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GeneE
4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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WFDC8
WAP four-disulfide core domain 8
Chromosome 20 · 20q13.12
NCBI Gene: 90199Ensembl: ENSG00000158901.12HGNC: HGNC:16163UniProt: A0A140VK68
7PubMed Papers
6Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
serine-type endopeptidase inhibitor activitypeptidase inhibitor activityextracellular regionneurodegenerative diseaseposterior cortical atrophycancerlung cancer
✦AI Summary

WFDC8 encodes a whey acidic protein four-disulfide core domain protein involved in male reproductive function. WFDC8 is expressed in epididymal epithelial cells, specifically in both principal and clear cells 1, and is transferred to maturing spermatozoa via epididymosomes—extracellular vesicles released by the epididymis that contribute to post-testicular sperm maturation 1. Functionally, WFDC8 is critical for male fertility; CRISPR/Cas9-based deletion studies demonstrated that males lacking WFDC8 (as part of multi-gene deletions including Wfdc6a and Eppin) exhibit sterility due to arrest of spermatogenesis at the round spermatid stage, preventing formation of elongated spermatids 2. Evolutionarily, WFDC8 has been subject to adaptive selection pressures; the gene shows signatures of short-term balancing selection in European populations 3 4, with putative selection-targeted variants such as 44A (rs7273669A) potentially regulating gene expression 4. The WFDC locus broadly participates in antimicrobial, immune, and reproductive homeostasis 3. These findings indicate WFDC8 has important clinical implications for understanding male infertility and identifying potential therapeutic or contraceptive targets.

Sources cited
1
WFDC8 is expressed in epididymal epithelial cells and transferred to spermatozoa through epididymosomes during sperm maturation
PMID: 35137089
2
WFDC8 deletion causes male sterility through arrest of spermatogenesis at round spermatid stage
PMID: 39665756
3
WFDC8 shows evidence of short-term balancing selection in European populations and is part of an evolutionarily adaptive gene locus
PMID: 23292442
4
WFDC8 variant 44A (rs7273669A) is a putative target of selection that may regulate gene expression
PMID: 21536719
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ6
neurodegenerative diseaseOpen Targets
0.31Weak
posterior cortical atrophyOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
WFDC6Protein interaction72%SPINT4Protein interaction72%
Tissue Expression6 tissues
Ovary
100%
Liver
83%
Lung
83%
Brain
42%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
WFDC8WFDC6SPINT4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IUA0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.20LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.61–1.20]
RankingsWhere WFDC8 stands among ~20K protein-coding genes
  • #17,986of 20,598
    Most Researched7
  • #12,636of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedWFDC8
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Sperm acquire epididymis-derived proteins through epididymosomes.
PMID: 35137089
Hum Reprod · 2022
1.00
2
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
0.75
3
Reproduction and immunity-driven natural selection in the human WFDC locus.
PMID: 23292442
Mol 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