DEFB113: Defensin Beta 113
A beta-defensin gene involved in antimicrobial host defense and potential roles in immune modulation.
Gene Information Card
| Symbol | DEFB113 |
|---|---|
| Full Name | Defensin Beta 113 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p12.3 |
| NCBI Gene ID | 100289579 ncbi.nlm.nih.gov/gene/100289579 |
| Ensembl ID | ENSG00000205562 |
| UniProt ID | Q5JQC9 |
| OMIM ID | None |
| HGNC ID | HGNC:40005 |
| Aliases | DEFB-13, DEFB113A, DEFB113B |
Description
DEFB113 encodes a member of the beta-defensin family of antimicrobial peptides. Beta-defensins are small cationic peptides that exhibit broad-spectrum antimicrobial activity against bacteria, fungi, and enveloped viruses. They are primarily expressed in epithelial tissues and play a role in innate immune defense. DEFB113 is located in a cluster of beta-defensin genes on chromosome 6p12.3.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| None reported | No known disease association | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.3 | Low |
| Lung | 0.1 | Low |
| Testis | 0.2 | Low |
| Prostate | 0.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Keratinocytes | 0.2 | Low expression |
| Bronchial epithelial cells | 0.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No variants in COSMIC | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • defense response to bacterium (GO:0042742) |
| • defense response to fungus (GO:0050832) |
Pathways
• Innate Immune System (Reactome: R-HSA-168249)
Protein Summary
Defensin beta 113 is a predicted secreted antimicrobial peptide. It contains the characteristic beta-defensin motif with six cysteine residues forming three disulfide bonds. Its specific antimicrobial spectrum and physiological functions remain largely uncharacterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEFB113 Knockout HEK293 Cell Line | EDJ-KQ11511 | Human | 245927 | Details Get a Quote |
| DEFB113 Knockout A-549 Cell Line | EDJ-KQ39833 | Human | 245927 | Details Get a Quote |
| DEFB113 Knockout HCT 116 Cell Line | EDJ-KQ39834 | Human | 245927 | Details Get a Quote |
| DEFB113 Knockout HeLa Cell Line | EDJ-KQ39835 | Human | 245927 | Details Get a Quote |
