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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DEFB126
defensin beta 126
Chromosome 20 · 20p13
NCBI Gene: 81623Ensembl: ENSG00000125788.6HGNC: HGNC:15900UniProt: A0A384MDP8
21PubMed Papers
11Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
defense response to Gram-negative bacteriumantimicrobial humoral immune response mediated by antimicrobial peptideextracellular regionHypoventilationsleep apneainfertilityvaricocele
✦AI Summary

DEFB126 encodes an atypical beta-defensin that plays critical roles in sperm function and male fertility. This highly glycosylated protein consists of a conserved beta-defensin core and a unique long glycosylated peptide tail that becomes adsorbed onto the entire sperm surface during epididymal maturation 1. DEFB126 facilitates sperm transport through cervical mucus via its high negative charge, which appears critical for sperm penetration 2. The protein protects sperm from immune recognition in the female reproductive tract, with the sialic acid moieties providing immune cloaking properties 3. DEFB126 is positively correlated with sperm motility and morphology, with higher proportions found in motile sperm 4. A common 2-nucleotide deletion in the DEFB126 gene results in a null allele associated with male subfertility and altered sperm glycocalyx 15. Men homozygous for this deletion show reduced clinical pregnancy rates following intrauterine insemination but not IVF/ICSI 5. Additionally, the beta-defensin core exhibits antimicrobial activity and can inhibit LPS-mediated inflammation by downregulating pro-inflammatory cytokines and blocking MAPK signaling pathways 6. These findings establish DEFB126 as a multifunctional protein essential for male reproductive success.

Sources cited
1
DEFB126 is an atypical beta-defensin that becomes adsorbed to sperm surface during epididymal maturation and has a common deletion variant
PMID: 22710670
2
DEFB126 facilitates sperm penetration of cervical mucus through its high negative charge
PMID: 18658160
3
DEFB126 protects sperm from immune recognition with sialic acid moieties providing immune cloaking
PMID: 16079310
4
DEFB126 is positively correlated with sperm motility and morphology
PMID: 31504198
5
2-nucleotide deletion affects IUI but not IVF/ICSI pregnancy rates
PMID: 31474436
6
DEFB126 core exhibits antimicrobial activity and inhibits LPS-mediated inflammation via MAPK pathway blockade
PMID: 23229569
Disease Associationsⓘ11
HypoventilationOpen Targets
0.33Weak
sleep apneaOpen Targets
0.02Suggestive
infertilityOpen Targets
0.00Suggestive
varicoceleOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
cervical adenocarcinomaOpen Targets
0.00Suggestive
azoospermiaOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
Reduced sperm motilityOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DEFB125Protein interaction89%DEFB118Protein interaction87%DEFB128Protein interaction83%DEFB1Protein interaction82%DEFB129Protein interaction82%DEFB121Protein interaction82%
Tissue Expression6 tissues
Lung
0%
Brain
0%
Ovary
0%
Bone Marrow
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
DEFB126DEFB125DEFB118DEFB128DEFB1DEFB129DEFB121
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9BYW3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.70LoF Tolerant
pLIⓘ
0.27Tolerant
Observed/Expected LoF0.45 [0.15–1.70]
RankingsWhere DEFB126 stands among ~20K protein-coding genes
  • #13,885of 20,598
    Most Researched21
  • #16,090of 17,882
    Most Constrained (LOEUF)1.70
Genes detectedDEFB126
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Lectin binding of human sperm associates with DEFB126 mutation and serves as a potential biomarker for subfertility.
PMID: 26832966
Sci Rep · 2016
1.00
2
PMID: 35381696
Asian J Androl · 2022
0.90
3
Beta-defensin126 is correlated with sperm motility in fertile and infertile men†.
PMID: 31504198
Biol Reprod · 2020
0.80
4
Multifunctional glycoprotein DEFB126--a curious story of defensin-clad spermatozoa.
PMID: 22710670
Nat Rev Urol · 2012
0.70
5
Beta-defensin 126 on the cell surface protects sperm from immunorecognition and binding of anti-sperm antibodies.
PMID: 16079310
Biol Reprod · 2005
0.60