| Gene Symbol |
FBN2
|
| Entrez Gene |
2201
|
| Alt Symbol |
CCA, DA9, EOMD
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
fibrillin 2
|
| Other Description |
fibrillin 5|fibrillin-2
|
| Swissprots |
Q59ES6 B4DU01 P35556
|
| Accessions |
CCQ43160 CCQ43161 EAW62388 EAW62389 EAW62390 EAW62391 P35556 AB209735 BAD92972 AF193046 AAG22474 AK300440 BAG62163 BC040623 BF368029 BG009811 BX343658 CD243435 CN300888 CN300893 CN300894 CN300904 CN481490 GU014836 ACX32323 U03272 AAA18950 X62009 CAB56757 NM_001999 NP_001990
|
| Function |
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). {ECO:0000250|UniProtKB:Q61555}.
|
| Subcellular Location |
Secreted, extracellular space, extracellular matrix.
|
| Tissue Specificity |
Expressed in fetal eye (18 weeks)in the retinal pigment epithelium (RPE), the choroid, Bruch's membrane and in the sclera. Not expressed in the neural retina. {ECO:0000269|PubMed:24899048}.
|