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2 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DEFB136
defensin beta 136
Chromosome 8 · 8p23.1
NCBI Gene: 613210Ensembl: ENSG00000205884.2HGNC: HGNC:34433UniProt: Q30KP8
5PubMed Papers
0Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
lipopolysaccharide bindingdefense response to Gram-positive bacteriumantifungal innate immune responseantibacterial innate immune response
✦AI Summary

Based on limited published evidence, DEFB136 is a host defense peptide with antimicrobial activity. It exhibits antibacterial and antifungal properties against E. coli, S. aureus, and C. albicans in vitro, with minimal cytotoxicity to human cells 1. DEFB136 demonstrates high lipopolysaccharide (LPS)-binding affinity, suggesting involvement in immunoregulation through LPS neutralization 1. The gene resides within the 8p23.1 region associated with congenital diaphragmatic hernia and cardiac defects 2.

Sources cited
1
DEFB136 exhibits antimicrobial activity against E. coli, S. aureus, and C. albicans with high LPS-binding affinity
PMID: 34481960
2
DEFB136 is located within 8p23.1 deletion region associated with congenital diaphragmatic hernia and cardiac defects
PMID: 23696316
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MPEG1Shared pathway67%DEFB106AShared pathway50%LALBAShared pathway43%RNASE8Shared pathway43%DEFB103AShared pathway40%DEFB119Shared pathway40%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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DEFB136MPEG1DEFB106ALALBARNASE8DEFB103ADEFB119
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q30KP8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF2.33 [1.01–1.97]
RankingsWhere DEFB136 stands among ~20K protein-coding genes
  • #18,317of 20,598
    Most Researched5
  • #17,782of 17,882
    Most Constrained (LOEUF)1.97
Genes detectedDEFB136
Sources retrieved2 papers
Response time—
📄 Sources
2
1
Soluble expression and purification of human β-defensin DEFB136 in Escherichia coli and identification of its bioactivity.
PMID: 34481960
Protein Expr Purif · 2021
1.00
2
Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects.
PMID: 23696316
Am J Med Genet A · 2013
0.50