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0 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DEFB116
defensin beta 116
Chromosome 20 Β· 20q11.21
NCBI Gene: 245930Ensembl: ENSG00000215545.1HGNC: HGNC:18097UniProt: Q30KQ4
4PubMed Papers
7Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
innate immune responseextracellular regionliver diseaseIncreased total eosinophil countadolescent idiopathic scoliosissmoking behavior
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

defensin beta 116

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜7
liver diseaseOpen Targets
0.32Weak
Increased total eosinophil countOpen Targets
0.24Weak
adolescent idiopathic scoliosisOpen Targets
0.19Weak
smoking behaviorOpen Targets
0.18Weak
rectosigmoid junction neoplasmOpen Targets
0.05Suggestive
smoking initiationOpen Targets
0.02Suggestive
aortic stenosisOpen Targets
0.02Suggestive
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
DEFB116PPP1R14BBSPRYANKHD1CYBC1TRIM50TRIML2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q30KQ4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.91LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.32 [0.64–1.91]
RankingsWhere DEFB116 stands among ~20K protein-coding genes
  • #18,547of 20,598
    Most Researched4
  • #17,327of 17,882
    Most Constrained (LOEUF)1.91
Genes detectedDEFB116
Sources retrieved0 papers
Response timeβ€”