DEFB114: Defensin Beta 114
A beta-defensin gene involved in antimicrobial host defense and potential roles in immune modulation.
Gene Information Card
| Symbol | DEFB114 |
|---|---|
| Full Name | Defensin Beta 114 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p12.3 |
| NCBI Gene ID | 100289645 ncbi.nlm.nih.gov/gene/100289645 |
| Ensembl ID | ENSG00000205542 |
| UniProt ID | Q5JQC9 |
| OMIM ID | 614420 |
| HGNC ID | 40037 |
| Aliases | DEFB-14, DEFB114A, hBD-14 |
Description
DEFB114 encodes a member of the beta-defensin family of antimicrobial peptides. Beta-defensins are produced by epithelial cells and leukocytes, playing a key role in innate immunity by disrupting microbial membranes. DEFB114 is expressed in various tissues and may contribute to host defense against pathogens and modulation of inflammatory responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic obstructive pulmonary disease (COPD) | Altered defensin expression may impair airway antimicrobial defense | PMID: 22936706 |
| Cystic fibrosis | Reduced beta-defensin activity may contribute to chronic lung infections | PMID: 17028129 |
| Inflammatory bowel disease | Dysregulated defensin expression linked to gut mucosal immunity | PMID: 16954436 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 0.8 | Low |
| Skin | 0.5 | Low |
| Testis | 0.3 | Low |
| Trachea | 0.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung epithelial) | 0.4 | Low expression |
| HaCaT (keratinocyte) | 0.3 | Low expression |
| Caco-2 (intestinal) | 0.2 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1135420 | SNP | 0.01 (global) | Non-coding; potential regulatory effect |
| rs17881230 | SNP | 0.005 | Intronic; unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • defense response (GO:0006952) | • defense response to bacterium (GO:0042742) |
| • killing of cells of other organism (GO:0031640) | • extracellular region (GO:0005576) |
Pathways
• Antimicrobial peptides (Reactome: R-HSA-6803157)
• Innate Immune System (Reactome: R-HSA-168249)
Protein Summary
Defensin beta 114 is a small, cationic antimicrobial peptide of approximately 8-10 kDa. It contains the characteristic beta-defensin motif with six conserved cysteine residues forming three disulfide bridges. The protein is secreted and acts by disrupting microbial membranes, contributing to innate immune defense at epithelial surfaces.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DEFB114 Knockout HEK293 Cell Line | EDJ-KQ10840 | Human | 245928 | Details Get a Quote |
| DEFB114 Knockout HeLa Cell Line | EDJ-KQ59215 | Human | 245928 | Details Get a Quote |
| DEFB114 Knockout A-549 Cell Line | EDJ-KQ67683 | Human | 245928 | Details Get a Quote |
| DEFB114 Knockout HCT 116 Cell Line | EDJ-KQ76067 | Human | 245928 | Details Get a Quote |
