DEFB129: Defensin Beta 129
A beta-defensin gene involved in antimicrobial host defense and potential roles in immune modulation.
Gene Information Card
| Symbol | DEFB129 |
|---|---|
| Full Name | Defensin Beta 129 |
| Gene Type | Protein coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 140883 ncbi.nlm.nih.gov/gene/140883 |
| Ensembl ID | ENSG00000188312 |
| UniProt ID | Q8N688 |
| OMIM ID | 614430 |
| HGNC ID | 18102 |
| Aliases | DEFB-29, DEFB29, beta-defensin 129 |
Description
DEFB129 (Defensin Beta 129) is a protein-coding gene belonging to the beta-defensin family of antimicrobial peptides. Beta-defensins are small cationic peptides that play a key role in innate immunity by disrupting microbial membranes and modulating immune responses. DEFB129 is expressed in various epithelial tissues and is implicated in host defense against pathogens, particularly in the respiratory and reproductive tracts.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic obstructive pulmonary disease (COPD) | Altered defensin expression may impair mucosal immunity and contribute to chronic inflammation. | NCBI Gene, PubMed |
| Asthma | Beta-defensins modulate airway inflammation; DEFB129 variants may influence susceptibility. | NCBI Gene, PubMed |
| Infertility (male) | Defensins are expressed in the male reproductive tract; DEFB129 may affect sperm function. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Low |
| Trachea | 6.1 | Low |
| Prostate | 4.7 | Low |
| Skin | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 5.1 | Basal expression |
| HeLa (cervical carcinoma) | 2.8 | Low expression |
| HepG2 (hepatocellular carcinoma) | 1.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs11362 | SNP | 0.15 (global) | May alter peptide charge and antimicrobial activity |
| rs1800972 | SNP | 0.08 (global) | Associated with altered expression levels |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • killing of cells of another organism (GO:0031640) |
| • defense response to bacterium (GO:0042742) | • defense response to fungus (GO:0050832) |
Pathways
• Antimicrobial peptides (Reactome: R-HSA-6803157)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
Beta-defensin 129 is a small, cationic antimicrobial peptide of approximately 5-6 kDa. It contains the characteristic beta-defensin motif with six cysteine residues forming three disulfide bonds. The protein is secreted and acts by disrupting microbial membranes, contributing to innate immune defense in epithelial surfaces.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEFB129 Knockout HEK293 Cell Line | EDJ-KQ9826 | Human | 140881 | Details Get a Quote |
| DEFB129 Knockout HeLa Cell Line | EDJ-KQ58470 | Human | 140881 | Details Get a Quote |
| DEFB129 Knockout A-549 Cell Line | EDJ-KQ66957 | Human | 140881 | Details Get a Quote |
| DEFB129 Knockout HCT 116 Cell Line | EDJ-KQ75358 | Human | 140881 | Details Get a Quote |
