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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FBLN2
fibulin 2
Chromosome 3 · 3p25.1
NCBI Gene: 2199Ensembl: ENSG00000163520.15HGNC: HGNC:3601UniProt: P98095
62PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular vesicleprotein bindingextracellular matrixextracellular regionAbnormality of the skeletal systemInguinal herniaHerniaalcohol drinking
✦AI Summary

FBLN2 (fibulin-2) is a secreted extracellular matrix glycoprotein that functions as a calcium-dependent adapter mediating interactions between fibronectin, fibrillin-1, and elastin. 1 It is essential for basement membrane integrity and microfibril organization in tissues including mammary epithelium and lung vasculature. 2 Mechanistically, FBLN2 exerts context-dependent regulatory functions. In neural tissue, it inhibits oligodendrocyte maturation through Notch pathway engagement, impairing remyelination in demyelinating diseases. 1 In gastric cancer, FBLN2 suppresses proliferation and metastasis via the TGFβ/TGIF2 axis and promotes anoikis (detachment-induced apoptosis), opposing ITGBL1-mediated pro-metastatic signaling. 3 In hepatic disease, FBLN2 marks a highly profibrotic and proinflammatory hepatic stellate cell subpopulation that expands dramatically in alcoholic hepatitis. 4 FBLN2 also associates with myoepithelial differentiation markers in mammary epithelium. 2 Clinically, FBLN2 variants show limited genetic evidence for pulmonary arterial hypertension causality, identified through rare variant analysis in large international cohorts. 5 6 In breast cancer, FBLN2 expression correlates with better prognosis in early-stage disease but worse prognosis in advanced lesions, suggesting stage-dependent prognostic relevance. 2

Sources cited
1
FBLN2 is upregulated in MS lesions and inhibits oligodendrocyte maturation through Notch pathway engagement, impairing remyelination
PMID: 38743490
2
FBLN2 suppresses gastric cancer proliferation and metastasis via TGFβ/TGIF2 pathway inhibition
PMID: 40168772
3
FBLN2 functions in the AKT/FBLN2 axis to regulate anoikis resistance and metastasis in gastric cancer
PMID: 38332530
4
FBLN2 marks a highly profibrotic Lrat+Fbln2+ HSC subpopulation that expands 44-fold in alcoholic hepatitis
PMID: 36181700
5
FBLN2 is required for basement membrane integrity in mammary epithelium and associates with myoepithelial markers; expression correlates with prognosis in breast cancer subtypes
PMID: 39110274
6
FBLN2 variants identified as new candidate gene for pulmonary arterial hypertension through rare variant analysis in 4241 cases
PMID: 33971972
7
FBLN2 classified as having limited evidence for causal effects in pulmonary arterial hypertension
PMID: 37422716
8
FBLN2 marks PDGFRα+ fibroblast subset that expands in gastric metaplasia and cancer and promotes dysplastic transition
PMID: 37196797
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.51Moderate
Inguinal herniaOpen Targets
0.43Moderate
HerniaOpen Targets
0.42Moderate
alcohol drinkingOpen Targets
0.33Weak
COVID-19Open Targets
0.31Weak
tooth diseaseOpen Targets
0.28Weak
cervical carcinomaOpen Targets
0.27Weak
ovarian neoplasmOpen Targets
0.26Weak
fungal infectious diseaseOpen Targets
0.25Weak
hepatocellular carcinomaOpen Targets
0.22Weak
prostate adenocarcinomaOpen Targets
0.22Weak
pancreatic adenocarcinomaOpen Targets
0.21Weak
head and neck squamous cell carcinomaOpen Targets
0.21Weak
non-small cell lung carcinomaOpen Targets
0.19Weak
lung adenocarcinomaOpen Targets
0.19Weak
esophageal squamous cell carcinomaOpen Targets
0.19Weak
gliomaOpen Targets
0.19Weak
astrocytomaOpen Targets
0.19Weak
breast carcinomaOpen Targets
0.19Weak
oral squamous cell carcinomaOpen Targets
0.19Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EDIL3Shared pathway100%HSPG2Protein interaction100%MFAP2Protein interaction100%MFAP5Protein interaction98%POSTNProtein interaction92%NID1Protein interaction92%
Tissue Expression6 tissues
Heart
100%
Lung
19%
Liver
3%
Ovary
2%
Bone Marrow
2%
Brain
2%
Gene Interaction Network
Click a node to explore
FBLN2EDIL3HSPG2MFAP2MFAP5POSTNNID1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P98095
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.94LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.78 [0.65–0.94]
RankingsWhere FBLN2 stands among ~20K protein-coding genes
  • #7,454of 20,598
    Most Researched62
  • #8,671of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedFBLN2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
ITGBL1 promotes anoikis resistance and metastasis in human gastric cancer via the AKT/FBLN2 axis.
PMID: 38332530
J Cell Mol Med · 2024
1.00
2
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
PMID: 37422716
Genet Med · 2023
0.90
3
Apposition of Fibroblasts With Metaplastic Gastric Cells Promotes Dysplastic Transition.
PMID: 37196797
Gastroenterology · 2023
0.80
4
Emergence of highly profibrotic and proinflammatory Lrat+Fbln2+ HSC subpopulation in alcoholic hepatitis.
PMID: 36181700
Hepatology · 2023
0.70
5
Fibulin-2 is an extracellular matrix inhibitor of oligodendrocytes relevant to multiple sclerosis.
PMID: 38743490
J Clin Invest · 2024
0.60