FBLN5
Fibulin-5: An Extracellular Matrix Protein in Elastic Fiber Assembly and Vascular Disease
Gene Information Card
| Symbol | FBLN5 |
|---|---|
| Full Name | fibulin 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q32.12 |
| NCBI Gene ID | 10516 ncbi.nlm.nih.gov/gene/10516 |
| Ensembl ID | ENSG00000140092 |
| UniProt ID | Q9UBX5 |
| OMIM ID | 604580 |
| HGNC ID | 3602 |
| Aliases | DANCE, EVEC, UP50, ARMD3, FIBL-5 |
Description
FBLN5 encodes fibulin-5, a secreted extracellular matrix protein that mediates elastic fiber assembly by interacting with tropoelastin and cross-linking enzymes. It is essential for maintaining vascular and dermal elasticity. Mutations in FBLN5 cause autosomal recessive cutis laxa type 1A and contribute to age-related macular degeneration (ARMD3).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cutis laxa, autosomal recessive, type 1A | Loss-of-function mutations impair elastic fiber formation, leading to loose, sagging skin and vascular abnormalities. | OMIM #219100 |
| Age-related macular degeneration 3 (ARMD3) | Missense variants (e.g., p.Gln124Glu) alter fibulin-5 function, increasing susceptibility to drusen accumulation and retinal degeneration. | OMIM #608895 |
| Supravalvular aortic stenosis | Rare FBLN5 variants may disrupt elastogenesis in the aortic wall, contributing to stenosis. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 48.2 | High |
| Artery | 35.7 | High |
| Skin | 28.1 | High |
| Heart | 22.5 | Medium |
| Adipose tissue | 18.9 | Medium |
| Liver | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 42.1 | High expression |
| A549 (lung carcinoma) | 38.5 | High expression |
| MCF7 (breast cancer) | 12.3 | Medium expression |
| HeLa (cervical cancer) | 8.7 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.371A>G (p.Gln124Glu) | Missense | 0.1% in European populations | Associated with ARMD3; alters fibulin-5 binding to elastin |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein; causes cutis laxa type 1A |
| c.617G>A (p.Cys206Tyr) | Missense | Rare | Disrupts disulfide bond; leads to cutis laxa |
| c.1039C>T (p.Arg347*) | Nonsense | Rare | Premature truncation; loss of function in cutis laxa |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations that abolish fibulin-5 production or secretion, leading to cutis laxa type 1A.
Gain of Function (GOF)
Not well documented; some missense variants may alter protein interactions but are typically hypomorphic.
Dominant Negative (DN)
Rare missense variants (e.g., p.Cys206Tyr) may interfere with wild-type fibulin-5 in heterozygous state, contributing to dominant forms of cutis laxa.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix organization | • elastic fiber assembly |
| • cell adhesion | • integrin binding |
| • calcium ion binding |
Pathways
• Elastic fibre formation (Reactome: R-HSA-1566948)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
Protein Summary
Fibulin-5 is a 448-amino acid secreted glycoprotein containing calcium-binding EGF-like domains and an RGD motif. It localizes to elastic fibers in the extracellular matrix, where it cross-links tropoelastin and interacts with integrins to promote cell adhesion. The protein is critical for vascular and dermal elasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBLN5 Knockout HEK293 Cell Line | EDJ-KQ7074 | Human | 10516 | Details Get a Quote |
| FBLN5 Knockout A-549 Cell Line | EDJ-KQ31901 | Human | 10516 | Details Get a Quote |
| FBLN5 Knockout HCT 116 Cell Line | EDJ-KQ31902 | Human | 10516 | Details Get a Quote |
| FBLN5 Knockout HeLa Cell Line | EDJ-KQ31903 | Human | 10516 | Details Get a Quote |
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