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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DEFA1B
defensin alpha 1B
Chromosome 8 · 8p23.1
NCBI Gene: 728358Ensembl: ENSG00000206047.5HGNC: HGNC:2761UniProt: P59665
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
IGA glomerulonephritisbreast cancerneoplasmSepsis
✦AI Summary

DEFA1B (defensin alpha 1B) is an antimicrobial peptide of the innate immune system with emerging roles in infectious and inflammatory diseases. As a defensin, DEFA1B functions as an antimicrobial molecule with direct antiviral activity; notably, it inhibits Zika virus replication primarily through extracellular mechanisms before viral cell entry 1. Beyond antiviral defense, DEFA1B modulates host cellular responses by interacting with origin recognition complex 1 (ORC1) to retard cell cycle progression 1, suggesting roles in controlling cellular proliferation during immune challenges. DEFA1B expression is significantly upregulated across multiple disease contexts. During active Behçet's disease with neurological involvement (neuro-Behçet's disease), DEFA1B and NLRP3 represent the most remarkably upregulated genes and serve as biomarkers for disease activity estimation 2. In thyroid orbitopathy, DEFA1B is overexpressed 3.05-4.14 fold in active disease, implicating it in innate immune-mediated orbital inflammation 3. Elevated DEFA1B predicts Crohn's disease development up to 16 years before diagnosis, ranking among the top nine predictive proteins in machine learning models (AUC 0.76-0.79) 4. Additionally, DEFA1B serves as a prognostic biomarker for sudden cardiac death and is identified as a hub gene in adult degenerative scoliosis 5, 6. These findings establish DEFA1B as a multifunctional innate immune mediator with significant biomarker potential for early disease detection and prognosis.

Sources cited
1
DEFA1B is among the top 9 protein biomarkers predicting Crohn's disease with high accuracy (AUC 0.76-0.79) up to 16 years before diagnosis
PMID: 41387681
2
DEFA1B expression is significantly increased during active neuro-Behçet's disease attacks and serves as a biomarker for disease activity
PMID: 31471397
3
DEFA1B inhibits Zika virus replication through extracellular mechanisms and retards cell cycle progression by interacting with ORC1
PMID: 33075374
4
DEFA1B is overexpressed 3.05-4.14 fold in active thyroid orbitopathy and involved in innate immune-mediated orbital inflammation
PMID: 26444724
5
DEFA1B is identified as a prognostic biomarker for sudden cardiac death through machine learning analysis
PMID: 36208596
6
DEFA1B is identified as a hub gene linked to adult degenerative scoliosis with disease specificity
PMID: 38103507
7
DEFA1B is among significantly upregulated genes in HIV/TB co-infection, identified as a potential therapeutic target
PMID: 33067206
8
DEFA1B is significantly upregulated in hepatitis B vaccine non-responders across all examined time points
PMID: 29580160
Disease Associationsⓘ20
IGA glomerulonephritisOpen Targets
0.24Weak
breast cancerOpen Targets
0.10Weak
neoplasmOpen Targets
0.09Suggestive
SepsisOpen Targets
0.08Suggestive
colitisOpen Targets
0.08Suggestive
coronary artery diseaseOpen Targets
0.07Suggestive
pulmonary tuberculosisOpen Targets
0.05Suggestive
psoriasisOpen Targets
0.05Suggestive
Duane retraction syndromeOpen Targets
0.05Suggestive
hyperlipidemiaOpen Targets
0.04Suggestive
cancerOpen Targets
0.04Suggestive
Hepatic fibrosisOpen Targets
0.04Suggestive
dental cariesOpen Targets
0.04Suggestive
polycystic ovary syndromeOpen Targets
0.04Suggestive
type 2 diabetes mellitusOpen Targets
0.04Suggestive
Behcet's syndromeOpen Targets
0.04Suggestive
Cognitive impairmentOpen Targets
0.04Suggestive
periodontitisOpen Targets
0.04Suggestive
atherosclerosisOpen Targets
0.03Suggestive
infectious arthritisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DEFB104AProtein interaction96%DEFB103AProtein interaction96%DEFA1Protein interaction92%DEFA4Protein interaction92%DEFB1Protein interaction92%DEFB4AProtein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
19%
Liver
1%
Brain
0%
Ovary
0%
Heart
0%
Gene Interaction Network
Click a node to explore
DEFA1BDEFB104ADEFB103ADEFA1DEFA4DEFB1DEFB4A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P59665
View on AlphaFold ↗
RankingsWhere DEFA1B stands among ~20K protein-coding genes
  • #9,994of 20,598
    Most Researched41
Genes detectedDEFA1B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Plasma proteomic profiles identify biomarkers predicting Crohn's disease up to 16 years before onset.
PMID: 41387681
Nat Commun · 2025
1.00
2
Enhanced NLRP3 and DEFA1B Expression During the Active Stage of Parenchymal Neuro-Behçet's Disease.
PMID: 31471397
In Vivo · 2019
0.90
3
Identification of Significant Genes in HIV/TB via Bioinformatics Analysis.
PMID: 33067206
Ann Clin Lab Sci · 2020
0.80
4
DEFA1B inhibits ZIKV replication and retards cell cycle progression through interaction with ORC1.
PMID: 33075374
Life Sci · 2020
0.70
5
Potential prognostic biomarkers of sudden cardiac death discovered by machine learning.
PMID: 36208596
Comput Biol Med · 2022
0.60