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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DEFA3
defensin alpha 3
Chromosome 8 · 8p23.1
NCBI Gene: 1668Ensembl: ENSG00000239839.8HGNC: HGNC:2762UniProt: P59666
73PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein homodimerization activityinnate immune response in mucosaantibacterial humoral responseestrogen receptor signaling pathwaySepsisIGA glomerulonephritisGraves diseasecoronary artery disease
✦AI Summary

DEFA3 (defensin alpha 3) is an antimicrobial peptide and key effector of innate immunity that exhibits broad-spectrum activity against bacteria, fungi, and viruses 123. The protein neutralizes bacterial toxins including Bacillus anthracis lethal factor, Clostridium difficile cytotoxin B, and Staphylococcus aureus leukocidin 245. DEFA3 also prevents herpes simplex virus infection by blocking envelope glycoprotein B binding to heparan sulfate receptors 3. The gene exhibits extensive copy number variation (4-11 copies per diploid genome), with approximately 10% of individuals completely lacking DEFA3 6. Population-level variation in DEFA3 absence ranges from 10-37%, suggesting differential innate immune function across populations 7. Clinically, DEFA3 represents a novel bone metabolism-related gene in osteoporosis pathogenesis 8 and inhibits colorectal cancer cell migration and proliferation 9. Paradoxically, increased DEFA1/DEFA3 gene copy number is associated with enhanced sepsis severity through P2X7 receptor-mediated endothelial cell pyroptosis 10. DEFA3 is highly expressed in neonatal megakaryocytes and serves as a developmental biomarker of fetal thrombopoiesis 11.

Sources cited
1
DEFA3 acts as an antibiotic-like antimicrobial agent against bacteria, fungi, and viruses
PMID: 15616305
2
DEFA3 neutralizes bacterial toxins from B. anthracis, C. difficile, and S. aureus
PMID: 15772169
3
DEFA3 blocks herpes simplex virus infection via glycoprotein B interaction
PMID: 17142766
4
DEFA3 neutralizes S. aureus leukocidin toxin
PMID: 18435932
5
DEFA3 possesses toxin-neutralizing properties
PMID: 25963798
6
DEFA3 exhibits copy number variation of 4-11 copies per diploid genome with ~10% of individuals lacking it
PMID: 15944200
7
DEFA3 absence varies from 10-37% across different populations with functional implications for innate immunity
PMID: 17214878
8
DEFA3 is identified as a novel bone metabolism-related gene in osteoporosis
PMID: 36257255
9
DEFA3 is upregulated in normal tissues and inhibits colorectal cancer cell migration and proliferation
PMID: 41009818
10
Increased DEFA1/DEFA3 copy number is pathogenic in sepsis through P2X7-mediated endothelial cell pyroptosis
PMID: 30718392
11
DEFA3 is highly expressed in neonatal megakaryocytes and serves as a developmental biomarker of fetal thrombopoiesis
PMID: 35962592
Disease Associationsⓘ20
SepsisOpen Targets
0.08Suggestive
IGA glomerulonephritisOpen Targets
0.08Suggestive
Graves diseaseOpen Targets
0.07Suggestive
coronary artery diseaseOpen Targets
0.07Suggestive
sign or symptomOpen Targets
0.05Suggestive
Duane retraction syndromeOpen Targets
0.05Suggestive
nosocomial infectionOpen Targets
0.03Suggestive
polycystic ovary syndromeOpen Targets
0.03Suggestive
Cognitive impairmentOpen Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
synovial sarcomaOpen Targets
0.03Suggestive
cardiovascular diseaseOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
atrial fibrillationOpen Targets
0.02Suggestive
COVID-19Open Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
subarachnoid hemorrhageOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
malariaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DEFB103AProtein interaction100%DEFB104AProtein interaction96%DEFB4AProtein interaction86%DEFA1BProtein interaction84%DEFB107AProtein interaction84%DEFA4Protein interaction77%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
1%
Liver
0%
Ovary
0%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
DEFA3DEFB103ADEFB104ADEFB4ADEFA1BDEFB107ADEFA4
PROTEIN STRUCTURE
Preparing viewer…
PDB1ZMI · 1.15 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.74LoF Tolerant
pLIⓘ
0.78Intermediate
Observed/Expected LoF0.00 [0.00–0.74]
RankingsWhere DEFA3 stands among ~20K protein-coding genes
  • #6,455of 20,598
    Most Researched73
  • #5,822of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedDEFA3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-cell RNA sequencing analysis dissected the osteo-immunology microenvironment and revealed key regulators in osteoporosis.
PMID: 36257255
Int Immunopharmacol · 2022
1.00
2
Inter-population variability of DEFA3 gene absence: correlation with haplotype structure and population variability.
PMID: 17214878
BMC Genomics · 2007
0.90
3
Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3.
PMID: 15944200
Hum Mol Genet · 2005
0.80
4
MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.
PMID: 18154640
BMC Med Genet · 2007
0.70
5
Investigating the Development of Colorectal Cancer Based on Spatial Transcriptomics.
PMID: 41009818
Int J Mol Sci · 2025
0.60