DEFB115 Gene: Beta-Defensin 115 – Function, Location, and Clinical Relevance
A comprehensive overview of the DEFB115 gene, including its genomic context, expression patterns, and potential implications in human health and disease.
Gene Information Card
| Symbol | DEFB115 |
|---|---|
| Full Name | Defensin Beta 115 |
| Gene Type | protein-coding |
| Chromosomal Location | 20q11.21 |
| NCBI Gene ID | 390318 ncbi.nlm.nih.gov/gene/390318 |
| Ensembl ID | ENSG00000188381 |
| UniProt ID | Q30KQ9 |
| OMIM ID | 618294 |
| HGNC ID | 33878 |
| Aliases | DEFB-15, hBD-15 |
Description
DEFB115 (Defensin Beta 115) is a protein-coding gene located on chromosome 20q11.21. It belongs to the beta-defensin family, which encodes antimicrobial peptides that play a role in the innate immune system. These peptides are characterized by a conserved beta-sheet structure stabilized by disulfide bonds and are known for their broad-spectrum antimicrobial activity against bacteria, fungi, and enveloped viruses. DEFB115 is part of a cluster of defensin genes on chromosome 20, and its expression is primarily observed in the male reproductive tract, suggesting a potential role in reproductive immunity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Male Infertility | Potential role in sperm maturation and protection against pathogens in the epididymis; altered expression may affect fertility. | Expression data from UniProt and NCBI Gene indicate high expression in the epididymis, but direct clinical evidence is limited. |
| Infectious Diseases | As an antimicrobial peptide, DEFB115 may contribute to host defense against urogenital pathogens. | Inferred from the known function of beta-defensins; no specific disease association is curated in ClinVar or OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Epididymis | High | High |
| Testis | Low | Low |
| Skin | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| No data available | N/A | Expression data for DEFB115 in standard cell lines is not available in the queried databases. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| No curated variants | N/A | N/A | No specific mutations are curated in ClinVar or COSMIC for DEFB115. |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been characterized for DEFB115 in the curated databases.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for DEFB115 in the curated databases.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for DEFB115 in the curated databases.
View complete mutation data：
Gene Ontology (GO)
| • defense response to bacterium | • defense response to fungus |
| • innate immune response | • membrane |
| • extracellular region |
Pathways
• Innate Immune System
• Antimicrobial peptides
Protein Summary
The DEFB115 protein is a predicted secreted beta-defensin peptide. It contains a signal peptide and a mature peptide domain with the conserved six-cysteine motif characteristic of beta-defensins. This structure allows the formation of three disulfide bonds, which are essential for its antimicrobial activity. The protein is predicted to be cationic and amphipathic, enabling it to interact with and disrupt microbial membranes. Its expression in the epididymis suggests a role in protecting sperm from microbial infection and potentially in sperm maturation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEFB115 Knockout HEK293 Cell Line | EDJ-KQ11512 | Human | 245929 | Details Get a Quote |
| DEFB115 Knockout HeLa Cell Line | EDJ-KQ59216 | Human | 245929 | Details Get a Quote |
| DEFB115 Knockout A-549 Cell Line | EDJ-KQ67684 | Human | 245929 | Details Get a Quote |
| DEFB115 Knockout HCT 116 Cell Line | EDJ-KQ76068 | Human | 245929 | Details Get a Quote |
