4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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12PubMed Papers
5Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
protein bindingserine-type endopeptidase inhibitor activityantibacterial humoral responseinnate immune responseCholecystitisAbnormality of the gastrointestinal tractAbnormality of the genital systemgenetic disorder
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.
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: 396657562
WFDC9 is expressed as a region-specific gene in the male reproductive tract and shows age-related transcriptome changes
PMID: 352114763
WFDC9 is an epididymis-specific gene present in epididymosomes and sperm
PMID: 378470804
WFDC9 is an epididymis-specific seminal plasma mRNA biomarker whose levels increase after scrotal heat stress
PMID: 27368750β Limited data available β This gene has 4 indexed publications. Summary and analysis may be incomplete.
CholecystitisOpen Targets
Abnormality of the gastrointestinal tractOpen Targets
Abnormality of the genital systemOpen Targets
genetic disorderOpen Targets
acute myeloid leukemiaOpen Targets
No pathogenic variants reported on ClinVar for this gene.