DEFB106A: Human Beta-Defensin 106A, an Antimicrobial Peptide Gene
A comprehensive biomedical overview of DEFB106A, including genomic context, expression, disease associations, and functional annotations.
Gene Information Card
| Symbol | DEFB106A |
|---|---|
| Full Name | Defensin Beta 106A |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 245910 ncbi.nlm.nih.gov/gene/245910 |
| Ensembl ID | ENSG00000198141 |
| UniProt ID | Q5J5C9 |
| OMIM ID | 612731 |
| HGNC ID | 32371 |
| Aliases | DEFB-6, DEFB106, hBD-6, beta-defensin 6 |
Description
DEFB106A 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 innate immune defense against bacteria, fungi, and viruses. DEFB106A is part of a cluster of defensin genes on chromosome 8p23.1, a region known for copy number variation. The protein is secreted and exhibits broad-spectrum antimicrobial activity, particularly in epithelial tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Infectious diseases (e.g., bacterial infections) | Antimicrobial peptide activity; reduced expression may increase susceptibility to infections. | Inferred from functional studies of beta-defensins; direct disease association not fully established. |
| Inflammatory skin disorders (e.g., psoriasis) | Overexpression of beta-defensins in skin lesions; potential role in inflammation. | Expression studies show upregulation in psoriatic skin; causal link not confirmed. |
| Cystic fibrosis (CF) | Defensins are part of airway innate immunity; altered expression may affect bacterial colonization. | Expression studies in CF lung tissue; mechanism inferred. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not detected |
| Skin | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Small Intestine | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not expressed |
| A549 | 0.0 | Not expressed |
| MCF7 | 0.0 | Not expressed |
| K562 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2738047 | SNV (intronic) | Not available | No known functional effect |
| rs2738048 | SNV (intronic) | Not available | No known functional effect |
Mutation functional classification
Loss of Function (LOF)
No specific loss-of-function mutations have been reported for DEFB106A in major databases.
Gain of Function (GOF)
No gain-of-function mutations have been documented.
Dominant Negative (DN)
No dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Innate Immune System (Reactome: R-HSA-168249)
• Antimicrobial peptides (Reactome: R-HSA-6803157)
Protein Summary
DEFB106A is a small, secreted cationic peptide of approximately 8 kDa, containing six conserved cysteine residues that form three disulfide bonds, characteristic of beta-defensins. It is produced as a preproprotein and cleaved to yield the mature active peptide. The peptide exhibits antimicrobial activity by disrupting microbial membranes. Expression is primarily in epithelial tissues, though basal expression is low in many tissues. It is part of the defensin gene cluster on chromosome 8p23.1, which shows copy number variation among individuals.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEFB106A Knockout HEK293 Cell Line | EDJ-KQ11505 | Human | 245909 | Details Get a Quote |
| DEFB106A Knockout HeLa Cell Line | EDJ-KQ38491 | Human | 245909 | Details Get a Quote |
| DEFB106A Knockout A-549 Cell Line | EDJ-KQ39831 | Human | 245909 | Details Get a Quote |
| DEFB106A Knockout HCT 116 Cell Line | EDJ-KQ39832 | Human | 245909 | Details Get a Quote |
