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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.
DEFB134
defensin beta 134
Chromosome 8 Β· 8p23.1
NCBI Gene: 613211Ensembl: ENSG00000205882.9HGNC: HGNC:32399UniProt: Q4QY38
3PubMed Papers
11Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Swiss-Prot Reviewed
innate immune responseextracellular regionosteoarthritisneurodegenerative diseaserisk-taking behaviourplacenta praevia
✦AI Summary

Based on limited published evidence, DEFB134 encodes a defensin with antibacterial activity. The gene is located in the 8p23.1 region, where it was identified in a larger deletion associated with congenital diaphragmatic hernia and cardiac defects 1. Additionally, DEFB134 shows notable copy number variations (CNVs) with high gene copy numbers in patients experiencing ventricular fibrillation during ST-elevation acute myocardial infarction, suggesting potential involvement in cardiac pathology 2. However, direct functional studies on DEFB134 are limited.

Sources cited
1
DEFB134 deletion identified in 8p23.1 region associated with congenital diaphragmatic hernia and cardiac defects
PMID: 23696316
2
DEFB134 shows notable copy number variations in patients with ventricular fibrillation during acute myocardial infarction
PMID: 38473795
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜11
osteoarthritisOpen Targets
0.35Weak
neurodegenerative diseaseOpen Targets
0.24Weak
risk-taking behaviourOpen Targets
0.16Weak
placenta praeviaOpen Targets
0.14Weak
mathematical abilityOpen Targets
0.11Weak
denturesOpen Targets
0.05Suggestive
intellectual developmental disorder, X-linked 110Open Targets
0.04Suggestive
Chronic Obstructive AsthmaOpen Targets
0.02Suggestive
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.01Suggestive
diabetes mellitusOpen Targets
0.00Suggestive
cardiovascular diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes

No related genes found for this gene.

Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network

No interaction data available for this gene.

PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q4QY38
View on AlphaFold β†—
RankingsWhere DEFB134 stands among ~20K protein-coding genes
  • #18,838of 20,598
    Most Researched3
Genes detectedDEFB134
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Analysis of the Association between Copy Number Variation and Ventricular Fibrillation in ST-Elevation Acute Myocardial Infarction.
PMID: 38473795
Int J Mol Sci Β· 2024
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