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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SPINK6
serine peptidase inhibitor Kazal type 6
Chromosome 5 · 5q32
NCBI Gene: 404203Ensembl: ENSG00000178172.7HGNC: HGNC:29486UniProt: Q6UWN8
20PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
serine-type endopeptidase inhibitor activitynegative regulation of proteolysisextracellular regionhepatocellular carcinomaneoplasmX-linked severe congenital neutropenianeutropenia, severe congenital, 2, autosomal dominant
✦AI Summary

SPINK6 (serine peptidase inhibitor Kazal type 6) is a selective serine protease inhibitor that functions primarily as a tissue-specific regulator of kallikrein-related peptidases (KLKs). It efficiently inhibits multiple KLK family members including KLK4, KLK5, KLK6, KLK7, KLK12, KLK13, and KLK14, but does not inhibit KLK8 1. The protein contains a single Kazal domain with three critical intramolecular disulfide bonds required for proper folding and inhibitory activity 2. SPINK6 expression is prominent in the stratum granulosum of human skin and in skin appendages, where it regulates KLK-mediated desquamation 1. In the airway, SPINK6 restricts influenza A virus activation by inhibiting serine proteases HAT and KLK5, which are required for hemagglutinin cleavage and viral replication 3. Individuals carrying higher SPINK6 expression alleles show protection from H7N9 infection 3. Beyond protective roles, SPINK6 exhibits pathological involvement in cancer progression. In hepatocellular carcinoma, the BAP31-ELAVL1-SPINK6 axis promotes metastasis through loss of cell polarity and epithelial-mesenchymal transition 4. Similarly, SPINK6 activation of the EGFR/EphA2 complex drives melanoma metastasis 5. SPINK6 expression is reduced in atopic dermatitis lesions and downregulated following skin barrier disruption, suggesting its importance in maintaining epidermal integrity 16.

Sources cited
1
SPINK6 inhibits HAT and KLK5 to restrict influenza A virus activation; higher expression alleles protect against H7N9 infection
PMID: 34826211
2
BAP31-ELAVL1-SPINK6 axis promotes hepatocellular carcinoma metastasis through loss of cell polarity and EMT
PMID: 39990675
3
SPINK6 is a marker of nail-specific epithelial keratinocytes distinct from epidermal keratinocytes
PMID: 34099859
4
SPINK6 contains a Kazal domain requiring three disulfide bonds; Pichia pastoris expression produces higher activity against KLK14
PMID: 22212898
5
Porphyromonas gingivalis gingipains degrade SPINK6 and activate KLKs, potentially linking periodontitis to tumor development
PMID: 27354280
6
SPINK6 activates EGFR/EphA2 complex to drive melanoma metastasis; BRD4 inhibition suppresses this pathway
PMID: 36516883
7
SPINK6 selectively inhibits KLK5, KLK7, and KLK14; expressed in stratum granulosum and skin appendages; decreased in atopic dermatitis
PMID: 20667819
8
Mouse Spink6 has conserved Kazal domain; downregulated by TNFα/IFNγ, retinoic acid, and barrier injury; regulates epidermal barrier function
PMID: 24352040
Disease Associationsⓘ20
hepatocellular carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
X-linked severe congenital neutropeniaOpen Targets
0.05Suggestive
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.05Suggestive
squamous cell carcinomaOpen Targets
0.05Suggestive
Neutropenia - monocytopenia - deafnessOpen Targets
0.05Suggestive
neutropenia-monocytopenia-deafness syndromeOpen Targets
0.05Suggestive
actinic keratosisOpen Targets
0.05Suggestive
neutropenia, severe congenital, 10, autosomal recessiveOpen Targets
0.04Suggestive
sebaceous of Jadassohn nevusOpen Targets
0.04Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.04Suggestive
agammaglobulinemia 7, autosomal recessiveOpen Targets
0.04Suggestive
monocytopenia with susceptibility to infectionsOpen Targets
0.04Suggestive
severe combined immunodeficiency due to IKK2 deficiencyOpen Targets
0.04Suggestive
severe combined immunodeficiency due to CARD11 deficiencyOpen Targets
0.04Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.04Suggestive
immunodeficiency 18Open Targets
0.03Suggestive
DDX41-related hematologic malignancy predisposition syndromeOpen Targets
0.03Suggestive
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.03Suggestive
autoimmune lymphoproliferative syndrome type 4Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CSTBShared pathway100%TM4SF20Shared pathway100%SPINK9Shared pathway100%SPINK14Shared pathway100%KLK14Protein interaction96%KLK13Protein interaction96%
Tissue Expression6 tissues
Lung
100%
Brain
50%
Bone Marrow
0%
Heart
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
SPINK6CSTBTM4SF20SPINK9SPINK14KLK14KLK13
PROTEIN STRUCTURE
Preparing viewer…
PDB2N52 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.78LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.07 [0.62–1.78]
RankingsWhere SPINK6 stands among ~20K protein-coding genes
  • #14,276of 20,598
    Most Researched20
  • #16,472of 17,882
    Most Constrained (LOEUF)1.78
Genes detectedSPINK6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
SPINK6 inhibits human airway serine proteases and restricts influenza virus activation.
PMID: 34826211
EMBO Mol Med · 2022
1.00
2
BAP31-ELAVL1-SPINK6 axis induces loss of cell polarity and promotes metastasis in hepatocellular carcinoma.
PMID: 39990675
Int J Biol Sci · 2025
0.90
3
Single-cell RNA sequencing of human nail unit defines RSPO4 onychofibroblasts and SPINK6 nail epithelium.
PMID: 34099859
Commun Biol · 2021
0.80
4
Expression, purification and characterization of recombinant human serine proteinase inhibitor Kazal-type 6 (SPINK6) in Pichia pastoris.
PMID: 22212898
Protein Expr Purif · 2012
0.70
5
Gingipains of Porphyromonas gingivalis Affect the Stability and Function of Serine Protease Inhibitor of Kazal-type 6 (SPINK6), a Tissue Inhibitor of Human Kallikreins.
PMID: 27354280
J Biol Chem · 2016
0.60