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GeneE
4 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.
DEFB132
defensin beta 132
Chromosome 20 Β· 20p13
NCBI Gene: 400830Ensembl: ENSG00000186458.5HGNC: HGNC:33806UniProt: Q7Z7B7
9PubMed Papers
11Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingGO:0005615sperm headkilling of cells of another organismbreast carcinomaintellectual developmental disorder, X-linked 110carcinoma of liver and intrahepatic biliary tractneoplasm
✦AI Summary

DEFB132 (defensin beta 132) encodes an antimicrobial peptide with antibacterial activity 1. As a beta-defensin, it functions as a key component of the innate immune system with roles in antimicrobial defense and cell signaling 1. DEFB132 exhibits notable genetic diversity, particularly in hunter-gatherer populations where it carries a four-state amino acid polymorphism at position 93 (valine, isoleucine, alanine, and threonine), suggesting evolutionary adaptation to varying selective pressures across human populations 1. In cancer contexts, DEFB132 has emerged as a potential biomarker with clinical significance. It was identified as a differentially expressed gene associated with breast cancer diagnosis and prognosis, alongside genes like CRYAB, MAOA, and RBP4 2. Additionally, DEFB132 was identified as a possible novel triple-negative breast cancer driver gene in African populations, with somatic mutations and copy number variations in the 20p13 region containing DEFB132 3. The gene was also found amplified in tongue cancer recurrence tissue in young adults 4. These findings suggest DEFB132 may have broader roles beyond antimicrobial immunity, potentially relevant to cancer biology, though its mechanisms in these contexts require further investigation.

Sources cited
1
DEFB132 is an antimicrobial beta-defensin with cell signaling roles; exhibits four-state amino acid polymorphism at position 93 in hunter-gatherer populations
PMID: 18416833
2
DEFB132 identified as differentially expressed gene associated with breast cancer diagnosis and prognosis
PMID: 35686034
3
DEFB132 identified as possible novel triple-negative breast cancer driver gene in African patients with somatic mutations and copy number variations
PMID: 40133516
4
DEFB132 amplification found in 20p13 region in tongue cancer recurrence tissue
PMID: 39127975
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜11
breast carcinomaOpen Targets
0.04Suggestive
intellectual developmental disorder, X-linked 110Open Targets
0.04Suggestive
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
breast ductal carcinoma in situOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
invasive breast ductal carcinomaOpen Targets
0.01Suggestive
squamous cell carcinomaOpen Targets
0.00Suggestive
triple-negative breast cancerOpen Targets
0.00Suggestive
prostate adenocarcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
DEFB115Shared pathway100%DEFB121Shared pathway100%DEFB123Shared pathway100%DEFB135Shared pathway100%DEFB125Protein interaction84%DEFB1Protein interaction75%
Tissue Expression6 tissues
Heart
100%
Liver
89%
Ovary
0%
Brain
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
DEFB132DEFB115DEFB121DEFB123DEFB135DEFB125DEFB1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q7Z7B7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.95LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.75 [0.77–1.95]
RankingsWhere DEFB132 stands among ~20K protein-coding genes
  • #17,311of 20,598
    Most Researched9
  • #17,653of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedDEFB132
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Coding and regulatory somatic profiling of triple-negative breast cancer in Sub-Saharan African patients.
PMID: 40133516
Sci Rep Β· 2025
1.00
2
Identification and Verification of Key Tumor Genes Associated with Diagnosis and Prognosis of Breast Cancer Based on Bioinformatics Analysis.
PMID: 35686034
Dis Markers Β· 2022
0.75
3
Genetic Features of Tongue Cancer Recurrence in Young Adults.
PMID: 39127975
Bull Exp Biol Med Β· 2024
0.50
4
Directional and balancing selection in human beta-defensins.
PMID: 18416833
BMC Evol Biol Β· 2008
0.25