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3 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DEFB124
defensin beta 124
Chromosome 20 · 20q11.21
NCBI Gene: 245937Ensembl: ENSG00000180383.4HGNC: HGNC:18104UniProt: Q8NES8
9PubMed Papers
8Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinginnate immune responseextracellular regioneye diseasehypertensionresponse to xenobiotic stimulusinvasive breast ductal carcinoma
✦AI Summary

DEFB124 (defensin beta 124) is an antimicrobial peptide with critical roles in innate immunity. Primary Function: DEFB124 exhibits antibacterial activity and functions as an immune signaling molecule in epithelial tissues 1. Mechanism: DEFB124 expression is induced through NF-κB signaling pathway activation in response to bacterial pathogen-associated molecular patterns, particularly peptidoglycan 1. Upon upregulation, DEFB124 enhances production of pro-inflammatory cytokines (IL-6, IL-12) and chemokines (CCL5, CCL22, CXCL8), promoting immune cell recruitment and activation 1. DEFB124 expression is negatively regulated by NLRX1, a pattern recognition receptor that suppresses NF-κB signaling during bacterial infection 2. Disease Relevance: DEFB124 expression increases significantly during enterohemorrhagic E. coli infection, contributing to anti-microbial host defense 2. Environmental exposure to polychlorinated biphenyls (PCBs) during pregnancy is associated with altered DEFB124 gene expression in newborns, suggesting environmental factors may dysregulate immune defense mechanisms 3. Clinical Significance: DEFB124-mediated innate immune responses may be critical for protection against bacterial infections, while dysregulation could compromise epithelial immune defense.

Sources cited
1
DEFB124 is induced via NF-κB activation by bacterial peptidoglycan and enhances production of cytokines and chemokines in prostate epithelial cells
PMID: 24955228
2
DEFB124 expression is upregulated during enterohemorrhagic E. coli infection and negatively regulated by NLRX1
PMID: 31962226
3
Prenatal PCB exposure is associated with differential DEFB124 gene expression in newborns
PMID: 40975932
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ8
eye diseaseOpen Targets
0.05Suggestive
hypertensionOpen Targets
0.03Suggestive
response to xenobiotic stimulusOpen Targets
0.03Suggestive
invasive breast ductal carcinomaOpen Targets
0.00Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPP1R14BShared pathway100%BSPRYShared pathway100%ANKHD1Shared pathway100%CYBC1Shared pathway100%TRIM50Shared pathway100%TRIML2Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Ovary
100%
Lung
80%
Liver
10%
Bone Marrow
10%
Brain
0%
Gene Interaction Network
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DEFB124PPP1R14BBSPRYANKHD1CYBC1TRIM50TRIML2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8NES8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.73Intermediate
Observed/Expected LoF0.00 [0.00–0.83]
RankingsWhere DEFB124 stands among ~20K protein-coding genes
  • #17,310of 20,598
    Most Researched9
  • #7,132of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedDEFB124
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Beta-Defensin 124 Is Required for Efficient Innate Immune Responses in Prostate Epithelial RWPE-1 Cells.
PMID: 24955228
Korean J Urol · 2014
1.00
2
Functional characterization of NLRX1 in rabbit during enterohemorrhagic Escherichia coli infection.
PMID: 31962226
Dev Comp Immunol · 2020
0.67
3
Exploring the associations between prenatal PCB exposures and gene expression: Observations from a study of newborn Slovak infants.
PMID: 40975932
Ecotoxicol Environ Saf · 2025
0.33