FBN3 Gene - Fibrillin 3
Comprehensive genomic and proteomic analysis of FBN3, a member of the fibrillin family involved in extracellular matrix structure and connective tissue disorders.
Gene Information Card
| Symbol | FBN3 |
|---|---|
| Full Name | fibrillin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 84467 ncbi.nlm.nih.gov/gene/84467 |
| Ensembl ID | ENSG00000142449 |
| UniProt ID | Q9N3T9 |
| OMIM ID | 608529 |
| HGNC ID | 3603 |
| Aliases | FBN3_HUMAN, MFLS, FBN3v1 |
Description
FBN3 (fibrillin 3) encodes a member of the fibrillin family of extracellular matrix glycoproteins. Fibrillins are major components of microfibrils, which provide structural support in connective tissues and regulate TGF-beta signaling. FBN3 is expressed during development and in adult tissues, and its mutations are associated with connective tissue disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Marfan syndrome-like phenotype | Altered microfibril assembly and TGF-beta sequestration due to FBN3 mutations | OMIM #608529; limited clinical reports |
| Weill-Marchesani syndrome (possible) | Disrupted extracellular matrix integrity | Inferred from fibrillin family homology; not confirmed in large cohorts |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 2.1 | Low |
| Heart | 1.5 | Low |
| Lung | 3.2 | Medium |
| Placenta | 4.8 | Medium |
| Skin | 2.9 | Low |
| Testis | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Fibroblasts (skin) | 3.5 | Primary cells; moderate expression |
| Aortic smooth muscle cells | 2.0 | Low expression |
| Chondrocytes | 4.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | Rare | Potential disruption of calcium-binding EGF-like domain |
| c.2567_2568del (p.Val856Alafs*12) | Frameshift | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations predicted to cause haploinsufficiency or truncated non-functional fibrillin-3.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported for FBN3.
Dominant Negative (DN)
Missense mutations in EGF-like domains may exert dominant-negative effects by disrupting microfibril assembly.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent (GO:0005201) | • proteinaceous extracellular matrix (GO:0005578) |
| • extracellular matrix constituent conferring elasticity (GO:0030023) | • extracellular space (GO:0005615) |
| • cell adhesion (GO:0007155) |
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Elastic fibre formation (Reactome: R-HSA-1566948)
• TGF-beta signaling pathway (KEGG: hsa04350)
Protein Summary
Fibrillin-3 is a 2809-amino acid glycoprotein that forms microfibrils in the extracellular matrix. It contains multiple calcium-binding EGF-like domains and a TGF-beta binding protein-like domain. Fibrillin-3 is involved in elastic fiber assembly and regulation of TGF-beta bioavailability. Its expression is highest in placenta and lung, and mutations are linked to connective tissue disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FBN3 Knockout HEK293 Cell Line | EDJ-KQ10098 | Human | 84467 | Details Get a Quote |
| FBN3 Knockout HCT 116 Cell Line | EDJ-KQ37178 | Human | 84467 | Details Get a Quote |
| FBN3 Knockout HeLa Cell Line | EDJ-KQ57601 | Human | 84467 | Details Get a Quote |
| FBN3 Knockout A-549 Cell Line | EDJ-KQ66098 | Human | 84467 | Details Get a Quote |
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