences prognosis of MYCN-amplified neuroblastoma
PMID: 32204764
Disease Associationsβ“˜21
intellectual disability, autosomal recessive 1Open Targets
0.66Moderate
atrial fibrillationOpen Targets
0.48Moderate
autosomal recessive non-syndromic intellectual disabilityOpen Targets
0.47Moderate
atrial flutterOpen Targets
0.39Weak
esophageal diseaseOpen Targets
0.35Weak
neurodegenerative diseaseOpen Targets
0.33Weak
chronic obstructive pulmonary diseaseOpen Targets
0.31Weak
cardiac arrhythmiaOpen Targets
0.31Weak
AnxietyOpen Targets
0.30Weak
insomniaOpen Targets
0.30Weak
pathological myopiaOpen Targets
0.30Weak
restless legs syndromeOpen Targets
0.29Weak
gastroesophageal reflux diseaseOpen Targets
0.27Weak
Alzheimer diseaseOpen Targets
0.15Weak
pulmonary arterial hypertensionOpen Targets
0.07Suggestive
liver diseaseOpen Targets
0.07Suggestive
ankylosing spondylitisOpen Targets
0.04Suggestive
Autosomal dominant striatal neurodegenerationOpen Targets
0.04Suggestive
schizophreniaOpen Targets
0.04Suggestive
sarcopeniaOpen Targets
0.04Suggestive
Intellectual developmental disorder, autosomal recessive 1UniProt
Pathogenic Variants2
NM_003619.4(PRSS12):c.1586G>A (p.Trp529Ter)Likely pathogenic
Intellectual disability, autosomal recessive 1
β˜…β˜†β˜†β˜†2023β†’ Residue 529
NM_003619.4(PRSS12):c.441_442del (p.Trp148fs)Likely pathogenic
Intellectual disability, autosomal recessive 1
β˜…β˜†β˜†β˜†2022β†’ Residue 148
View on ClinVar β†—
Related Genes
CRBNProtein interaction85%CC2D1AProtein interaction80%AGRNProtein interaction75%CA4Protein interaction71%C1RLShared pathway67%KLK1Shared pathway50%
Tissue Expression6 tissues
Lung
100%
Ovary
42%
Liver
30%
Bone Marrow
24%
Brain
17%
Heart
0%
Gene Interaction Network
Click a node to explore
PRSS12CRBNCC2D1AAGRNCA4C1RLKLK1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P56730
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.67–0.96]
RankingsWhere PRSS12 stands among ~20K protein-coding genes
  • #16,268of 20,598
    Most Researched13
  • #4,580of 5,498
    Most Pathogenic Variants2
  • #9,147of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedPRSS12
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genes encoding agrin (AGRN) and neurotrypsin (PRSS12) are associated with muscle mass, strength and plasma C-terminal agrin fragment concentration.
PMID: 36609795
Geroscience Β· 2023
1.00
2
Comparative gene expression analysis of the human periodontal ligament in deciduous and permanent teeth.
PMID: 23593441
PLoS One Β· 2013
0.90
3
A mental retardation gene, motopsin/prss12, modulates cell morphology by interaction with seizure-related gene 6.
PMID: 23770366
Biochem Biophys Res Commun Β· 2013
0.80
4
A mental retardation gene, motopsin/neurotrypsin/prss12, modulates hippocampal function and social interaction.
PMID: 20092579
Eur J Neurosci Β· 2009
0.70
5
Molecular architecture of primate specific neural circuit formation.
PMID: 38562839
Res Sq Β· 2024
0.60