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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DEFB106A
defensin beta 106A
Chromosome 8 · 8p23.1
NCBI Gene: 245909Ensembl: ENSG00000186579.3HGNC: HGNC:18088UniProt: Q8N104
15PubMed Papers
8Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
microvesicleprotein bindingheparin bindingCCR2 chemokine receptor bindingintellectual developmental disorder, X-linked 110male infertilityHypocalcemiaacute basophilic leukemia
✦AI Summary

DEFB106A encodes defensin beta 106A, a cationic antimicrobial peptide belonging to the beta-defensin family characterized by six conserved cysteine residues 1. This gene is predominantly expressed in the epididymis, with region-specific localization in the corpus segment 2. DEFB106A contributes to innate immunity through antimicrobial and antiviral mechanisms, binding to glycosaminoglycans including heparin and competing for chemokine receptor CCR2 binding sites to modulate leukocyte recruitment 3. The gene also demonstrates salt-dependent antimicrobial activity against Gram-negative and Gram-positive bacteria 1. In reproductive physiology, DEFB106A expression in the epididymal epithelium is critical for creating the luminal environment necessary for spermatozoal maturation 1. Notably, DEFB106A expression is significantly downregulated in the caput epididymidis of men with nonobstructive azoospermia compared to fertile controls, suggesting its role in male fertility 4. This downregulation occurs alongside alterations in water and ion transport gene expression, indicating broader disruption of epididymal function in infertile patients 4. The coordinated expression of multiple beta-defensin isoforms, including DEFB106A, suggests cooperative regulation of urogenital innate immunity 1. However, clinical applications of beta-defensin therapy require caution, as adenovirus-mediated HBD6 expression paradoxically exacerbated viral infection in vivo 5.

Sources cited
1
DEFB106A is downregulated in caput epididymidis of infertile men with nonobstructive azoospermia, associated with disrupted water and ion transport
PMID: 17928628
2
DEFB106A shows region-specific expression in the corpus segment of yak epididymis
PMID: 31404823
3
Beta-defensins bind glycosaminoglycans and compete for CCR2 chemokine receptor binding sites to modulate immune cell recruitment
PMID: 24970887
4
Beta-defensins including DEFB106A homologs are epididymis-specific, contain six conserved cysteines, show salt-dependent antimicrobial activity, and cooperatively contribute to urogenital innate immunity
PMID: 12193721
5
Adenovirus-mediated beta-defensin 6 gene expression increases neutrophil recruitment but paradoxically exacerbates concurrent viral infection in vivo
PMID: 15472341
Disease Associationsⓘ8
intellectual developmental disorder, X-linked 110Open Targets
0.04Suggestive
male infertilityOpen Targets
0.00Suggestive
acute basophilic leukemiaOpen Targets
0.00Suggestive
HypocalcemiaOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
fungal infectious diseaseOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
skin basal cell carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DEFB103AProtein interaction98%DEFB106BProtein interaction95%DEFB108BProtein interaction87%DEFB107AProtein interaction86%SPAG11BProtein interaction85%RNASE8Shared pathway80%
Tissue Expression6 tissues
Liver
0%
Brain
0%
Lung
0%
Heart
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
DEFB106ADEFB103ADEFB106BDEFB108BDEFB107ASPAG11BRNASE8
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8N104
View on AlphaFold ↗
RankingsWhere DEFB106A stands among ~20K protein-coding genes
  • #15,532of 20,598
    Most Researched15
Genes detectedDEFB106A
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Alterations in gene expression in the caput epididymides of nonobstructive azoospermic men.
PMID: 17928628
Biol Reprod · 2008
1.00
2
Region-specific gene expression in the epididymis of Yak.
PMID: 31404823
Theriogenology · 2019
0.86
3
Human alpha- and beta-defensins block multiple steps in herpes simplex virus infection.
PMID: 17142766
J Immunol · 2006
0.71
4
Production of bioactive human beta-defensin 5 and 6 in Escherichia coli by soluble fusion expression.
PMID: 18595735
Protein Expr Purif · 2008
0.57
5
Unique properties of human β-defensin 6 (hBD6) and glycosaminoglycan complex: sandwich-like dimerization and competition with the chemokine receptor 2 (CCR2) binding site.
PMID: 24970887
J Biol Chem · 2014
0.43