Aliases for FBN2 Gene
External Ids for FBN2 Gene
Previous HGNC Symbols for FBN2 Gene
Previous GeneCards Identifiers for FBN2 Gene
The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
GeneCards Summary for FBN2 Gene
FBN2 (Fibrillin 2) is a Protein Coding gene. Diseases associated with FBN2 include contractural arachnodactyly, congenital and macular degeneration, early-onset. Among its related pathways are Degradation of the extracellular matrix and ERK Signaling. GO annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is LTBP3.
UniProtKB/Swiss-Prot for FBN2 Gene
Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively (By similarity).