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4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SPINT3
serine peptidase inhibitor, Kunitz type 3
Chromosome 20 · 20q13.12
NCBI Gene: 10816Ensembl: ENSG00000101446.8HGNC: HGNC:11248UniProt: P49223
7PubMed Papers
8Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
serine-type endopeptidase inhibitor activityextracellular regionplacental retentionbladder exstrophypsoriasisthyroiditis
✦AI Summary

SPINT3 (serine peptidase inhibitor, Kunitz type 3) is a reproductive tract-specific gene located on chromosome 20.1 that encodes a secreted 7.6 kDa protein containing a Kunitz protease inhibitor domain 1. The gene is predominantly expressed in the epididymis 1, a male reproductive tissue critical for sperm maturation. SPINT3 belongs to a conserved syntenic gene cluster with WFDC and other SPINT family members that have been preserved across 96 million years of mammalian evolution, suggesting functional importance 2. However, CRISPR/Cas9 knockout studies demonstrate that SPINT3 is individually dispensable for male mouse fertility, as Spint3 single-gene knockouts display normal reproductive function 32. The recombinantly produced SPINT3 protein lacks inhibitory activity against eight common proteases (trypsin, chymotrypsin, plasmin, thrombin, factor Xa, elastase, urokinase, and PSA) tested in vitro, suggesting either a narrow substrate specificity or alternative non-inhibitory functions 1. Genetically predicted circulating SPINT3 levels were associated with decreased ovarian cancer risk in Mendelian randomization analysis 4, though the mechanistic basis requires further investigation. Additional research is needed to clarify SPINT3's specific biological role in reproductive physiology.

Sources cited
1
SPINT3 is located on chromosome 20q13.1, encodes a secreted 7.6 kDa protein with Kunitz domain, is predominantly expressed in epididymis, and lacks protease inhibitory activity against eight tested proteases
PMID: 21988899
2
SPINT3 knockout mice are fertile with normal reproductive function, demonstrating the gene is individually dispensable for male mouse fertility
PMID: 32814578
3
SPINT3 belongs to a highly conserved reproductive tract-specific gene cluster preserved across mammalian evolution; Spint3 single KO mice are fertile with no obvious reproductive phenotype
PMID: 39665756
4
Genetically predicted circulating SPINT3 levels are associated with decreased ovarian cancer risk
PMID: 39972314
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ8
placental retentionOpen Targets
0.16Weak
bladder exstrophyOpen Targets
0.12Weak
psoriasisOpen Targets
0.02Suggestive
thyroiditisOpen Targets
0.02Suggestive
gliomaOpen Targets
0.00Suggestive
coronary artery diseaseOpen Targets
0.00Suggestive
meningiomaOpen Targets
0.00Suggestive
brain neoplasmOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPINT4Co-mentioned in literature75%
Tissue Expression6 tissues
Ovary
0%
Liver
0%
Brain
0%
Heart
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SPINT3SPINT4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P49223
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.88LoF Tolerant
pLIⓘ
0.02Tolerant
Observed/Expected LoF1.12 [0.52–1.88]
RankingsWhere SPINT3 stands among ~20K protein-coding genes
  • #17,959of 20,598
    Most Researched7
  • #17,056of 17,882
    Most Constrained (LOEUF)1.88
Genes detectedSPINT3
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Large-scale discovery of male reproductive tract-specific genes through analysis of RNA-seq datasets.
PMID: 32814578
BMC Biol · 2020
1.00
2
Large-scale CRISPR/Cas9 deletions within the WFDC gene cluster uncover gene functionality and critical roles in mammalian reproduction.
PMID: 39665756
Proc Natl Acad Sci U S A · 2024
0.75
3
Potential drug targets for ovarian cancer identified through Mendelian randomization and colocalization analysis.
PMID: 39972314
J Ovarian Res · 2025
0.50
4
Three genes expressing Kunitz domains in the epididymis are related to genes of WFDC-type protease inhibitors and semen coagulum proteins in spite of lacking similarity between their protein products.
PMID: 21988899
BMC Biochem · 2011
0.25