FBN2

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]

Full Name

fibrillin 2

Research Area

Fibrillin-2:
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.

Placensin:
Hormone secreted by trophoblasts that promotes trophoblast invasiveness (PubMed:32329225).

Has glucogenic activity: is able to increase plasma glucose levels (By similarity).

Biological Process

Anatomical structure morphogenesis Source: GO_Central
Bone trabecula formation Source: BHF-UCL
Camera-type eye development Source: UniProtKB
Embryonic eye morphogenesis Source: UniProtKB
Embryonic limb morphogenesis Source: Ensembl
Positive regulation of bone mineralization Source: BHF-UCL
Positive regulation of osteoblast differentiation Source: BHF-UCL
Sequestering of TGFbeta in extracellular matrix Source: BHF-UCL

Cellular Location

Secreted. Fibrillin-2 and Placensin chains are still linked together during the secretion from cells, but are subsequently separated by furin.
Fibrillin-2: Extracellular matrix
Placensin: Secreted. Secreted by placental cells.

Involvement in disease

Contractural arachnodactyly, congenital (CCA):
An autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears.
Macular degeneration, early-onset (EOMD):
An ocular disorder characterized by macular changes resulting in progressive loss of visual acuity.

PTM

Placensin: N-glycosylated.