2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
3PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
membrane destabilizing activitykilling of cells of another organisminnate immune responsedefense response to Gram-negative bacteriumdrug allergyneurodegenerative diseasemathematical abilityatrial fibrillation
Based on limited published evidence, DEFB135 is a defensin with antibacterial activity that participates in innate immune responses through membrane destabilization and killing of microbial cells. A 2025 Mendelian randomization study identified DEFB135 as a shared protective circulating protein against both heart failure and atrial fibrillation 1, suggesting potential cardiovascular protective functions beyond antimicrobial immunity. DEFB135 is located within the 8p23.1 critical region associated with congenital diaphragmatic hernia and cardiac defects 2, though its specific role in these conditions remains unclear.
1
DEFB135 identified as a shared protective circulating protein against heart failure and atrial fibrillation through Mendelian randomization analysis
PMID: 406295812
DEFB135 located within 8p23.1 deletion region associated with congenital diaphragmatic hernia and cardiac defects
PMID: 23696316β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
mathematical abilityOpen Targets
atrial fibrillationOpen Targets
essential hypertensionOpen Targets
aortic valve diseaseOpen Targets
overnutritionOpen Targets
hypothyroidismOpen Targets
dilated cardiomyopathyOpen Targets
chronic rhinosinusitisOpen Targets
osteoarthritisOpen Targets
Chronic Obstructive AsthmaOpen Targets
type 2 diabetes mellitusOpen Targets
rheumatoid arthritisOpen Targets
familial pancreatic carcinomaOpen Targets
hepatocellular carcinomaOpen Targets
No pathogenic variants reported on ClinVar for this gene.