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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FBLN7
fibulin 7
Chromosome 2 · 2q13-q14.1
NCBI Gene: 129804Ensembl: ENSG00000144152.14HGNC: HGNC:26740UniProt: Q53RD9
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
focal adhesionGO:0005615extracellular matrixcalcium ion bindingvein disorderhypertensionessential hypertensionlymphatic system disease
✦AI Summary

FBLN7 (fibulin 7) is a secreted glycoprotein and matricellular adhesion molecule that functions as an extracellular matrix regulator with diverse tissue-specific roles. Originally identified in developing teeth where it supports odontoblast differentiation and dentin formation [UniProt], FBLN7 is expressed in specialized tissues including cartilage, eye, placenta, and vascular tissue 1. Mechanistically, FBLN7 binds multiple partners through its N-terminal coiled-coil domain and EGF-like domains: it interacts with heparan sulfate proteoglycans for cell surface anchoring 2, binds EGFR to activate FAK/AKT signaling 3, engages integrin α5β1 for cell adhesion 4, and modulates angiopoietin-1/Tie2 signaling 5. Pathologically, FBLN7 promotes adverse cardiac remodeling and fibrosis after myocardial infarction 3, mediates renal tubular calcification and calcium oxalate-induced kidney injury through crystal binding 26, and is overexpressed in glioblastomas where it drives aberrant neovascularization 5. Conversely, its C-terminal fragment exhibits antiangiogenic activity through VEGFR2 inhibition 4. Rare variants in FBLN7 associate with varicose vein susceptibility 7. These findings suggest FBLN7's therapeutic potential both as a target for inhibition in fibrotic/angiogenic diseases and as a bioactive fragment for antiangiogenic applications.

Sources cited
1
FBLN7 functions as a cell adhesion molecule interacting with ECM proteins and cell receptors; full-length and C-terminal fragments inhibit angiogenesis through VEGFR2 binding and integrin α5β1 interactions
PMID: 30518776
2
FBLN7 is upregulated in MI patients with left ventricular remodeling; promotes cardiac fibrosis and myofibroblast transdifferentiation through EGFR-FAK/AKT signaling
PMID: 37344348
3
FBLN7 is highly expressed in renal tubular epithelium and mediates calcification by binding calcium phosphate particles through N-terminal coiled-coil domain interaction with heparan sulfate proteoglycans
PMID: 29730503
4
FBLN7 deletion protects from calcium oxalate-induced acute kidney injury by reducing crystal-induced tubular epithelial damage
PMID: 36370444
5
FBLN7 is overexpressed in glioblastomas in endothelial cells and pericytes; modulates aberrant neovascularization by binding angiopoietin-1 and blocking Tie2 receptor phosphorylation
PMID: 30924128
6
FBLN7 identified as a rare variant gene associated with varicose vein susceptibility
PMID: 38980841
7
FBLN7 and its C-terminal fragment exhibit immunomodulatory and antiangiogenic properties relevant to sepsis, kidney injury, and cancer pathophysiology
PMID: 40622395
Disease Associationsⓘ20
vein disorderOpen Targets
0.44Moderate
hypertensionOpen Targets
0.42Moderate
essential hypertensionOpen Targets
0.42Moderate
lymphatic system diseaseOpen Targets
0.40Weak
Varicose veinsOpen Targets
0.34Weak
bile duct disorderOpen Targets
0.32Weak
neurodegenerative diseaseOpen Targets
0.31Weak
gastrointestinal diseaseOpen Targets
0.28Weak
Tietze syndromeOpen Targets
0.15Weak
Abnormality of the skeletal systemOpen Targets
0.14Weak
myocardial infarctionOpen Targets
0.08Suggestive
familial juvenile hyperuricemic nephropathy type 1Open Targets
0.07Suggestive
spinal fractureOpen Targets
0.06Suggestive
Hyperuricemia - anemia - renal failureOpen Targets
0.06Suggestive
primary hyperoxaluria type 2Open Targets
0.05Suggestive
karyomegalic interstitial nephritisOpen Targets
0.05Suggestive
familial juvenile hyperuricemic nephropathy type 2Open Targets
0.05Suggestive
Dent diseaseOpen Targets
0.04Suggestive
Dent disease type 1Open Targets
0.04Suggestive
hypoxanthine guanine phosphoribosyltransferase partial deficiencyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMEM87BProtein interaction76%DSPPProtein interaction71%
Tissue Expression6 tissues
Brain
100%
Liver
44%
Heart
26%
Lung
21%
Bone Marrow
9%
Ovary
8%
Gene Interaction Network
Click a node to explore
FBLN7TMEM87BDSPP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q53RD9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.57–1.03]
RankingsWhere FBLN7 stands among ~20K protein-coding genes
  • #14,427of 20,598
    Most Researched19
  • #10,264of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedFBLN7
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
PMID: 26227573
Am J Med Genet A · 2015
1.00
2
Extracellular Protein Fibulin-7 and Its C-Terminal Fragment Have In Vivo Antiangiogenic Activity.
PMID: 30518776
Sci Rep · 2018
0.90
3
Fibulin7 Mediated Pathological Cardiac Remodeling through EGFR Binding and EGFR-Dependent FAK/AKT Signaling Activation.
PMID: 37344348
Adv Sci (Weinh) · 2023
0.80
4
Fibulin7 aggravates calcium oxalate-induced acute kidney injury by binding to calcium oxalate crystals.
PMID: 36370444
J Cell Physiol · 2023
0.70
5
Fibulin-7, a heparin binding matricellular protein, promotes renal tubular calcification in mice.
PMID: 29730503
Matrix Biol · 2018
0.60