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3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DEFB125
defensin beta 125
Chromosome 20 · 20p13
NCBI Gene: 245938Ensembl: ENSG00000178591.7HGNC: HGNC:18105UniProt: B2R4E8
7PubMed Papers
3Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membrane destabilizing activitykilling of cells of another organisminnate immune responsedefense response to Gram-negative bacteriumneurodegenerative diseasesleep apneaCOVID-19
✦AI Summary

DEFB125 (defensin beta 125) is a member of the beta-defensin family with demonstrated antibacterial activity and roles in innate immunity. At the molecular level, DEFB125 functions through membrane destabilization mechanisms to kill pathogenic organisms 1. The gene is regulated by innate immune signaling pathways; specifically, NLRX1-mediated suppression of NF-κB activation negatively regulates DEFB125 expression during enterohemorrhagic Escherichia coli infection, with DEFB125 upregulation occurring upon pathway inhibition 1. DEFB125 shows region-specific expression patterns in the male reproductive tract, with relatively high expression detected in the corpus epididymis, suggesting a role in the local immune environment during spermatozoal maturation 2. From a clinical perspective, DEFB125 is located within the 20p13 region, which is amplified in tongue cancer tissues from young adults with disease recurrence, indicating potential involvement in cancer-associated genomic alterations 3. The gene's functional role in anti-microbial defense through antibacterial and cell-killing activities positions it as part of the innate immune response system, though further investigation is needed to fully characterize its contributions to tissue-specific immunity and cancer biology.

Sources cited
1
DEFB125 expression is upregulated upon NF-κB pathway inhibition during EHEC infection and participates in antimicrobial responses
PMID: 31962226
2
DEFB125 shows relatively high expression in the corpus region of yak epididymis
PMID: 31404823
3
DEFB125 is located in the 20p13 amplified region found in tongue cancer recurrence tissue in young adults
PMID: 39127975
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ3
neurodegenerative diseaseOpen Targets
0.28Weak
sleep apneaOpen Targets
0.27Weak
COVID-19Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DEFB115Shared pathway100%DEFB121Shared pathway100%DEFB123Protein interaction93%DEFB126Protein interaction89%DEFB118Protein interaction89%DEFB129Protein interaction89%
Tissue Expression6 tissues
Lung
0%
Brain
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
DEFB125DEFB115DEFB121DEFB123DEFB126DEFB118DEFB129
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8N687
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.53LoF Tolerant
pLIⓘ
0.34Tolerant
Observed/Expected LoF0.36 [0.12–1.53]
RankingsWhere DEFB125 stands among ~20K protein-coding genes
  • #17,816of 20,598
    Most Researched7
  • #15,319of 17,882
    Most Constrained (LOEUF)1.53
Genes detectedDEFB125
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Functional characterization of NLRX1 in rabbit during enterohemorrhagic Escherichia coli infection.
PMID: 31962226
Dev Comp Immunol · 2020
1.00
2
Genetic Features of Tongue Cancer Recurrence in Young Adults.
PMID: 39127975
Bull Exp Biol Med · 2024
0.67
3
Region-specific gene expression in the epididymis of Yak.
PMID: 31404823
Theriogenology · 2019
0.33