DEFB127: Defensin Beta 127
A beta-defensin gene involved in antimicrobial host defense and potential roles in cancer and inflammation.
Gene Information Card
| Symbol | DEFB127 |
|---|---|
| Full Name | Defensin Beta 127 |
| Gene Type | protein-coding |
| Chromosomal Location | 20p13 |
| NCBI Gene ID | 140850 ncbi.nlm.nih.gov/gene/140850 |
| Ensembl ID | ENSG00000188312 |
| UniProt ID | Q8N688 |
| OMIM ID | 614430 |
| HGNC ID | 18101 |
| Aliases | DEFB-27, DEFB27, hBD-27, beta-defensin 127 |
Description
DEFB127 encodes a member of the beta-defensin family of antimicrobial peptides. These peptides are characterized by a conserved beta-sheet structure stabilized by disulfide bonds and are involved in the innate immune response against bacteria, fungi, and viruses. DEFB127 is expressed in various epithelial tissues and may also play roles in reproduction and cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | Potential tumor suppressor; reduced expression may promote tumor progression | PMID: 21947070 |
| Inflammatory Bowel Disease | Altered defensin expression linked to mucosal barrier dysfunction | PMID: 16954436 |
| Chronic Obstructive Pulmonary Disease (COPD) | Defensin dysregulation contributes to airway inflammation | PMID: 21814540 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Prostate | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | Not detected |
| HeLa | 0.0 | Not detected |
| A549 | 0.0 | Not detected |
| MCF7 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • defense response to bacterium (GO:0042742) |
| • defense response to fungus (GO:0050832) | • killing of cells of other organism (GO:0031640) |
Pathways
• Innate Immune System (Reactome: R-HSA-168249)
• Antimicrobial peptides (Reactome: R-HSA-6803157)
Protein Summary
Defensin beta 127 is a small, cationic antimicrobial peptide with a characteristic beta-defensin fold. It is secreted and acts by disrupting microbial membranes. The protein is encoded by the DEFB127 gene located on chromosome 20p13.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEFB127 Knockout HEK293 Cell Line | EDJ-KQ9820 | Human | 140850 | Details Get a Quote |
| DEFB127 Knockout HeLa Cell Line | EDJ-KQ58463 | Human | 140850 | Details Get a Quote |
| DEFB127 Knockout A-549 Cell Line | EDJ-KQ66950 | Human | 140850 | Details Get a Quote |
| DEFB127 Knockout HCT 116 Cell Line | EDJ-KQ75352 | Human | 140850 | Details Get a Quote |
