FBN2
Function
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).
Involvement in disease
Contractural arachnodactyly, congenital
CCA
An autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears.
None
The disease is caused by variants affecting the gene represented in this entry.
Macular degeneration, early-onset
EOMD
An ocular disorder characterized by macular changes resulting in progressive loss of visual acuity.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Placensin
N-glycosylated.
O-glycosylated on serine residues by POGLUT2 and POGLUT3.
Sequence Similarities
Belongs to the fibrillin family.
Tissue Specificity
Almost exclusively expressed in placenta (PubMed:32329225). Expressed at much lower level in other tissues (PubMed:32329225). Expressed in fetal eye (18 weeks)in the retinal pigment epithelium (RPE), the choroid, Bruch's membrane and in the sclera (PubMed:24899048). Not expressed in the neural retina (PubMed:24899048).
Placensin
Present at high level in cytotrophoblasts as compared with syncytiotrophoblasts at 8-9 weeks of pregnancy (at protein level) (PubMed:32329225). Levels in the serum increase during pregnancy (at protein level) (PubMed:32329225).
Cellular localization
- Secreted
- Fibrillin-2 and Placensin chains are still linked together during the secretion from cells, but are subsequently separated by furin.
- Fibrillin-2
- Secreted
- Extracellular space
- Extracellular matrix
- Placensin
- Secreted
- Secreted by placental cells.
Alternative names
Fibrillin-2, FBN2