HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DEFB130A
defensin beta 130A
Chromosome 8 Β· 8p23.1
NCBI Gene: 245940Ensembl: ENSG00000232948.1HGNC: HGNC:18107UniProt: P0DP74
8PubMed Papers
6Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
CCR6 chemokine receptor bindingcell chemotaxisGO:0005615defense response to bacteriummathematical abilityjoint diseaseradius fractureulna fracture
✦AI Summary

Based on limited published evidence, DEFB130A encodes an antimicrobial host-defense peptide with antiplasmodial activity. The protein functions as a chemoattractant through CCR6 chemokine receptor binding and promotes cell chemotaxis and defense responses to bacteria. A genetic locus near DEFB130A was associated with periodontitis susceptibility in a large Finnish GWAS study 1, suggesting a role in oral immune dysregulation and bacterial defense.

Sources cited
1
Genetic variation near DEFB130A was identified as a novel locus associated with periodontitis in a genome-wide association study of ~250,000 Finnish individuals
PMID: 40682483
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜6
mathematical abilityOpen Targets
0.20Weak
joint diseaseOpen Targets
0.19Weak
radius fractureOpen Targets
0.05Suggestive
ulna fractureOpen Targets
0.05Suggestive
Urethral strictureOpen Targets
0.02Suggestive
bacterial diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
DEFB130BShared pathway100%DEFB109BShared pathway100%DEFB110Shared pathway83%DEFB131AProtein interaction78%DEFB118Protein interaction72%DEFB125Protein interaction72%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
DEFB130ADEFB130BDEFB109BDEFB110DEFB131ADEFB118DEFB125
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P0DP74
View on AlphaFold β†—
RankingsWhere DEFB130A stands among ~20K protein-coding genes
  • #17,571of 20,598
    Most Researched8
Genes detectedDEFB130A
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Genetic Loci Associated With Periodontitis: The FinnGen Study Based on National Health Registers.
PMID: 40682483
J Clin Periodontol Β· 2025
1.00