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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DEFB121
defensin beta 121
Chromosome 20 Β· 20q11.21
NCBI Gene: 245934Ensembl: ENSG00000204548.4HGNC: HGNC:18101UniProt: A0A384MDM0
9PubMed Papers
8Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmembrane destabilizing activitykilling of cells of another organisminnate immune responsealcohol drinkinggastric carcinomahypertensionresponse to xenobiotic stimulus
✦AI Summary

DEFB121 is a beta-defensin antimicrobial peptide characterized by six conserved cysteine residues. Based on limited published evidence, it exhibits antibacterial activity and membrane destabilizing properties 1. The protein participates in innate immune responses and cell-killing mechanisms through protein binding interactions. DEFB121 is part of a clustered gene family on chromosome 20.1, with expression restricted to the male reproductive tract where it is differentially regulated by androgens 1. The gene likely evolved through duplication events and positive selection, potentially related to reproductive specialization.

Sources cited
1
DEFB121 is located in the beta-defensin cluster on chromosome 20q11.1, expressed in male reproductive tract, regulated by androgens, and evolved through duplication and positive selection
PMID: 15772680
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜8
alcohol drinkingOpen Targets
0.29Weak
gastric carcinomaOpen Targets
0.17Weak
hypertensionOpen Targets
0.09Suggestive
response to xenobiotic stimulusOpen Targets
0.08Suggestive
crush injuryOpen Targets
0.05Suggestive
intellectual developmental disorder, X-linked 110Open Targets
0.04Suggestive
smoking initiationOpen Targets
0.02Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
DEFB132Shared pathway100%DEFB125Shared pathway100%DEFB123Shared pathway100%DEFB106BProtein interaction92%DEFB115Protein interaction85%DEFB135Protein interaction83%
Tissue Expression6 tissues
Heart
0%
Brain
0%
Lung
0%
Ovary
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
DEFB121DEFB132DEFB125DEFB123DEFB106BDEFB115DEFB135
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q5GRF9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.92 [0.87–1.96]
RankingsWhere DEFB121 stands among ~20K protein-coding genes
  • #17,309of 20,598
    Most Researched9
  • #17,718of 17,882
    Most Constrained (LOEUF)1.96
Genes detectedDEFB121
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Identification, characterization, and evolution of a primate beta-defensin gene cluster.
PMID: 15772680
Genes Immun Β· 2005
1.00