WFDC3
WAP Four-Disulfide Core Domain 3: A Putative Protease Inhibitor with Limited Functional Characterization
Gene Information Card
| Symbol | WFDC3 |
|---|---|
| Full Name | WAP Four-Disulfide Core Domain 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 140686 ncbi.nlm.nih.gov/gene/140686 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | Q8IUB2 |
| OMIM ID | 617575 |
| HGNC ID | 15966 |
| Aliases | HE4-V3, WAP14, dJ461P17.6 |
Description
WFDC3 (WAP Four-Disulfide Core Domain 3) is a protein-coding gene located on chromosome 20q13.12. It belongs to the WFDC (WAP four-disulfide core) family, characterized by a conserved domain containing eight cysteine residues forming four disulfide bonds. The encoded protein is predicted to function as a protease inhibitor, though its specific biological roles and substrates remain incompletely understood. WFDC3 is expressed in various tissues, with notable levels in the male reproductive system and respiratory tract.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered WFDC3 expression may contribute to tumor progression through dysregulated protease inhibition; specific mechanism not established. | Limited evidence from expression studies; no direct causal link in ClinVar or OMIM. |
| Male infertility | Potential role in reproductive tract protease balance; WFDC3 expression in epididymis suggests involvement in sperm maturation. | Hypothetical based on expression data; no clinical association reported. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Epididymis | 10.2 | Medium |
| Lung | 8.1 | Low |
| Trachea | 7.4 | Low |
| Prostate | 6.9 | Low |
| Kidney | 5.3 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 6.8 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 2.5 | Low expression |
| PC-3 (prostate adenocarcinoma) | 5.1 | Low expression |
| MCF7 (breast adenocarcinoma) | 1.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Val72Met) | Missense | <0.01% (gnomAD) | Unknown; predicted benign by in silico tools |
| c.89C>T (p.Thr30Ile) | Missense | <0.01% (gnomAD) | Unknown; predicted tolerated |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • endopeptidase inhibitor activity (GO:0004866) | • extracellular region (GO:0005576) |
| • negative regulation of endopeptidase activity (GO:0010951) |
Pathways
• No specific pathways curated in Reactome or KEGG for WFDC3.
Protein Summary
The WFDC3 protein (UniProt Q8IUB2) is a 133-amino acid secreted protein containing a single WAP-type four-disulfide core domain. This domain is characteristic of serine protease inhibitors, such as elafin and SLPI. The protein is predicted to localize to the extracellular space and may regulate proteolytic activity in tissues where it is expressed, particularly the male reproductive tract and respiratory epithelium. Its precise physiological targets and functions remain to be fully elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WFDC3 Knockout HEK293 Cell Line | EDJ-KQ1028 | Human | 140686 | Details Get a Quote |
| WFDC3 Knockout HCT 116 Cell Line | EDJ-KQ20129 | Human | 140686 | Details Get a Quote |
| WFDC3 Knockout HeLa Cell Line | EDJ-KQ58446 | Human | 140686 | Details Get a Quote |
| WFDC3 Knockout A-549 Cell Line | EDJ-KQ66932 | Human | 140686 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
