EDDM3A
Epididymal Protein 3A
Gene Information Card
| Symbol | EDDM3A |
|---|---|
| Full Name | Epididymal Protein 3A |
| Gene Type | Protein coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 123720 ncbi.nlm.nih.gov/gene/123720 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9BSG0 |
| OMIM ID | 609960 |
| HGNC ID | 25241 |
| Aliases | HE3A, HE3-ALPHA, EDDM3 |
Description
EDDM3A (Epididymal Protein 3A) is a protein-coding gene located on chromosome 14q24.3. It encodes a member of the beta-defensin family and is predominantly expressed in the epididymis. The protein is involved in sperm maturation and male fertility. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Sperm maturation defect | Expression studies in human epididymis (NCBI Gene) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Epididymis | 112.5 | High |
| Testis | 5.2 | Low |
| Prostate | 2.1 | Low |
| Fallopian tube | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 0.0 | No expression |
| HeLa | 0.0 | No expression |
| K562 | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | SNV | <0.01% | Likely benign (ClinVar) |
| c.123C>T | Missense | <0.01% | Uncertain significance (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
Not reported in COSMIC or ClinVar for EDDM3A.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • defense response to bacterium | • innate immune response |
| • sperm capacitation | • extracellular region |
Pathways
• Defensins (Reactome R-HSA-1461973)
Protein Summary
EDDM3A encodes a 94-amino acid protein belonging to the beta-defensin family. The protein contains a signal peptide and a defensin-like domain. It is secreted into the epididymal lumen and binds to spermatozoa, contributing to sperm maturation and protection against microbial infection. UniProt ID: Q9BSG0.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EDDM3A Knockout HEK293 Cell Line | EDJ-KQ7201 | Human | 10876 | Details Get a Quote |
| EDDM3A Knockout HeLa Cell Line | EDJ-KQ55508 | Human | 10876 | Details Get a Quote |
| EDDM3A Knockout A-549 Cell Line | EDJ-KQ63998 | Human | 10876 | Details Get a Quote |
| EDDM3A Knockout HCT 116 Cell Line | EDJ-KQ72449 | Human | 10876 | Details Get a Quote |
