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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DEFB123
defensin beta 123
Chromosome 20 Β· 20q11.21
NCBI Gene: 245936Ensembl: ENSG00000180424.7HGNC: HGNC:18103UniProt: Q8N688
6PubMed Papers
4Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membrane destabilizing activitykilling of cells of another organisminnate immune responsedefense response to Gram-negative bacteriumgastric carcinomapneumoniainfectionSepsis
✦AI Summary

Based on limited published evidence, DEFB123 is a beta-defensin gene located on chromosome 20.1 that encodes an antimicrobial peptide with antibacterial activity. The protein functions in innate immunity through membrane destabilization and killing of pathogenic organisms 1. DEFB123 is part of a cluster of defensin genes (DEFB119-DEFB123) with restricted expression in the male reproductive tract and androgen-dependent regulation, suggesting roles in reproductive specialization 1. DEFB123 expression is significantly downregulated in seminoma components of mixed testicular germ cell tumors compared to pure seminomas 2, indicating potential involvement in tumor progression.

Sources cited
1
DEFB123 is part of a beta-defensin cluster on chromosome 20q11.1 with expression restricted to male reproductive tract and androgen-dependent regulation
PMID: 15772680
2
DEFB123 is downregulated in seminoma components of mixed testicular germ cell tumors compared to pure seminomas
PMID: 34347114
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜4
gastric carcinomaOpen Targets
0.02Suggestive
pneumoniaOpen Targets
0.01Suggestive
infectionOpen Targets
0.00Suggestive
SepsisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
DEFB121Shared pathway100%DEFB135Shared pathway100%DEFB132Shared pathway100%DEFB125Protein interaction93%DEFB106BProtein interaction92%DEFB115Protein interaction85%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
0%
Lung
0%
Ovary
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
DEFB123DEFB121DEFB135DEFB132DEFB125DEFB106BDEFB115
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q8N688
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.72LoF Tolerant
pLIβ“˜
0.03Tolerant
Observed/Expected LoF0.83 [0.40–1.72]
RankingsWhere DEFB123 stands among ~20K protein-coding genes
  • #18,054of 20,598
    Most Researched6
  • #16,193of 17,882
    Most Constrained (LOEUF)1.72
Genes detectedDEFB123
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Identification, characterization, and evolution of a primate beta-defensin gene cluster.
PMID: 15772680
Genes Immun Β· 2005
1.00
2
Gene expression microarray analysis of adult testicular germ cell tumor: a comparison between pure-type seminomas and seminoma components in mixed tumors.
PMID: 34347114
Virchows Arch Β· 2021
0.50