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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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WFDC5
WAP four-disulfide core domain 5
Chromosome 20 · 20q13.12
NCBI Gene: 149708Ensembl: ENSG00000175121.12HGNC: HGNC:20477UniProt: Q8TCV5
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingserine-type endopeptidase inhibitor activityantibacterial humoral responseinnate immune responsetype 2 diabetes mellitusneoplasmcervical squamous intraepithelial neoplasiabipolar disorder
✦AI Summary

WFDC5 (WAP four-disulfide core domain 5) encodes a putative serine-type endopeptidase inhibitor with roles in innate immunity and mucosal defense. The protein contains WAP domains predicted to have antimicrobial activities 1, and sequence analysis suggests WFDC5 diverged early in WAP protein evolution, with distinct N-terminal and C-terminal domains serving different functions 1. WFDC5 is selectively expressed in human skin, particularly by epidermal keratinocytes as a secreted protein 2, and expression is upregulated during LPS-induced inflammation in the epididymis through NF-κB-dependent mechanisms 3, indicating region-specific roles in innate immune responses. Unlike the related protein WFDC12, WFDC5 expression is not restricted to terminal keratinocyte differentiation 4. Clinically, WFDC5 has been identified as a potential diagnostic and prognostic biomarker for melanoma metastatic progression 5 and as a smoke-responsive gene associated with esophageal squamous cell carcinoma susceptibility through gene-smoking interactions 6. These findings suggest WFDC5 contributes to cutaneous homeostasis, mucosal immunity, and potentially cancer development, though functional characterization remains incomplete.

Sources cited
1
WFDC5 WAP domains and their predicted antimicrobial and antiprotease activities; evolutionary relationship to other WAP proteins
PMID: 18360692
2
WFDC5 is a secreted protein selectively and highly expressed in human skin, specifically by epidermal keratinocytes
PMID: 23840300
3
WFDC5 expression is upregulated in response to LPS-induced inflammation in the epididymis through NF-κB-dependent mechanisms during innate immune responses
PMID: 33034631
4
WFDC5 is expressed in human epidermis but unlike WFDC12, its expression is not restricted to terminal keratinocyte differentiation
PMID: 33157095
5
WFDC5 identified as a diagnostic and prognostic biomarker for melanoma metastatic progression
PMID: 36553569
6
WFDC5 identified as a smoke-responsive gene associated with esophageal squamous cell carcinoma susceptibility
PMID: 40875139
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.16Weak
neoplasmOpen Targets
0.07Suggestive
cervical squamous intraepithelial neoplasiaOpen Targets
0.04Suggestive
bipolar disorderOpen Targets
0.03Suggestive
mathematical abilityOpen Targets
0.03Suggestive
thymic lymphomaOpen Targets
0.03Suggestive
bipolar I disorderOpen Targets
0.02Suggestive
dysplasiaOpen Targets
0.01Suggestive
SeizureOpen Targets
0.01Suggestive
rheumatoid arthritisOpen Targets
0.01Suggestive
lymphomaOpen Targets
0.01Suggestive
esophageal squamous cell carcinomaOpen Targets
0.00Suggestive
carcinomaOpen Targets
0.00Suggestive
neuroblastomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
cerebellar ataxiaOpen Targets
0.00Suggestive
cerebellar degenerationOpen Targets
0.00Suggestive
Hodgkins lymphomaOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
small cell lung carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
WFDC3Shared pathway100%WFDC10AShared pathway100%WFDC10BShared pathway100%WFDC9Shared pathway100%WFDC11Shared pathway100%WFDC13Shared pathway100%
Tissue Expression6 tissues
Lung
100%
Liver
40%
Ovary
20%
Brain
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
WFDC5WFDC3WFDC10AWFDC10BWFDC9WFDC11WFDC13
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8TCV5
View on AlphaFold ↗
RankingsWhere WFDC5 stands among ~20K protein-coding genes
  • #15,168of 20,598
    Most Researched17
Genes detectedWFDC5
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Biomarker Discovery for Meta-Classification of Melanoma Metastatic Progression Using Transfer Learning.
PMID: 36553569
Genes (Basel) · 2022
1.00
2
In silico study of whey-acidic-protein domain containing oral protease inhibitors.
PMID: 18360692
Int J Mol Med · 2008
0.83
3
Systematic identification and characterization of novel human skin-associated genes encoding membrane and secreted proteins.
PMID: 23840300
PLoS One · 2013
0.67
4
Lipopolysaccharide-induced epididymitis modifies the transcriptional profile of Wfdc genes in mice†.
PMID: 33034631
Biol Reprod · 2021
0.50
5
The Whey Acidic Protein WFDC12 Is Specifically Expressed in Terminally Differentiated Keratinocytes and Regulates Epidermal Serine Protease Activity.
PMID: 33157095
J Invest Dermatol · 2021
0.33