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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
WFDC9
WAP four-disulfide core domain 9
Chromosome 20 Β· 20q13.12
NCBI Gene: 259240Ensembl: ENSG00000180205.4HGNC: HGNC:20380UniProt: Q8NEX5
12PubMed Papers
5Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingserine-type endopeptidase inhibitor activityantibacterial humoral responseinnate immune responseCholecystitisAbnormality of the gastrointestinal tractAbnormality of the genital systemgenetic disorder
✦AI Summary

WFDC9 is a reproductive tract-specific gene encoding a member of the whey acidic protein four-disulfide core domain family. It functions as a serine-type endopeptidase inhibitor with roles in innate immune response and antibacterial humoral defense 1. In the male reproductive system, WFDC9 is expressed in the epididymis and is present in epididymosomes, extracellular vesicles that deliver cargo between reproductive tissues 2. Functionally, WFDC9 is critical for male fertility: mice with targeted deletion of Wfdc9 (as part of a five-gene knockout cluster) maintain normal spermatogenesis and sperm counts but exhibit severe infertility due to defects in sperm motility and increased sperm death 1. WFDC9 expression is region-specific within the male reproductive tract and changes with reproductive aging 3. Clinically, WFDC9 mRNA levels in seminal plasma can serve as an epididymis-specific biomarker, though measurements are sensitive to scrotal heat stress and may be relevant for diagnosing male infertility 4. These findings suggest WFDC9 as a potential target for understanding male reproductive pathology and developing diagnostic tools for fertility assessment.

Sources cited
1
WFDC9 knockout mice show infertility due to sperm motility defects and increased sperm death despite normal spermatogenesis, and WFDC genes function in male reproductive tract
PMID: 39665756
2
WFDC9 is expressed as a region-specific gene in the male reproductive tract and shows age-related transcriptome changes
PMID: 35211476
3
WFDC9 is an epididymis-specific gene present in epididymosomes and sperm
PMID: 37847080
4
WFDC9 is an epididymis-specific seminal plasma mRNA biomarker whose levels increase after scrotal heat stress
PMID: 27368750
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜5
CholecystitisOpen Targets
0.06Suggestive
Abnormality of the gastrointestinal tractOpen Targets
0.05Suggestive
Abnormality of the genital systemOpen Targets
0.02Suggestive
genetic disorderOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
WFDC3Shared pathway100%WFDC10AShared pathway100%WFDC5Shared pathway100%WFDC11Shared pathway100%WFDC10BShared pathway100%WFDC13Protein interaction77%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
WFDC9WFDC3WFDC10AWFDC5WFDC11WFDC10BWFDC13
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8NEX5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.60LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.93 [0.56–1.60]
RankingsWhere WFDC9 stands among ~20K protein-coding genes
  • #16,621of 20,598
    Most Researched12
  • #15,672of 17,882
    Most Constrained (LOEUF)1.60
Genes detectedWFDC9
Sources retrieved4 papers
Response timeβ€”
πŸ“„ 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 Β· 2024
1.00
2
Anatomical Transcriptome Atlas of the Male Mouse Reproductive System During Aging.
PMID: 35211476
Front Cell Dev Biol Β· 2021
0.75
3
[Delivery of epididymis-specific mRNAs from mouse epididymosomes into N2a and TM4 cells].
PMID: 37847080
Zhonghua Nan Ke Xue Β· 2023
0.50
4
Potential confounding factors in measurement of specific cell-free seminal mRNAs and microRNAs derived from human reproductive organs.
PMID: 27368750
Andrology Β· 2016
0.25