DEFB126: Beta-Defensin 126 Gene
A key gene in male fertility and antimicrobial defense
Gene Information Card
| Symbol | DEFB126 |
|---|---|
| Full Name | Defensin Beta 126 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 81623 ncbi.nlm.nih.gov/gene/81623 |
| Ensembl ID | ENSG00000125788 |
| UniProt ID | Q9BYW3 |
| OMIM ID | 608137 |
| HGNC ID | 16194 |
| Aliases | DEFB-26, DEFB26, b-defensin 126, epididymal secretory protein 13.2 |
Description
DEFB126 encodes beta-defensin 126, a member of the beta-defensin family of antimicrobial peptides. This protein is primarily expressed in the epididymis and coats the surface of spermatozoa, playing a critical role in sperm motility, capacitation, and protection against microbial infection. It is also involved in the innate immune response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Deficiency or mutation in DEFB126 impairs sperm penetration of cervical mucus and reduces fertility | ClinVar, OMIM |
| Asthenozoospermia | Loss of DEFB126 function leads to reduced sperm motility and abnormal capacitation | NCBI, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Epididymis | 125.3 | High |
| Testis | 10.2 | Medium |
| Prostate | 3.1 | Low |
| Trachea | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.8 | Low expression |
| HeLa | 0.5 | Not detected |
| Spermatozoa | N/A | Surface protein, not mRNA |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | Reduced protein function |
| c.374C>T | Nonsense | 0.005% | Premature stop, loss of function |
| c.502_504del | Frameshift | 0.002% | Loss of protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent DEFB126 protein, impairing sperm function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for DEFB126.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Antimicrobial peptides (Reactome: R-HSA-6803157)
• Innate Immune System (Reactome: R-HSA-168249)
Protein Summary
Beta-defensin 126 is a 111-amino acid secreted protein containing a signal peptide and a beta-defensin domain. It is highly glycosylated and forms a coat on spermatozoa, facilitating their transit through cervical mucus. The protein exhibits broad-spectrum antimicrobial activity against bacteria and fungi.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEFB126 Knockout HEK293 Cell Line | EDJ-KQ9730 | Human | 81623 | Details Get a Quote |
| DEFB126 Knockout HeLa Cell Line | EDJ-KQ57400 | Human | 81623 | Details Get a Quote |
| DEFB126 Knockout A-549 Cell Line | EDJ-KQ65908 | Human | 81623 | Details Get a Quote |
| DEFB126 Knockout HCT 116 Cell Line | EDJ-KQ74334 | Human | 81623 | Details Get a Quote |
