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GeneE
1 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.
DEFB113
defensin beta 113
Chromosome 6 Β· 6p12.3
NCBI Gene: 245927Ensembl: ENSG00000214642.1HGNC: HGNC:18094UniProt: Q30KQ7
2PubMed Papers
18Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
innate immune responseextracellular regionneurodegenerative diseasetrauma complicationsquamous cell carcinomahypertension
✦AI Summary

Based on limited published evidence, DEFB113 (defensin beta 113) is an antimicrobial peptide with antibacterial activity. DEFB113 is expressed in gingival tissues as part of the innate immune defense at mucosal sites 1. The gene shows age-related variations in expression levels in healthy gingival tissues and altered expression in periodontal disease states 1. DEFB113 contributes to the epithelial barrier's antimicrobial factor complement, supporting innate immunity at oral mucosal sites.

Sources cited
1
DEFB113 expression is altered across different age groups in gingival tissues and shows dynamic expression changes in response to periodontal disease, contributing to the antimicrobial defense transcriptome of oral mucosa
PMID: 35330821
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜18
neurodegenerative diseaseOpen Targets
0.30Weak
trauma complicationOpen Targets
0.08Suggestive
squamous cell carcinomaOpen Targets
0.08Suggestive
hypertensionOpen Targets
0.07Suggestive
ovarian neoplasmOpen Targets
0.06Suggestive
benign chondrogenic neoplasmOpen Targets
0.05Suggestive
pneumonitisOpen Targets
0.05Suggestive
muscular atrophyOpen Targets
0.04Suggestive
Abruptio PlacentaeOpen Targets
0.04Suggestive
glomerulonephritisOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
cardiovascular diseaseOpen Targets
0.04Suggestive
metabolic syndromeOpen Targets
0.03Suggestive
smoking initiationOpen Targets
0.03Suggestive
corneal neovascularizationOpen Targets
0.03Suggestive
Abnormal male internal genitalia morphologyOpen Targets
0.03Suggestive
placenta praeviaOpen Targets
0.02Suggestive
fungal infectious diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PPP1R14BShared pathway100%BSPRYShared pathway100%ANKHD1Shared pathway100%CYBC1Shared pathway100%TRIM50Shared pathway100%TRIML2Shared pathway100%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
Click a node to explore
DEFB113PPP1R14BBSPRYANKHD1CYBC1TRIM50TRIML2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q30KQ7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.96LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF2.59 [0.83–1.96]
RankingsWhere DEFB113 stands among ~20K protein-coding genes
  • #19,113of 20,598
    Most Researched2
  • #17,757of 17,882
    Most Constrained (LOEUF)1.96
Genes detectedDEFB113
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Gingival Transcriptome of Innate Antimicrobial Factors and the Oral Microbiome With Aging and Periodontitis.
PMID: 35330821
Front Oral Health Β· 2022
1.00