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4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DEFB127
defensin beta 127
Chromosome 20 · 20p13
NCBI Gene: 140850Ensembl: ENSG00000088782.5HGNC: HGNC:16206UniProt: Q9H1M4
22PubMed Papers
4Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
defense response to Gram-negative bacteriumprotein bindingantimicrobial humoral immune response mediated by antimicrobial peptidedefense response to bacteriumHypoventilationintellectual developmental disorder, X-linked 110sleep apneaAIDS
✦AI Summary

DEFB127 (defensin beta 127) is an antimicrobial peptide with antibacterial activity that functions in innate immune defense against bacterial pathogens, particularly gram-negative bacteria 1. The gene encodes a component of the humoral antimicrobial immune response involved in defense mechanisms and protein binding interactions [GO annotations]. Evolutionary analysis reveals DEFB127 has undergone balancing selection in human populations, with two highly diverged haplotype clades carrying different variants at a codon that showed positive selection in catarrhine primates, suggesting long-term selective pressure 2. Clinically, DEFB127 promoter variants are emerging as disease-relevant loci: a promoter SNP (rs6055069) was identified as a novel genome-wide significant risk variant for coronary artery disease in type 1 diabetes (OR = 4.17, P = 2.35 × 10⁻⁹), providing a mechanistic link between infection susceptibility, diabetes, and cardiovascular disease 1. Additionally, the 20p13 chr20 region containing DEFB127 shows amplification in tongue cancer recurrence cases 3, and DEFB127 was among the most significantly mutated genes in pulmonary carcinoid tumors 4, suggesting potential involvement in neoplastic pathways. These findings indicate DEFB127 bridges innate immunity with metabolic and oncological disease susceptibility.

Sources cited
1
DEFB127 promoter variant rs6055069 is a genome-wide significant risk locus for coronary artery disease in type 1 diabetes and links infection susceptibility with CAD
PMID: 32077919
2
DEFB127 shows evidence of long-term balancing selection in human populations with diverged haplotype clades
PMID: 18416833
3
DEFB127 is located in the 20p13 region which shows amplification in tongue cancer recurrence
PMID: 39127975
4
DEFB127 is among the most significantly mutated genes in pulmonary carcinoid tumors
PMID: 29351916
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ4
HypoventilationOpen Targets
0.04Suggestive
intellectual developmental disorder, X-linked 110Open Targets
0.04Suggestive
sleep apneaOpen Targets
0.02Suggestive
AIDSOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DEFB1Protein interaction86%DEFB129Protein interaction86%DEFB128Protein interaction83%DEFB119Protein interaction82%DEFB116Protein interaction79%DEFB110Protein interaction78%
Tissue Expression6 tissues
Lung
0%
Bone Marrow
0%
Ovary
0%
Heart
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
DEFB127DEFB1DEFB129DEFB128DEFB119DEFB116DEFB110
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9H1M4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.70LoF Tolerant
pLIⓘ
0.15Tolerant
Observed/Expected LoF0.63 [0.25–1.70]
RankingsWhere DEFB127 stands among ~20K protein-coding genes
  • #13,642of 20,598
    Most Researched22
  • #16,110of 17,882
    Most Constrained (LOEUF)1.70
Genes detectedDEFB127
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Genome-wide association study on coronary artery disease in type 1 diabetes suggests beta-defensin 127 as a risk locus.
PMID: 32077919
Cardiovasc Res · 2021
1.00
2
Pathways Impacted by Genomic Alterations in Pulmonary Carcinoid Tumors.
PMID: 29351916
Clin Cancer Res · 2018
0.75
3
Genetic Features of Tongue Cancer Recurrence in Young Adults.
PMID: 39127975
Bull Exp Biol Med · 2024
0.50
4
Directional and balancing selection in human beta-defensins.
PMID: 18416833
BMC Evol Biol · 2008
0.25