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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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WFDC1
WAP four-disulfide core domain 1
Chromosome 16 · 16q24.1
NCBI Gene: 58189Ensembl: ENSG00000103175.12HGNC: HGNC:15466UniProt: Q9HC57
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cell growthGO:0005615negative regulation of cell growthpeptidase inhibitor activitymajor salivary gland cancerneurodegenerative diseasemusculoskeletal system diseaseVertigo
✦AI Summary

WFDC1 (WAP four-disulfide core domain 1) encodes ps20, a secreted protein that functions as a growth inhibitor and modulator of inflammatory responses. The protein contains four disulfide bonds formed by eight cysteine residues and exhibits characteristics of serine protease inhibitors 1. WFDC1 has growth inhibitory activity and was first characterized as a secreted growth inhibitor from fetal urogenital sinus mesenchymal cells 2. The protein regulates cell adhesion, migration, and proliferation, and can stimulate angiogenesis through effects on endothelial cell migration and pericyte stabilization 1. Mechanistically, WFDC1 functions as a matricellular protein that modulates inflammatory and wound repair responses by regulating osteopontin and matrix metallopeptidase-9 (MMP-9) activity 3. WFDC1-null mice show enhanced wound healing rates and altered immune responses, including reduced viral titers in influenza infection 3. The gene maps to chromosome 16, a region of frequent loss of heterozygosity in multiple cancers 4. WFDC1 expression is downregulated in various cancers including prostate cancer and melanoma, where it appears to function as a tumor suppressor 56. Clinical significance includes potential roles as therapeutic targets and biomarkers for cancer diagnosis and treatment 1.

Sources cited
1
WFDC1 contains four disulfide bonds, exhibits protease inhibitor characteristics, and mediates endothelial cell migration and angiogenesis
PMID: 33615507
2
ps20 was characterized as a growth inhibitory activity secreted by fetal cells and functions as a matricellular protein
PMID: 21936833
3
WFDC1 modulates inflammatory and repair responses via osteopontin and MMP-9 regulation, with null mice showing enhanced wound healing
PMID: 25219356
4
WFDC1 maps to chromosome 16q24, a region of frequent loss of heterozygosity in multiple cancers
PMID: 10967136
5
WFDC1 is downregulated in prostate cancer and expressed predominantly in normal prostate stroma
PMID: 15305342
6
WFDC1 expression is reduced in melanoma and functions as a tumor suppressor when overexpressed
PMID: 19488830
Disease Associationsⓘ20
major salivary gland cancerOpen Targets
0.31Weak
neurodegenerative diseaseOpen Targets
0.31Weak
musculoskeletal system diseaseOpen Targets
0.31Weak
VertigoOpen Targets
0.27Weak
infectionOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.06Suggestive
posterior cortical atrophyOpen Targets
0.05Suggestive
prostate cancerOpen Targets
0.05Suggestive
Barrett's esophagusOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
neuroendocrine neoplasmOpen Targets
0.03Suggestive
adrenal cortex carcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
Acute hepatic failureOpen Targets
0.02Suggestive
urinary bladder carcinomaOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
HIV-1 infectionOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MUC12Shared pathway50%OGFRShared pathway50%NAIF1Shared pathway50%ST7LShared pathway50%OSGIN1Shared pathway50%SERTAD3Shared pathway50%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
38%
Liver
30%
Brain
23%
Heart
21%
Ovary
11%
Gene Interaction Network
Click a node to explore
WFDC1MUC12OGFRNAIF1ST7LOSGIN1SERTAD3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9HC57
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.71LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.31 [1.01–1.71]
RankingsWhere WFDC1 stands among ~20K protein-coding genes
  • #12,706of 20,598
    Most Researched27
  • #16,128of 17,882
    Most Constrained (LOEUF)1.71
Genes detectedWFDC1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Molecular structure, gene expression and functional role of WFDC1 in angiogenesis and cancer.
PMID: 33615507
Cell Biochem Funct · 2021
1.00
2
Comprehensive transcriptional atlas of human adenomyosis deciphered by the integration of single-cell RNA-sequencing and spatial transcriptomics.
PMID: 38486356
Protein Cell · 2024
0.90
3
The WFDC1 gene: role in wound response and tissue homoeostasis.
PMID: 21936833
Biochem Soc Trans · 2011
0.80
4
The WFDC1 gene encoding ps20 localizes to 16q24, a region of LOH in multiple cancers.
PMID: 10967136
Mamm Genome · 2000
0.70
5
WFDC1 is a key modulator of inflammatory and wound repair responses.
PMID: 25219356
Am J Pathol · 2014
0.60