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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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WFDC12
WAP four-disulfide core domain 12
Chromosome 20 · 20q13.12
NCBI Gene: 128488Ensembl: ENSG00000168703.5HGNC: HGNC:16115UniProt: Q8WWY7
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingserine-type endopeptidase inhibitor activitydefense response to bacteriuminnate immune responsebipolar disorderAlzheimer diseasepsoriasisbipolar I disorder
✦AI Summary

WFDC12 (WAP four-disulfide core domain 12) is a serine protease inhibitor and antibacterial protein primarily expressed in terminally differentiated keratinocytes, where it localizes to corneodesmosomes in the stratum corneum 1. The protein functions as a negative regulator of epidermal serine protease activity, specifically inhibiting neutrophil elastase and kallikrein-related peptidases 1. WFDC12 also exhibits immunomodulatory properties, reducing pro-inflammatory cytokine production (IL-8, MCP-1) in response to lipopolysaccharide stimulation 2. In disease contexts, WFDC12 overexpression exacerbates atopic dermatitis (AD) pathogenesis by enhancing arachidonic acid metabolism and platelet-activating factor accumulation while promoting Th2 immune cell infiltration 3. Conversely, WFDC12 is strongly upregulated in clinically normal-appearing skin of Netherton syndrome patients, and its expression increases following dupilumab treatment concurrent with improved epidermal barrier function 1, 4. In esophageal squamous cell carcinoma, low WFDC12 expression correlates with enhanced cell proliferation and migration, suggesting a protective role 5. WFDC12 expression is also dynamically regulated during innate immune responses in the lung and epididymis 2, 6, and is induced upon parasitic challenge 7, indicating broader roles in mucosal defense.

Sources cited
1
WFDC12 is expressed in terminally differentiated keratinocytes, localizes to corneodesmosomes, inhibits neutrophil elastase and kallikrein-related peptidases, and is elevated in psoriasis, atopic dermatitis, and Netherton syndrome
PMID: 33157095
2
WFDC12 overexpression contributes to atopic dermatitis by accelerating ALOX12/15 metabolism, PAF accumulation, and promoting Th cell infiltration
PMID: 36882395
3
WFDC12 expression increases after dupilumab treatment in Netherton syndrome, concurrent with improved epidermal structure and increased FLG, CDSN, and DSG1
PMID: 40344324
4
Recombinant WFDC12 inhibits cathepsin G activity and reduces pro-inflammatory cytokine production (IL-8 and MCP-1) in monocytes stimulated with LPS
PMID: 25770093
5
WFDC12 transcripts are upregulated in response to LPS-induced epididymitis, indicating a role in innate immune responses
PMID: 33034631
6
WFDC12 is expressed at low levels in esophageal squamous cell carcinoma, and knockdown promotes cell proliferation and migration
PMID: 37225895
7
WFDC12 is specifically induced in intestinal epithelial cells upon exposure to Giardia intestinalis cysts
PMID: 35573800
8
WFDC12 WAP domain is predicted to have antimicrobial activities based on phylogenetic and structural analysis
PMID: 18360692
Disease Associationsⓘ20
bipolar disorderOpen Targets
0.35Weak
Alzheimer diseaseOpen Targets
0.08Suggestive
psoriasisOpen Targets
0.07Suggestive
bipolar I disorderOpen Targets
0.07Suggestive
mathematical abilityOpen Targets
0.05Suggestive
type 2 diabetes mellitusOpen Targets
0.03Suggestive
dysplasiaOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
dry eye syndromeOpen Targets
0.02Suggestive
atopic eczemaOpen Targets
0.02Suggestive
rosaceaOpen Targets
0.01Suggestive
systemic inflammatory response syndromeOpen Targets
0.01Suggestive
acute respiratory distress syndromeOpen Targets
0.00Suggestive
cystOpen Targets
0.00Suggestive
ichthyosisOpen Targets
0.00Suggestive
Inflammatory abnormality of the skinOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
skin neoplasmOpen Targets
0.00Suggestive
oral squamous cell carcinomaOpen Targets
0.00Suggestive
Netherton syndromeOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SEMG1Protein interaction83%SEMG2Protein interaction83%WFDC5Protein interaction79%PI3Protein interaction71%WFDC10BShared pathway67%WFDC9Shared pathway67%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
WFDC12SEMG1SEMG2WFDC5PI3WFDC10BWFDC9
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WWY7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.17Tolerant
Observed/Expected LoF0.48 [0.24–1.11]
RankingsWhere WFDC12 stands among ~20K protein-coding genes
  • #16,620of 20,598
    Most Researched12
  • #11,347of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedWFDC12
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
WFDC12-overexpressing contributes to the development of atopic dermatitis via accelerating ALOX12/15 metabolism and PAF accumulation.
PMID: 36882395
Cell Death Dis · 2023
1.00
2
Blocking of IL-4/IL-13 Signalling With Dupilumab Results in Restoration of Serum and Cutaneous Abnormalities in Netherton Syndrome.
PMID: 40344324
Exp Dermatol · 2025
0.90
3
The Whey Acidic Protein WFDC12 Is Specifically Expressed in Terminally Differentiated Keratinocytes and Regulates Epidermal Serine Protease Activity.
PMID: 33157095
J Invest Dermatol · 2021
0.80
4
In silico study of whey-acidic-protein domain containing oral protease inhibitors.
PMID: 18360692
Int J Mol Med · 2008
0.70
5
Lipopolysaccharide-induced epididymitis modifies the transcriptional profile of Wfdc genes in mice†.
PMID: 33034631
Biol Reprod · 2021
0.60