DEFB112 Gene - Beta-Defensin 112: Function, Expression, and Clinical Relevance
A comprehensive overview of the DEFB112 gene, including genomic context, expression patterns, and disease associations.
Gene Information Card
| Symbol | DEFB112 |
|---|---|
| Full Name | Defensin Beta 112 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 245913 ncbi.nlm.nih.gov/gene/245913 |
| Ensembl ID | ENSG00000188312 |
| UniProt ID | Q30KQ9 |
| OMIM ID | 612531 |
| HGNC ID | 33817 |
| Aliases | DEFB-12, DEFB112, hBD-12 |
Description
DEFB112 encodes beta-defensin 112, 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 primarily involved in innate immune defense. DEFB112 is located in a cluster of defensin genes on chromosome 8p23.1, a region known for copy number variation. The protein is predicted to have antimicrobial activity and may play a role in mucosal immunity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Infectious diseases | Potential antimicrobial activity against pathogens; altered expression may affect susceptibility | Inferred from family function; direct evidence limited |
| Inflammatory conditions | Possible involvement in modulating inflammation via antimicrobial and immunomodulatory roles | Inferred from family function; direct evidence limited |
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 |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | Not detected |
| A549 | 0.0 | Not detected |
| MCF7 | 0.0 | Not detected |
| HEK293 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No common variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No specific loss-of-function mutations have been characterized for DEFB112.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative effects have been described.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • defense response to bacterium (GO:0042742) |
| • defense response (GO:0006952) | • extracellular space (GO:0005615) |
Pathways
• Innate Immune System (Reactome: HSA-168249)
• Antimicrobial peptides (Reactome: HSA-6803157)
Protein Summary
Beta-defensin 112 is a predicted secreted protein with a signal peptide and a defensin domain. It is likely involved in antimicrobial defense, particularly at epithelial surfaces. The protein contains six conserved cysteine residues that form three disulfide bonds, characteristic of beta-defensins. Its expression is low or absent in normal tissues, suggesting a possible role in specific conditions or tissues not yet fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEFB112 Knockout HEK293 Cell Line | EDJ-KQ11507 | Human | 245915 | Details Get a Quote |
| DEFB112 Knockout HeLa Cell Line | EDJ-KQ59214 | Human | 245915 | Details Get a Quote |
| DEFB112 Knockout A-549 Cell Line | EDJ-KQ67682 | Human | 245915 | Details Get a Quote |
| DEFB112 Knockout HCT 116 Cell Line | EDJ-KQ76066 | Human | 245915 | Details Get a Quote |
