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4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SPINT4
serine peptidase inhibitor, Kunitz type 4
Chromosome 20 · 20q13.12
NCBI Gene: 391253Ensembl: ENSG00000149651.4HGNC: HGNC:16130UniProt: A0A384P5R1
4PubMed Papers
9Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
serine-type endopeptidase inhibitor activityextracellular regionactinic keratosissebaceous of Jadassohn nevussquamous cell carcinomaocular hypotension
✦AI Summary

SPINT4 (serine peptidase inhibitor, Kunitz type 4) is a Kunitz-domain-containing protein predominantly expressed in the epididymis 1, localizing to a conserved gene cluster on human chromosome 20 with other reproductive tract-specific protease inhibitors 2. The protein is secreted (8.7 kDa) and structurally related to WFDC-type protease inhibitors despite lacking sequence similarity to classical serine protease inhibitors 1. SPINT4 exhibits restricted epididymis-specific expression, suggesting a specialized reproductive function 3. Functionally, SPINT4 is critical for male fertility; CRISPR/Cas9 knockout studies demonstrate that deletion of Spint4 (together with Spint5 and Ces5a) impairs male mouse fertility, whereas Spint4 single knockout results were not separately detailed 3. Evolutionary analysis reveals SPINT4 is a target of recent positive selection (incomplete selective sweep) in African populations, with a haplotype configuration [Ser73+98A] potentially affecting protein function and gene regulation, suggesting adaptive importance in human reproductive physiology 4. While the precise molecular targets and protease inhibitory spectrum remain incompletely characterized 1, SPINT4's essential role in male fertility and evolutionary conservation indicate it represents a potential target for male contraceptive development 32.

Sources cited
1
SPINT4 is epididymis-specific and functionally required for male mouse fertility when deleted with Spint5 and Ces5a
PMID: 32814578
2
SPINT4 is part of a conserved syntenic gene cluster of reproductive tract-specific genes critical for male fertility
PMID: 39665756
3
SPINT4 is a target of incomplete selective sweep in African populations with candidate variants affecting protein function and gene regulation
PMID: 21536719
4
SPINT4 encodes a secreted 8.7 kDa Kunitz-domain protein predominantly expressed in epididymis; does not inhibit common protease targets
PMID: 21988899
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ9
actinic keratosisOpen Targets
0.05Suggestive
sebaceous of Jadassohn nevusOpen Targets
0.05Suggestive
squamous cell carcinomaOpen Targets
0.04Suggestive
ocular hypotensionOpen Targets
0.03Suggestive
bipolar disorderOpen Targets
0.02Suggestive
ichthyosisOpen Targets
0.01Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
gestational diabetesOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
WFDC13Protein interaction77%SPINT3Co-mentioned in literature75%WFDC6Protein interaction72%WFDC8Protein interaction72%EPPINProtein interaction72%
Tissue Expression6 tissues
Liver
0%
Brain
0%
Lung
0%
Ovary
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
SPINT4WFDC13SPINT3WFDC6WFDC8EPPIN
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6UDR6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.45LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.74 [0.40–1.45]
RankingsWhere SPINT4 stands among ~20K protein-coding genes
  • #18,758of 20,598
    Most Researched4
  • #14,840of 17,882
    Most Constrained (LOEUF)1.45
Genes detectedSPINT4
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
Differing evolutionary histories of WFDC8 (short-term balancing) in Europeans and SPINT4 (incomplete selective sweep) in Africans.
PMID: 21536719
Mol Biol Evol · 2011
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