FBLN7
Fibulin 7
Gene Information Card
| Symbol | FBLN7 |
|---|---|
| Full Name | fibulin 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q13 |
| NCBI Gene ID | 129804 ncbi.nlm.nih.gov/gene/129804 |
| Ensembl ID | ENSG00000144136 |
| UniProt ID | Q53RD9 |
| OMIM ID | 611082 |
| HGNC ID | 21386 |
| Aliases | TM14, FIBL-7 |
Description
FBLN7 (fibulin 7) encodes a secreted extracellular matrix protein belonging to the fibulin family. It contains EGF-like domains and a C-terminal fibulin-type domain, and is involved in cell adhesion, migration, and matrix organization. FBLN7 is expressed in various tissues, notably in the eye, cartilage, and blood vessels.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Age-related macular degeneration | Altered ECM integrity; FBLN7 variants may affect Bruch's membrane stability | PMID: 23455636 |
| Osteoarthritis | Reduced FBLN7 expression in cartilage may contribute to matrix degradation | PMID: 25687183 |
| Corneal dystrophy | Mutations in FBLN7 associated with lattice corneal dystrophy type III | PMID: 26992781 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose | 5.2 | Low |
| Brain | 3.1 | Low |
| Eye | 28.7 | High |
| Heart | 6.8 | Medium |
| Kidney | 4.5 | Low |
| Liver | 2.3 | Low |
| Lung | 7.1 | Medium |
| Muscle | 3.9 | Low |
| Ovary | 4.8 | Low |
| Placenta | 6.2 | Medium |
| Skin | 8.5 | Medium |
| Testis | 5.6 | Low |
| Thyroid | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 32.4 | High expression |
| HUVEC (umbilical vein endothelial) | 12.1 | Moderate expression |
| HEK 293 (embryonic kidney) | 2.8 | Low expression |
| HepG2 (hepatocellular carcinoma) | 1.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Cys) | Missense | <0.01% | Reported in corneal dystrophy; may disrupt disulfide bonding |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Associated with age-related macular degeneration; functional impact unknown |
| c.1489_1491del (p.Glu497del) | In-frame deletion | <0.01% | Predicted to alter protein structure; observed in osteoarthritis |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function variants (e.g., nonsense, frameshift) are rare and may lead to reduced ECM integrity, potentially contributing to tissue fragility.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for FBLN7.
Dominant Negative (DN)
Missense mutations in EGF-like domains may exert dominant-negative effects by interfering with protein-protein interactions in the ECM.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • calcium ion binding |
| • cell adhesion | • extracellular matrix organization |
| • angiogenesis | • negative regulation of cell migration |
Pathways
• ECM-receptor interaction
• Integrin signaling pathway
• Focal adhesion
Protein Summary
Fibulin 7 is a secreted glycoprotein of approximately 55 kDa that localizes to the extracellular matrix. It contains five EGF-like calcium-binding domains and a C-terminal fibulin-type domain. The protein interacts with integrins and other ECM components, modulating cell adhesion and migration. FBLN7 is highly expressed in the eye, particularly in the retinal pigment epithelium and Bruch's membrane, and plays a role in maintaining tissue integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBLN7 Knockout HEK293 Cell Line | EDJ-KQ9224 | Human | 129804 | Details Get a Quote |
| FBLN7 Knockout HeLa Cell Line | EDJ-KQ35799 | Human | 129804 | Details Get a Quote |
| FBLN7 Knockout A-549 Cell Line | EDJ-KQ66754 | Human | 129804 | Details Get a Quote |
| FBLN7 Knockout HCT 116 Cell Line | EDJ-KQ75161 | Human | 129804 | Details Get a Quote |
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