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GeneE
2 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.
DEFB129
defensin beta 129
Chromosome 20 Β· 20p13
NCBI Gene: 140881Ensembl: ENSG00000125903.4HGNC: HGNC:16218UniProt: A0A384MEC8
11PubMed Papers
13Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingextracellular regionneurodegenerative diseaseneoplasmintracerebral hemorrhageovarian cancer
✦AI Summary

Based on limited published evidence, DEFB129 encodes a beta-defensin with antibacterial activity and protein-binding capacity. DEFB129 was identified as upregulated in the caput epididymidis of fertile men compared to infertile men with nonobstructive azoospermia 1, suggesting a role in male reproductive function. Additionally, DEFB129 gene amplification in the 20p13 chr20 region was detected in tongue cancer recurrence tissue from young adults 2, though its functional significance in cancer pathogenesis remains unclear.

Sources cited
1
DEFB129 was upregulated in caput epididymidis of fertile men versus infertile men with nonobstructive azoospermia, implicating it in reproductive function
PMID: 17928628
2
DEFB129 gene amplification detected in 20p13 region in tongue cancer recurrence tissue from young adults
PMID: 39127975
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜13
neurodegenerative diseaseOpen Targets
0.39Weak
neoplasmOpen Targets
0.04Suggestive
intracerebral hemorrhageOpen Targets
0.03Suggestive
ovarian cancerOpen Targets
0.01Suggestive
ovarian neoplasmOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
obstructive sleep apneaOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
ovarian carcinomaOpen Targets
0.00Suggestive
peritoneum cancerOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
ebv-positive nodal t- and nk-cell lymphomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
DEFB125Protein interaction89%DEFB118Protein interaction87%DEFB127Protein interaction86%DEFB128Protein interaction83%DEFB126Protein interaction82%DEFB121Protein interaction82%
Tissue Expression6 tissues
Liver
0%
Ovary
0%
Brain
0%
Heart
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
DEFB129DEFB125DEFB118DEFB127DEFB128DEFB126DEFB121
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9H1M3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.48LoF Tolerant
pLIβ“˜
0.22Tolerant
Observed/Expected LoF0.49 [0.20–1.48]
RankingsWhere DEFB129 stands among ~20K protein-coding genes
  • #16,730of 20,598
    Most Researched11
  • #15,031of 17,882
    Most Constrained (LOEUF)1.48
Genes detectedDEFB129
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Genetic Features of Tongue Cancer Recurrence in Young Adults.
PMID: 39127975
Bull Exp Biol Med Β· 2024
1.00
2
Alterations in gene expression in the caput epididymides of nonobstructive azoospermic men.
PMID: 17928628
Biol Reprod Β· 2008
0.50