DEFB107A: Defensin Beta 107A – Antimicrobial Peptide Gene
A beta-defensin gene encoding an antimicrobial peptide involved in host defense, with potential roles in immune response and epithelial barrier function.
Gene Information Card
| Symbol | DEFB107A |
|---|---|
| Full Name | Defensin Beta 107A |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 503618 ncbi.nlm.nih.gov/gene/503618 |
| Ensembl ID | ENSG00000188312 |
| UniProt ID | Q8N688 |
| OMIM ID | 612346 |
| HGNC ID | 18198 |
| Aliases | DEFB107, hBD-107, beta-defensin 107 |
Description
DEFB107A encodes a beta-defensin, a small cationic antimicrobial peptide that plays a role in innate immunity by disrupting microbial membranes. It is part of the defensin gene cluster on chromosome 8p23.1, which is known for copy number variation and association with inflammatory and infectious diseases. Expression is primarily in epithelial tissues, and the peptide exhibits broad-spectrum antimicrobial activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Infectious diseases (e.g., bacterial infections) | Antimicrobial activity against pathogens; reduced expression may increase susceptibility | PubMed: 14500701 (defensin family role) |
| Inflammatory skin disorders (e.g., psoriasis) | Overexpression of beta-defensins in psoriatic skin; DEFB107A may contribute to inflammation | PubMed: 15703228 (beta-defensin in psoriasis) |
| Chronic obstructive pulmonary disease (COPD) | Altered defensin expression in airway epithelium; potential role in host defense | PubMed: 17975205 (defensins in COPD) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | Not available | Low expression (based on GTEx, but not specific) |
| Lung | Not available | Moderate expression in airway epithelium |
| Testis | Not available | Expression reported in testis (UniProt) |
| Kidney | Not available | Low expression |
| Gastrointestinal tract | Not available | Expression in intestinal epithelium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Keratinocytes | Not available | Induced by inflammatory stimuli |
| Bronchial epithelial cells | Not available | Constitutive and inducible expression |
| Intestinal epithelial cells (Caco-2) | Not available | Expression may be modulated by microbiota |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2738047 | SNP (intronic) | Minor allele frequency ~0.2 (1000 Genomes) | Potential effect on expression; not well characterized |
| Copy number variants (CNVs) | Structural variant | Variable in population | Associated with altered defensin gene dosage; may influence disease susceptibility |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in DEFB107A are not well documented; however, reduced expression due to CNV loss may impair antimicrobial defense.
Gain of Function (GOF)
Gain-of-function mutations are not reported; overexpression in certain tissues may contribute to inflammatory pathology.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Innate Immune System (Reactome: R-HSA-168249)
• Antimicrobial peptides (Reactome: R-HSA-6798695)
Protein Summary
DEFB107A encodes a 67-amino acid preproprotein that is processed into a mature defensin peptide. The mature peptide contains six conserved cysteine residues forming three disulfide bonds, characteristic of beta-defensins. It is secreted and exhibits antimicrobial activity against Gram-positive and Gram-negative bacteria, as well as fungi. The peptide is cationic and amphipathic, enabling membrane disruption. Expression is regulated by inflammatory cytokines and bacterial products.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEFB107A Knockout HEK293 Cell Line | EDJ-KQ11508 | Human | 245910 | Details Get a Quote |
| DEFB107A Knockout HeLa Cell Line | EDJ-KQ59211 | Human | 245910 | Details Get a Quote |
| DEFB107A Knockout A-549 Cell Line | EDJ-KQ67679 | Human | 245910 | Details Get a Quote |
| DEFB107A Knockout HCT 116 Cell Line | EDJ-KQ76063 | Human | 245910 | Details Get a Quote |
