FBLN2
Fibulin 2: An Extracellular Matrix Glycoprotein Involved in Elastic Fiber Formation and Tissue Development
Gene Information Card
| Symbol | FBLN2 |
|---|---|
| Full Name | fibulin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p25.1 |
| NCBI Gene ID | 2199 ncbi.nlm.nih.gov/gene/2199 |
| Ensembl ID | ENSG00000163520 |
| UniProt ID | P98095 |
| OMIM ID | 135821 |
| HGNC ID | 3601 |
| Aliases | FBLN2, Fibulin-2 |
Description
FBLN2 encodes fibulin 2, an extracellular matrix glycoprotein that belongs to the fibulin family. It is characterized by tandem calcium-binding EGF-like domains and a C-terminal fibulin-type module. Fibulin 2 is involved in the formation of elastic fibers, cell adhesion, and tissue development. It interacts with various extracellular matrix components including fibronectin, laminin, and tropoelastin.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cutis laxa, autosomal recessive, type IC | Defective elastic fiber assembly due to FBLN2 mutations | ClinVar, OMIM |
| Age-related macular degeneration | Altered extracellular matrix remodeling in Bruch's membrane | NCBI Gene, PubMed |
| Coronary artery disease | Potential role in vascular elastic fiber integrity | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 10.3 | Medium |
| Skin | 8.7 | Medium |
| Artery | 15.2 | High |
| Uterus | 9.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 14.0 | High expression |
| Fibroblast (skin) | 11.5 | High expression |
| Aortic smooth muscle cells | 13.8 | High expression |
| HEK 293 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with cutis laxa |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Premature termination; loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | Rare | Potential structural disruption |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated protein and loss of elastic fiber binding.
Gain of Function (GOF)
No evidence of gain-of-function mutations in FBLN2.
Dominant Negative (DN)
Not reported for FBLN2.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • calcium ion binding |
| • protein binding | • extracellular matrix organization |
| • cell adhesion | • elastic fiber assembly |
Pathways
• Elastic fiber formation
• Extracellular matrix organization
• Integrin signaling pathway
Protein Summary
Fibulin 2 is a 1,184-amino-acid extracellular matrix glycoprotein with a molecular weight of approximately 130 kDa. It contains an N-terminal signal peptide, a series of calcium-binding EGF-like domains, and a C-terminal fibulin-type domain. The protein is secreted and localizes to elastic fibers, basement membranes, and microfibrils. It mediates cell-matrix interactions and contributes to tissue elasticity and integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBLN2 Knockout HEK293 Cell Line | EDJ-KQ4578 | Human | 2199 | Details Get a Quote |
| FBLN2 Knockout A-549 Cell Line | EDJ-KQ27238 | Human | 2199 | Details Get a Quote |
| FBLN2 Knockout HeLa Cell Line | EDJ-KQ27239 | Human | 2199 | Details Get a Quote |
| FBLN2 Knockout HCT 116 Cell Line | EDJ-KQ70165 | Human | 2199 | Details Get a Quote |
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