4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
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
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.
1
DEFB119 mediates sperm chemotaxis via CatSper calcium mobilization and its mutations are associated with idiopathic infertility
PMID: 365130702
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: 157726803
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.
Female infertility due to fertilization defectOpen Targets
Rare genetic female infertilityOpen Targets
female infertility due to oocyte meiotic arrestOpen Targets
oocyte maturation defect 14Open Targets
oocyte maturation defect 5Open Targets
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
premature ovarian failure 19Open Targets
female infertility due to zona pellucida defectOpen Targets
oocyte maturation defect 11Open Targets
oocyte maturation defect 3Open Targets
oocyte maturation defect 6Open Targets
oocyte maturation defect 7Open Targets
oocyte/zygote/embryo maturation arrest 18Open Targets
oocyte/zygote/embryo maturation arrest 19Open Targets
oocyte/zygote/embryo maturation arrest 17Open Targets
oocyte/zygote/embryo maturation arrest 20Open Targets
invasive hydatidiform moleOpen Targets
response to xenobiotic stimulusOpen Targets
spermatogenic failure 12Open Targets
No pathogenic variants reported on ClinVar for this gene.