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 Phospholipase-C Pathway 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 NPNT.
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).