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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SPINK7
serine peptidase inhibitor Kazal type 7
Chromosome 5 · 5q32
NCBI Gene: 84651Ensembl: ENSG00000145879.11HGNC: HGNC:24643UniProt: P58062
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinginflammatory responseserine-type endopeptidase inhibitor activityextracellular regionasthmaoral squamous cell carcinomacancerAbruptio Placentae
✦AI Summary

SPINK7 (serine peptidase inhibitor Kazal type 7) is a serine protease inhibitor that serves as a critical regulator of epithelial barrier function and inflammatory responses, particularly in the esophagus. The protein is normally part of the differentiation program of human esophageal epithelium and acts as an inhibitory checkpoint for inflammatory responses 1. SPINK7 functions by maintaining the balance between proteases and protease inhibitors, preventing excessive proteolytic activity that could compromise barrier integrity 2. Loss of SPINK7 expression leads to increased activity of urokinase plasminogen activator (uPA), barrier dysfunction, and production of proinflammatory cytokines including thymic stromal lymphopoietin (TSLP) 1. This dysregulation is clinically significant in eosinophilic esophagitis (EoE), where profound loss of SPINK7 expression occurs and contributes to disease pathogenesis 2. SPINK7 also functions as a tumor suppressor, with reduced expression observed in various cancers including esophageal and oral squamous cell carcinomas 34. Additionally, SPINK7 has been identified as a p53 transcriptional target involved in DNA damage response and apoptosis 3. In inflammatory bowel disease models, neutrophil-derived Spink7 provides protection against experimental colitis by controlling chemokine and cytokine production 5.

Sources cited
1
SPINK7 is part of esophageal epithelial differentiation program and acts as inhibitory checkpoint for inflammatory responses
PMID: 29875205
2
SPINK7 is part of normal esophageal differentiation and its loss in EoE leads to increased proteolytic activity and barrier dysfunction
PMID: 29980278
3
SPINK7 functions as tumor suppressor and is a p53 transcriptional target involved in DNA damage response
PMID: 38892042
4
SPINK7 expression is reduced in oral squamous cell carcinoma
PMID: 33767253
5
Neutrophil-derived Spink7 protects against experimental colitis by controlling cytokine production
PMID: 33722746
Disease Associationsⓘ20
asthmaOpen Targets
0.11Weak
oral squamous cell carcinomaOpen Targets
0.09Suggestive
cancerOpen Targets
0.07Suggestive
Abruptio PlacentaeOpen Targets
0.05Suggestive
Autosomal recessive early-onset inflammatory bowel diseaseOpen Targets
0.04Suggestive
esophageal adenocarcinomaOpen Targets
0.04Suggestive
esophageal cancerOpen Targets
0.04Suggestive
Crohn's diseaseOpen Targets
0.04Suggestive
inflammatory bowel disease 1Open Targets
0.04Suggestive
ulcerative colitisOpen Targets
0.04Suggestive
inflammatory bowel disease 30Open Targets
0.04Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
inflammatory bowel diseaseOpen Targets
0.03Suggestive
inflammatory bowel disease 29Open Targets
0.03Suggestive
inflammatory bowel disease 25Open Targets
0.03Suggestive
visceral myopathy 2Open Targets
0.03Suggestive
immunodeficiency 89 and autoimmunityOpen Targets
0.03Suggestive
colitisOpen Targets
0.03Suggestive
tooth diseaseOpen Targets
0.02Suggestive
eosinophilic esophagitisOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPINK9Shared pathway50%SPINK14Shared pathway50%SPINK6Shared pathway50%TM4SF20Shared pathway50%CSTBShared pathway50%ABCF1Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Ovary
100%
Lung
75%
Brain
25%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
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SPINK7SPINK9SPINK14SPINK6TM4SF20CSTBABCF1
PROTEIN STRUCTURE
Preparing viewer…
PDB2LEO · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.39LoF Tolerant
pLIⓘ
0.15Tolerant
Observed/Expected LoF0.55 [0.25–1.39]
RankingsWhere SPINK7 stands among ~20K protein-coding genes
  • #12,682of 20,598
    Most Researched27
  • #14,416of 17,882
    Most Constrained (LOEUF)1.39
Genes detectedSPINK7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Epithelial origin of eosinophilic esophagitis.
PMID: 29980278
J Allergy Clin Immunol · 2018
1.00
2
ECRG2/SPINK7 Tumor Suppressor as Modulator of DNA Damage Response.
PMID: 38892042
Int J Mol Sci · 2024
0.90
3
The antiprotease SPINK7 serves as an inhibitory checkpoint for esophageal epithelial inflammatory responses.
PMID: 29875205
Sci Transl Med · 2018
0.80
4
Role of genetics, environment, and their interactions in the pathogenesis of eosinophilic esophagitis.
PMID: 31132551
Curr Opin Immunol · 2019
0.70
5
SPINK7 expression changes accompanied by HER2, P53 and RB1 can be relevant in predicting oral squamous cell carcinoma at a molecular level.
PMID: 33767253
Sci Rep · 2021
0.60