fibrillin-2 (FBN2)

Function

• fibrillins are structural components of 10-12 nm extracellular Ca+2-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 & calibrating TGF-beta & BMP levels, respectively (putative)

Structure

• belongs to the fibrillin family
• contains 47 EGF-like domains
• contains 9 TB (TGF-beta binding) domains

Compartment

• secreted, extracellular space, extracellular matrix

Alternative splicing

named isoforms=2

Pathology

• defects in FBN2 are the cause of distal arthrogryposis type 9

More general terms

• fibrillin

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=2201
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:2201
• OMIM: https://mirror.omim.org/entry/121050
• OMIM: https://mirror.omim.org/entry/612570
• UniProt: http://www.uniprot.org/uniprot/P35556.html