2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
6PubMed Papers
4Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
membrane destabilizing activitykilling of cells of another organisminnate immune responsedefense response to Gram-negative bacteriumgastric carcinomapneumoniainfectionSepsis
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.
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: 157726802
DEFB123 is downregulated in seminoma components of mixed testicular germ cell tumors compared to pure seminomas
PMID: 34347114β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
gastric carcinomaOpen Targets
No pathogenic variants reported on ClinVar for this gene.