HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DEFB114
defensin beta 114
Chromosome 6 · 6p12.3
NCBI Gene: 245928Ensembl: ENSG00000177684.4HGNC: HGNC:18095UniProt: Q30KQ6
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lipopolysaccharide bindingnegative regulation of lipopolysaccharide-mediated signaling pathwaynegative regulation of tumor necrosis factor productionnegative regulation of MAP kinase activityhypertensionovarian neoplasmpneumonitisneoplasm
✦AI Summary

DEFB114 is a β-defensin antimicrobial peptide expressed predominantly in the epididymis and gingival tissues 1. It exhibits broad-spectrum antimicrobial activity against Gram-negative bacteria (E. coli), Gram-positive bacteria (S. aureus), and fungi (C. albicans) in a salt-sensitive manner 1. DEFB114's primary mechanism involves direct LPS binding, which suppresses TNF-α release from macrophages through MAPK p42/44 pathway inhibition 1. Additionally, DEFB114 enhances fungal resistance through NOD1/2-ATG16L1-NF-κB signaling activation, increasing macrophage phagocytic activity and nitric oxide release 2. Clinically, DEFB114 demonstrates protective effects in inflammatory and reproductive contexts: it rescues LPS-induced sperm motility loss in vitro and protects d-galactosamine-sensitized mice from LPS-induced lethality in vivo 1. Its antimicrobial and immunomodulatory properties are disulfide bond-dependent, with minimal cytotoxicity toward human erythrocytes, suggesting therapeutic potential for LPS-induced inflammation, septic shock, and fungal infections 12. DEFB114 expression is upregulated during bacterial infection and functions as a direct antimicrobial effector 3.

Sources cited
1
DEFB114 exhibits antimicrobial activity against E. coli, S. aureus, and C. albicans; binds LPS; inhibits TNF-α through MAPK inhibition; rescues sperm motility loss and protects mice from LPS-induced lethality
PMID: 23482568
2
DEFB114 protein inhibits Aspergillus fumigatus growth and enhances fungal resistance through NOD1/2-ATG16L1-NF-κB pathway activation
PMID: 38484587
3
DEFB114 expression is upregulated upon EHEC infection and acts as an antimicrobial effector in innate immune responses
PMID: 31962226
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
hypertensionOpen Targets
0.07Suggestive
ovarian neoplasmOpen Targets
0.06Suggestive
pneumonitisOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
benign chondrogenic neoplasmOpen Targets
0.04Suggestive
glomerulonephritisOpen Targets
0.04Suggestive
Abruptio PlacentaeOpen Targets
0.04Suggestive
cardiovascular diseaseOpen Targets
0.04Suggestive
smoking initiationOpen Targets
0.04Suggestive
Abnormal male internal genitalia morphologyOpen Targets
0.03Suggestive
trauma complicationOpen Targets
0.03Suggestive
metabolic syndromeOpen Targets
0.03Suggestive
corneal neovascularizationOpen Targets
0.03Suggestive
squamous cell carcinomaOpen Targets
0.02Suggestive
muscular atrophyOpen Targets
0.02Suggestive
fungal infectious diseaseOpen Targets
0.01Suggestive
atopic eczemaOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
skin diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DEFB125Protein interaction89%DEFB108BProtein interaction86%DEFB128Protein interaction83%DEFB115Protein interaction80%DEFB116Protein interaction79%DEFB103AProtein interaction76%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
DEFB114DEFB125DEFB108BDEFB128DEFB115DEFB116DEFB103A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q30KQ6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.84LoF Tolerant
pLIⓘ
0.20Tolerant
Observed/Expected LoF0.69 [0.21–1.84]
RankingsWhere DEFB114 stands among ~20K protein-coding genes
  • #18,053of 20,598
    Most Researched6
  • #16,786of 17,882
    Most Constrained (LOEUF)1.84
Genes detectedDEFB114
Sources retrieved3 papers
Response time—
📄 Sources
3
1
The novel human β-defensin 114 regulates lipopolysaccharide (LPS)-mediated inflammation and protects sperm from motility loss.
PMID: 23482568
J Biol Chem · 2013
1.00
2
DEFB114 protein enhances host resistance to fungal infection through the NOD1/2-ATG16L1-NF-κB signaling pathway.
PMID: 38484587
Bioorg Chem · 2024
0.67
3
Functional characterization of NLRX1 in rabbit during enterohemorrhagic Escherichia coli infection.
PMID: 31962226
Dev Comp Immunol · 2020
0.33