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4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DEFB119
defensin beta 119
Chromosome 20 · 20q11.21
NCBI Gene: 245932Ensembl: ENSG00000180483.7HGNC: HGNC:18099UniProt: Q5GRG0
17PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
defense response to Gram-negative bacteriumdefense response to Gram-positive bacteriumextracellular regionFemale infertility due to fertilization defectRare genetic female infertilityfemale infertility due to oocyte meiotic arrestoocyte maturation defect 14
✦AI Summary

DEFB119 (defensin beta 119) is a beta-defensin gene located on chromosome 20.1 that functions as a physiological sperm chemoattractant and possesses antimicrobial activity. Primary function: DEFB119 serves as a critical mediator of sperm chemotaxis, with the female reproductive tract epithelium and cumulus-oocyte complex secreting DEFB119 to guide sperm toward the egg 1. Mechanism: The protein elicits calcium mobilization via the CatSper channel in capacitated sperm, inducing directional chemotaxis 1. DEFB119 belongs to a diverse family of cationic antimicrobial peptides characterized by six conserved cysteine residues 2. The gene is differentially regulated by androgens and shows expression restricted to the male reproductive tract 2. Disease relevance: Exon mutations in DEFB119 have been identified in women with idiopathic infertility, correlating with reduced follicular fluid DEFB119 levels 1. Clinical significance: DEFB119 levels in follicular fluid correlate with chemotactic potency and predict infertile outcomes, suggesting potential diagnostic applications for infertility assessment 1. Additionally, DEFB119 has been identified as a potential drug target for lung cancer through proteome-wide Mendelian randomization analysis 3.

Sources cited
1
DEFB119 mediates sperm chemotaxis via CatSper calcium mobilization and its mutations are associated with idiopathic infertility
PMID: 36513070
2
DEFB119 is a beta-defensin gene on chromosome 20q11.1 with antimicrobial function, androgen-regulated expression in male reproductive tract, and evolutionary origin from gene duplication
PMID: 15772680
3
DEFB119 was identified as a potential drug target for lung cancer through proteome-wide Mendelian randomization analysis
PMID: 39933395
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Female infertility due to fertilization defectOpen Targets
0.08Suggestive
Rare genetic female infertilityOpen Targets
0.07Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.06Suggestive
oocyte maturation defect 14Open Targets
0.06Suggestive
oocyte maturation defect 5Open Targets
0.06Suggestive
hypertensionOpen Targets
0.06Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.05Suggestive
premature ovarian failure 19Open Targets
0.05Suggestive
female infertility due to zona pellucida defectOpen Targets
0.05Suggestive
oocyte maturation defect 11Open Targets
0.05Suggestive
oocyte maturation defect 3Open Targets
0.05Suggestive
oocyte maturation defect 6Open Targets
0.05Suggestive
oocyte maturation defect 7Open Targets
0.05Suggestive
oocyte/zygote/embryo maturation arrest 18Open Targets
0.05Suggestive
oocyte/zygote/embryo maturation arrest 19Open Targets
0.05Suggestive
oocyte/zygote/embryo maturation arrest 17Open Targets
0.05Suggestive
oocyte/zygote/embryo maturation arrest 20Open Targets
0.05Suggestive
invasive hydatidiform moleOpen Targets
0.05Suggestive
response to xenobiotic stimulusOpen Targets
0.04Suggestive
spermatogenic failure 12Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DEFB125Protein interaction89%DEFB105AProtein interaction85%DEFB115Protein interaction85%DEFB121Protein interaction82%DEFB1Protein interaction82%DEFB118Protein interaction82%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
0%
Brain
0%
Ovary
0%
Heart
0%
Lung
0%
Gene Interaction Network
Click a node to explore
DEFB119DEFB125DEFB105ADEFB115DEFB121DEFB1DEFB118
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5GRG0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.77LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.95 [0.49–1.77]
RankingsWhere DEFB119 stands among ~20K protein-coding genes
  • #14,975of 20,598
    Most Researched17
  • #16,449of 17,882
    Most Constrained (LOEUF)1.77
Genes detectedDEFB119
Sources retrieved4 papers
Response time—
📄 Sources
4
1
β-Defensin 19/119 mediates sperm chemotaxis and is associated with idiopathic infertility.
PMID: 36513070
Cell Rep Med · 2022
1.00
2
Identification of potential drug targets for four site-specific cancers by integrating human plasma proteome with genome.
PMID: 39933395
J Pharm Biomed Anal · 2025
0.75
3
Identification, characterization, and evolution of a primate beta-defensin gene cluster.
PMID: 15772680
Genes Immun · 2005
0.50
4
The Search for Molecular Markers in a Gene-Orphan Case Study of a Pediatric Spinal Cord Pilocytic Astrocytoma.
PMID: 32108034
Cancer Genomics Proteomics · 2020
0.25