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GeneE
0 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DEFB131B
defensin beta 131B
Chromosome 11 Β· 11q13.4
NCBI Gene: 100129216Ensembl: ENSG00000225805.4HGNC: HGNC:38058UniProt: A0A096LNP1
2PubMed Papers
7Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615innate immune responseextracellular regiondeafnessautosomal recessive nonsyndromic hearing loss 9autosomal dominant nonsyndromic hearing losshearing loss, autosomal recessive
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

defensin beta 131B

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜7
deafnessOpen Targets
0.05Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.04Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.04Suggestive
hearing loss, autosomal recessiveOpen Targets
0.03Suggestive
small cell lung carcinomaOpen Targets
0.00Suggestive
Lyme diseaseOpen Targets
0.00Suggestive
sarcomaOpen 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 Expression6 tissues
Ovary
100%
Lung
25%
Brain
13%
Heart
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
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DEFB131BPPP1R14BBSPRYANKHD1CYBC1TRIM50TRIML2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt A0A096LNP1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.80LoF Tolerant
pLIβ“˜
0.05Tolerant
Observed/Expected LoF0.86 [0.38–1.80]
RankingsWhere DEFB131B stands among ~20K protein-coding genes
  • #19,115of 20,598
    Most Researched2
  • #16,560of 17,882
    Most Constrained (LOEUF)1.80
Genes detectedDEFB131B
Sources retrieved0 papers
Response timeβ€”