DEFB105A
Defensin Beta 105A
Gene Information Card
| Symbol | DEFB105A |
|---|---|
| Full Name | Defensin Beta 105A |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 245908 ncbi.nlm.nih.gov/gene/245908 |
| Ensembl ID | ENSG00000186599 |
| UniProt ID | Q8NG35 |
| OMIM ID | 614420 |
| HGNC ID | 18011 |
| Aliases | DEFB-5, DEFB105, hBD-5, beta-defensin 105A |
Description
DEFB105A encodes a member of the beta-defensin family of antimicrobial peptides. These peptides are produced by epithelial cells and exhibit broad-spectrum antimicrobial activity against bacteria, fungi, and viruses. DEFB105A is primarily expressed in the male reproductive tract and may play a role in host defense and fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Altered expression of beta-defensins may affect sperm maturation and function | PMID: 16968736 |
| Chronic obstructive pulmonary disease (COPD) | Defensin dysregulation contributes to airway inflammation | PMID: 21532038 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Epididymis | 8.3 | Low |
| Prostate | 4.1 | Low |
| Lung | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.5 | Low expression |
| A549 | 0.8 | Low expression |
| HUVEC | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs113010081 | missense | <0.01% | Unknown functional impact |
| rs148330003 | missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative mechanisms described.
View complete mutation data：
Gene Ontology (GO)
| • defense response to bacterium | • innate immune response |
| • antimicrobial humoral immune response mediated by antimicrobial peptide | • extracellular region |
Pathways
• Antimicrobial peptides
• Innate immune system
Protein Summary
Defensin beta 105A is a small, cysteine-rich antimicrobial peptide belonging to the beta-defensin family. It contains a characteristic beta-sheet structure stabilized by three disulfide bonds. The protein is secreted and exhibits broad-spectrum antimicrobial activity, particularly in the male reproductive tract.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEFB105A Knockout HEK293 Cell Line | EDJ-KQ11509 | Human | 245908 | Details Get a Quote |
| DEFB105A Knockout HeLa Cell Line | EDJ-KQ59210 | Human | 245908 | Details Get a Quote |
| DEFB105A Knockout A-549 Cell Line | EDJ-KQ67678 | Human | 245908 | Details Get a Quote |
| DEFB105A Knockout HCT 116 Cell Line | EDJ-KQ76062 | Human | 245908 | Details Get a Quote |
