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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DEFB118
defensin beta 118
Chromosome 20 · 20q11.21
NCBI Gene: 117285Ensembl: ENSG00000131068.4HGNC: HGNC:16196UniProt: A0A384MTK2
17PubMed Papers
8Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lipopolysaccharide bindingprotein bindingmembrane destabilizing activitynegative regulation of lipopolysaccharide-mediated signaling pathwayneurodegenerative diseaseliver diseaseadolescent idiopathic scoliosisgastric cancer
✦AI Summary

DEFB118 (defensin beta 118) is a host defense peptide expressed predominantly in the male reproductive tract that functions as a multifaceted antimicrobial and immunoregulatory protein 1. The peptide exhibits broad-spectrum antimicrobial activity against both Gram-negative bacteria (E. coli, S. typhimurium) and Gram-positive bacteria (S. aureus, B. subtilis) with minimum inhibitory concentrations of 4 μg/mL 2. Mechanistically, DEFB118 kills bacteria through rapid permeabilization of both outer and inner membranes, causing striking morphological alterations visible by electron microscopy, while sparing eukaryotic cell membranes 1. Beyond direct antimicrobial effects, DEFB118 binds lipopolysaccharides (LPS) with high affinity (KD: 2.94 nM), preventing LPS-mediated inflammatory signaling and reducing production of pro-inflammatory cytokines (IL-6, TNF-α, IL-1β) 3. DEFB118 also inhibits E. coli adhesion to intestinal epithelial cells and enhances cell viability during bacterial challenge 2. In vivo, DEFB118 attenuates enterotoxigenic E. coli-induced intestinal inflammation and injury through suppression of NF-κB and TLR4 signaling while promoting tight junction integrity 4. These antimicrobial and anti-inflammatory properties position DEFB118 as a potential therapeutic candidate against antibiotic-resistant bacterial infections and inflammatory bowel diseases.

Sources cited
1
DEFB118 demonstrates potent antimicrobial activity against E. coli and causes rapid membrane permeabilization; contributes to epididymal innate immunity
PMID: 15033915
2
DEFB118 exhibits antimicrobial activity against both Gram-negative and Gram-positive bacteria, inhibits E. coli adhesion, and reduces inflammatory cytokine expression
PMID: 33224970
3
DEFB118 binds LPS with high affinity (KD: 2.94 nM) and inhibits LPS-induced inflammatory cytokine production in macrophages
PMID: 33181266
4
DEFB118 attenuates enterotoxigenic E. coli-induced intestinal inflammation and injury through suppression of inflammatory genes and improved tight junction integrity
PMID: 33185791
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ8
neurodegenerative diseaseOpen Targets
0.32Weak
liver diseaseOpen Targets
0.13Weak
adolescent idiopathic scoliosisOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
candidiasisOpen Targets
0.00Suggestive
male infertilityOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DEFB125Protein interaction89%DEFB1Protein interaction87%DEFB126Protein interaction87%DEFB129Protein interaction87%DEFB119Protein interaction82%DEFB115Protein interaction80%
Tissue Expression6 tissues
Lung
0%
Ovary
0%
Brain
0%
Heart
0%
Liver
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
DEFB118DEFB125DEFB1DEFB126DEFB129DEFB119DEFB115
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96PH6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.86LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF1.02 [0.44–1.86]
RankingsWhere DEFB118 stands among ~20K protein-coding genes
  • #14,974of 20,598
    Most Researched17
  • #16,965of 17,882
    Most Constrained (LOEUF)1.86
Genes detectedDEFB118
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
The truncated human beta-defensin 118 can modulate lipopolysaccharide mediated inflammatory response in RAW264.7 macrophages.
PMID: 33181266
Peptides · 2021
1.00
2
Expression and Functional Characterization of a Novel Antimicrobial Peptide: Human Beta-Defensin 118.
PMID: 33224970
Biomed Res Int · 2020
0.86
3
Human β-Defensin 118 Attenuates Escherichia coli K88-Induced Inflammation and Intestinal Injury in Mice.
PMID: 33185791
Probiotics Antimicrob Proteins · 2021
0.71
4
Identification of novel genes by whole-exome sequencing can improve gastric cancer precision oncology.
PMID: 27897040
Future Oncol · 2017
0.57
5
The androgen-regulated epididymal sperm-binding protein, human beta-defensin 118 (DEFB118) (formerly ESC42), is an antimicrobial beta-defensin.
PMID: 15033915
Endocrinology · 2004
0.43