EPPIN (Epididymal Peptidase Inhibitor)
A key sperm surface protein involved in male fertility and a potential contraceptive target
Gene Information Card
| Symbol | EPPIN |
|---|---|
| Full Name | Epididymal Peptidase Inhibitor |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.12 |
| NCBI Gene ID | 57167 ncbi.nlm.nih.gov/gene/57167 |
| Ensembl ID | ENSG00000101204 |
| UniProt ID | O95925 |
| OMIM ID | 609031 |
| HGNC ID | 15973 |
| Aliases | CTRL, SPINLW1, WAP7, WFDC8 |
Description
EPPIN (Epididymal Peptidase Inhibitor) is a protein-coding gene located on chromosome 20q13.12. It encodes a serine protease inhibitor belonging to the WFDC (WAP four-disulfide core) family. EPPIN is primarily expressed in the male reproductive tract, including the epididymis, testis, and prostate. The protein is secreted and binds to the sperm surface, where it plays a critical role in sperm motility and capacitation. EPPIN interacts with semenogelin, a seminal vesicle protein, and is a key target for non-hormonal male contraceptive development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | EPPIN dysfunction impairs sperm motility and capacitation, leading to reduced fertility | PMID: 17200106 |
| Prostate cancer | EPPIN expression is altered in prostate cancer tissues, suggesting a role in tumor progression | PMID: 20053738 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Epididymis | 8.2 | Medium |
| Prostate | 6.1 | Low |
| Seminal vesicle | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LNCaP (prostate cancer) | 3.5 | Androgen-responsive cell line |
| PC-3 (prostate cancer) | 2.1 | Androgen-independent cell line |
| HeLa (cervical cancer) | 0.5 | Negative control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.197C>T (p.Pro66Leu) | Missense | 0.01% | Reduced binding to semenogelin |
| c.304G>A (p.Glu102Lys) | Missense | 0.005% | Altered protease inhibitor activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Pro66Leu) reduce EPPIN's ability to bind semenogelin, impairing sperm function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Sperm capacitation and fertilization
• Prostate cancer signaling
Protein Summary
The EPPIN protein is a 133-amino acid secreted serine protease inhibitor containing a WAP domain. It is expressed in the male reproductive tract and binds to the sperm surface. EPPIN inhibits serine proteases involved in semen liquefaction and sperm capacitation. Its interaction with semenogelin is critical for maintaining sperm in a quiescent state until ejaculation. Due to its essential role in fertility, EPPIN is a promising target for non-hormonal male contraceptives.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EPPIN Knockout HEK293 Cell Line | EDJ-KQ51556 | Human | 57119 | Details Get a Quote |
| EPPIN-WFDC6 Knockout HEK293 Cell Line | EDJ-KQ52475 | Human | 100526773 | Details Get a Quote |
| EPPIN Knockout HeLa Cell Line | EDJ-KQ56807 | Human | 57119 | Details Get a Quote |
| EPPIN-WFDC6 Knockout HeLa Cell Line | EDJ-KQ60938 | Human | 100526773 | Details Get a Quote |
| EPPIN Knockout A-549 Cell Line | EDJ-KQ65314 | Human | 57119 | Details Get a Quote |
| EPPIN-WFDC6 Knockout A-549 Cell Line | EDJ-KQ69413 | Human | 100526773 | Details Get a Quote |
| EPPIN Knockout HCT 116 Cell Line | EDJ-KQ73753 | Human | 57119 | Details Get a Quote |
| EPPIN-WFDC6 Knockout HCT 116 Cell Line | EDJ-KQ77764 | Human | 100526773 | Details Get a Quote |
