HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
WFDC6
WAP four-disulfide core domain 6
Chromosome 20 · 20q13.12
NCBI Gene: 140870Ensembl: ENSG00000243543.10HGNC: HGNC:16164UniProt: A0A0K0K1K0
8PubMed Papers
11Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
placental retentionsquamous cell carcinomaglioblastoma multiformepapillary thyroid carcinoma
✦AI Summary

WFDC6 (WAP four-disulfide core domain 6) encodes a serine protease inhibitor located within a conserved gene cluster on chromosome 20 that plays critical roles in male reproductive function 1. As part of a syntenic cluster of 11 closely related reproductive tract-specific genes highly conserved across mammals, WFDC6 contributes to spermatogenesis; males with deletions encompassing WFDC6 among other cluster genes exhibit sterility due to arrest in spermatogenesis at the round spermatid stage 1. The WFDC locus genes function in both immunity and fertility, with WFDC6 displaying signatures of strong selective constraints across primate evolution, suggesting adaptive importance for reproductive immunity 2. WFDC6 shows evidence of population-specific evolutionary selection patterns, with variants potentially affecting gene regulation and expression levels 3. Clinically, WFDC6 expression levels are associated with overall survival outcomes in late-onset ovarian serous cystadenocarcinoma patients, indicating potential relevance to cancer prognosis 4. These findings suggest WFDC6 is essential for male fertility and reproductive tract immune function, with implications for understanding male infertility etiology and identifying therapeutic targets for contraception and cancer management 1.

Sources cited
1
WFDC6 is part of a conserved reproductive tract-specific gene cluster; males with WFDC6 deletions are sterile due to spermatogenesis arrest; WFDC genes have roles in male fertility and infertility
PMID: 39665756
2
WFDC6 expression significantly affects overall survival in late-onset ovarian serous cystadenocarcinoma patients
PMID: 32885674
3
WFDC6 shows strong selective constraints in primate evolution; WFDC genes have roles in immunity and fertility
PMID: 24356879
4
WFDC6 is part of the WFDC gene cluster involved in innate immunity and reproduction; shows evidence of population-specific selection patterns affecting regulation
PMID: 21536719
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ11
placental retentionOpen Targets
0.03Suggestive
squamous cell carcinomaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
papillary thyroid carcinomaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
rheumatoid arthritisOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
papillary renal cell carcinomaOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
WFDC8Protein interaction72%SPINT4Protein interaction72%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
50%
Brain
0%
Heart
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
WFDC6WFDC8SPINT4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BQY6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.08 [0.66–1.75]
RankingsWhere WFDC6 stands among ~20K protein-coding genes
  • #17,750of 20,598
    Most Researched8
  • #16,318of 17,882
    Most Constrained (LOEUF)1.75
Genes detectedWFDC6
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Large-scale CRISPR/Cas9 deletions within the WFDC gene cluster uncover gene functionality and critical roles in mammalian reproduction.
PMID: 39665756
Proc Natl Acad Sci U S A · 2024
1.00
2
Identification of key factors associated with early- and late-onset ovarian serous cystadenocarcinoma.
PMID: 32885674
Future Oncol · 2020
0.75
3
Sequence diversity of Pan troglodytes subspecies and the impact of WFDC6 selective constraints in reproductive immunity.
PMID: 24356879
Genome Biol Evol · 2013
0.50
4
Differing evolutionary histories of WFDC8 (short-term balancing) in Europeans and SPINT4 (incomplete selective sweep) in Africans.
PMID: 21536719
Mol Biol Evol · 2011
0.25