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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.
DEFB135
defensin beta 135
Chromosome 8 Β· 8p23.1
NCBI Gene: 613209Ensembl: ENSG00000205883.3HGNC: HGNC:32400UniProt: Q30KP9
3PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membrane destabilizing activitykilling of cells of another organisminnate immune responsedefense response to Gram-negative bacteriumdrug allergyneurodegenerative diseasemathematical abilityatrial fibrillation
✦AI Summary

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.

Sources cited
1
DEFB135 identified as a shared protective circulating protein against heart failure and atrial fibrillation through Mendelian randomization analysis
PMID: 40629581
2
DEFB135 located within 8p23.1 deletion region associated with congenital diaphragmatic hernia and cardiac defects
PMID: 23696316
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
drug allergyOpen Targets
0.28Weak
neurodegenerative diseaseOpen Targets
0.23Weak
mathematical abilityOpen Targets
0.10Weak
atrial fibrillationOpen Targets
0.07Suggestive
hypertensionOpen Targets
0.07Suggestive
essential hypertensionOpen Targets
0.07Suggestive
obesityOpen Targets
0.07Suggestive
aortic valve diseaseOpen Targets
0.06Suggestive
overnutritionOpen Targets
0.05Suggestive
hypothyroidismOpen Targets
0.05Suggestive
dilated cardiomyopathyOpen Targets
0.05Suggestive
asthmaOpen Targets
0.04Suggestive
chronic rhinosinusitisOpen Targets
0.03Suggestive
osteoarthritisOpen Targets
0.03Suggestive
Chronic Obstructive AsthmaOpen Targets
0.03Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
rheumatoid arthritisOpen Targets
0.02Suggestive
familial pancreatic carcinomaOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lymphomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
DEFB115Shared pathway100%DEFB123Shared pathway100%DEFB132Shared pathway100%DEFB121Protein interaction83%DEFB134Protein interaction83%DEFB124Protein interaction82%
Tissue Expression6 tissues
Heart
0%
Brain
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
DEFB135DEFB115DEFB123DEFB132DEFB121DEFB134DEFB124
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q30KP9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.95LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.70 [1.06–1.95]
RankingsWhere DEFB135 stands among ~20K protein-coding genes
  • #18,839of 20,598
    Most Researched3
  • #17,706of 17,882
    Most Constrained (LOEUF)1.95
Genes detectedDEFB135
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Causal relationships between 4907 circulating proteins and heart failure and atrial fibrillation: A bidirectional Mendelian randomization study.
PMID: 40629581
Medicine (Baltimore) Β· 2025
1.00
2
Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects.
PMID: 23696316
Am J Med Genet A Β· 2013
0.50