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3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DEFB128
defensin beta 128
Chromosome 20 · 20p13
NCBI Gene: 245939Ensembl: ENSG00000185982.7HGNC: HGNC:18106UniProt: Q7Z7B8
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
defense response to Gram-negative bacteriumkilling of cells of another organismprotein bindingdefense response to Gram-positive bacteriumneurodegenerative diseaseintracerebral hemorrhageazoospermiapartial chromosome Y deletion
✦AI Summary

DEFB128 (defensin beta 128) is an antimicrobial peptide with primary antibacterial activity against both Gram-negative and Gram-positive bacteria. As a member of the beta-defensin family, it functions as part of the innate immune response at mucosal surfaces, contributing to the epithelial barrier's protective mechanisms 1. In healthy gingival tissues, DEFB128 is expressed at intermediate to low levels and exhibits dynamic regulation during periodontal disease progression, with expression generally decreased in response to infection and inflammation 1. The gene is located within a frequently amplified region (20p13) in tongue cancer tissues, where it co-amplifies with adjacent defensin genes (DEFB125, DEFB126, DEFB127, DEFB129, DEFB132) and other genes in primary tumors and recurrent lesions 2. Beyond its antimicrobial function, DEFB128 has emerging clinical significance as a danger-recognizing peptide. Elevated serum levels of β-defensin-128 are independently associated with recurrent coronary events in subjects with coronary artery disease, with an odds ratio of 7.49, and combining β-defensin-128 with histatin-3 improved risk prediction for recurrent events (C-statistics: 0.800 versus 0.677 for conventional factors alone) 3. This suggests DEFB128 may serve as a biomarker for cardiovascular risk stratification.

Sources cited
1
DEFB128 expression in gingival tissues and dynamic regulation during periodontal disease
PMID: 35330821
2
DEFB128 amplification in 20p13 region in tongue cancer primary and recurrent tumors
PMID: 39127975
3
β-defensin-128 as biomarker associated with recurrent coronary events and cardiovascular risk
PMID: 28627688
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.31Weak
intracerebral hemorrhageOpen Targets
0.23Weak
azoospermiaOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.05Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.05Suggestive
spermatogenic failure 3Open Targets
0.05Suggestive
spermatogenic failure 55Open Targets
0.05Suggestive
spermatogenic failure 61Open Targets
0.05Suggestive
spermatogenic failure 62Open Targets
0.05Suggestive
spermatogenic failure 88Open Targets
0.05Suggestive
spermatogenic failure 59Open Targets
0.05Suggestive
spermatogenic failure 60Open Targets
0.05Suggestive
spermatogenic failure 73Open Targets
0.05Suggestive
spermatogenic failure 74Open Targets
0.05Suggestive
spermatogenic failure 26Open Targets
0.04Suggestive
spermatogenic failure 31Open Targets
0.04Suggestive
spermatogenic failure 53Open Targets
0.04Suggestive
spermatogenic failure 87Open Targets
0.04Suggestive
habitual abortionOpen Targets
0.04Suggestive
spermatogenic failure 52Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DEFB126Protein interaction83%DEFB127Protein interaction83%DEFB129Protein interaction83%DEFB110Protein interaction83%DEFB113Protein interaction83%DEFB114Protein interaction83%
Tissue Expression6 tissues
Lung
0%
Ovary
0%
Bone Marrow
0%
Heart
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
DEFB128DEFB126DEFB127DEFB129DEFB110DEFB113DEFB114
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q7Z7B8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.59LoF Tolerant
pLIⓘ
0.31Tolerant
Observed/Expected LoF0.39 [0.13–1.59]
RankingsWhere DEFB128 stands among ~20K protein-coding genes
  • #17,570of 20,598
    Most Researched8
  • #15,645of 17,882
    Most Constrained (LOEUF)1.59
Genes detectedDEFB128
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Genetic Features of Tongue Cancer Recurrence in Young Adults.
PMID: 39127975
Bull Exp Biol Med · 2024
1.00
2
Gingival Transcriptome of Innate Antimicrobial Factors and the Oral Microbiome With Aging and Periodontitis.
PMID: 35330821
Front Oral Health · 2022
0.67
3
Danger-recognizing proteins, β-defensin-128 and histatin-3, as potential biomarkers of recurrent coronary events.
PMID: 28627688
Int J Mol Med · 2017
0.33