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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FBLN1
fibulin 1
Chromosome 22 · 22q13.31
NCBI Gene: 2192Ensembl: ENSG00000077942.20HGNC: HGNC:3600UniProt: A0A8S0LWY1
144PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
integrin bindingGO:0005615extracellular exosomeelastic fibersynpolydactyly type 2Syndactyly type 2FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromegastroesophageal reflux disease
✦AI Summary

FBLN1 (fibulin-1) is an extracellular matrix (ECM) glycoprotein with dual roles in structural organization and disease regulation. Located on chromosome 22.2-q13.3, FBLN1 functions as a calcium-binding protein incorporated into fibronectin-containing matrix fibers, facilitating cell adhesion and migration along ECM protein scaffolds 1. The protein regulates multiple signaling pathways, including negative regulation of cell motility and ERK1/2 cascade signaling. FBLN1 acts as a tumor suppressor with established significance in cancer biology. In cutaneous melanoma, FBLN1 expression is frequently silenced through promoter hypermethylation, correlating with tumor progression and reduced overall survival 2. Similarly, melanoma patients with higher FBLN1 expression demonstrate significantly better survival outcomes 3. FBLN1 serves as a biomarker for colorectal cancer, with reduced serum levels distinguishing CRC from benign polyps with 91.8% sensitivity and 100% specificity 4, and emerging evidence supports its role in predicting cetuximab therapy response 5. Beyond oncology, FBLN1 regulates ferroptosis in acute respiratory distress syndrome by inhibiting the TGF-β/Smad pathway, reducing oxidative stress and ferrous iron accumulation 6. In bone biology, circular FBLN1 promotes osteogenic differentiation of mesenchymal stem cells via the let-7i-5p/FZD4 axis and Wnt/β-catenin pathway 7, while FBLN1 enhances chondrocyte proliferation through Smad2 phosphorylation in osteoarthritis 8.

Sources cited
1
FBLN1 gene location on human chromosome 22q13.2-q13.3 and characterization as a calcium-binding glycoprotein in ECM and serum
PMID: 7806231
2
FBLN1 is a tumor suppressor gene inactivated by promoter hypermethylation in cutaneous melanoma, associated with tumor progression and poor survival
PMID: 23907575
3
FBLN1 is significantly downregulated in melanoma with higher expression associated with better overall survival (log-rank p=0.0034)
PMID: 33470885
4
Serum FBLN1 distinguishes colorectal cancer from benign polyps with 91.8% sensitivity and 100% specificity as a biomarker
PMID: 29715435
5
FBLN1 is identified as a potential biomarker for initial response prediction in colorectal cancer patients receiving cetuximab therapy
PMID: 38302471
6
FBLN1 regulates ferroptosis in acute respiratory distress syndrome by inhibiting the TGF-β/Smad signaling pathway
PMID: 39671383
7
Circular FBLN1 promotes osteogenic differentiation and proliferation of bone marrow-derived mesenchymal stem cells via let-7i-5p/FZD4 axis and Wnt/β-catenin pathway
PMID: 34424449
8
FBLN1 promotes chondrocyte proliferation in knee osteoarthritis through Smad2 phosphorylation
PMID: 33610427
Disease Associationsⓘ20
synpolydactyly type 2Open Targets
0.45Moderate
Syndactyly type 2Open Targets
0.43Moderate
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeOpen Targets
0.37Weak
gastroesophageal reflux diseaseOpen Targets
0.32Weak
adolescent idiopathic scoliosisOpen Targets
0.32Weak
multiple sclerosisOpen Targets
0.32Weak
benign prostatic hyperplasiaOpen Targets
0.25Weak
metabolic diseaseOpen Targets
0.21Weak
cholelithiasisOpen Targets
0.19Weak
hypertrophic cardiomyopathyOpen Targets
0.14Weak
arthrogryposis multiplex congenitaOpen Targets
0.12Weak
fetal akinesia deformation sequenceOpen Targets
0.12Weak
fetal akinesia deformation sequence 1Open Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
atrial septal defect 1Open Targets
0.08Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.08Suggestive
atrial heart septal defectOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FN1Protein interaction100%HSPG2Protein interaction99%MFAP2Protein interaction95%CCN2Protein interaction94%RASSF8Protein interaction93%FBLN2Protein interaction90%
Tissue Expression6 tissues
Heart
100%
Lung
85%
Ovary
49%
Brain
12%
Liver
3%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
FBLN1FN1HSPG2MFAP2CCN2RASSF8FBLN2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P23142
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.95Intolerant
Observed/Expected LoF0.37 [0.28–0.50]
RankingsWhere FBLN1 stands among ~20K protein-coding genes
  • #3,161of 20,598
    Most Researched144 · top quartile
  • #2,963of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedFBLN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Abnormal hypermethylation and clinicopathological significance of FBLN1 gene in cutaneous melanoma.
PMID: 23907575
Tumour Biol · 2014
1.00
2
Longitudinal plasma proteome profiling reveals the diversity of biomarkers for diagnosis and cetuximab therapy response of colorectal cancer.
PMID: 38302471
Nat Commun · 2024
0.90
3
FBLN1 regulates ferroptosis in acute respiratory distress syndrome by reducing free ferrous iron by inhibiting the TGF-β/Smad pathway.
PMID: 39671383
PLoS One · 2024
0.80
4
The fibulin-1 gene (FBLN1) is located on human chromosome 22 and on mouse chromosome 15.
PMID: 7806231
Genomics · 1994
0.70
5
Circ_FBLN1 promotes the proliferation and osteogenic differentiation of human bone marrow-derived mesenchymal stem cells by regulating let-7i-5p/FZD4 axis and Wnt/β-catenin pathway.
PMID: 34424449
J Bioenerg Biomembr · 2021
0.60