FBN3
Summary: This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome. [provided by RefSeq, Mar 2016].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
fibrillin 3 | MIM:608529 | Ensembl:ENSG00000142449 | HGNC:HGNC:18794 | PA38681 | 19p13.2 |
Gene Categories:
DRUGGABLE GENOMEGO terms in FBN3
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IBA | GO:0005201 | extracellular matrix structural constituent |
MF | IEA | GO:0005509 | calcium ion binding |
CC | IBA | GO:0031012 | extracellular matrix |
BP | IBA | GO:0009653 | anatomical structure morphogenesis |
Gene expression in normal tissue: FBN3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FBN3
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
reactome | R-HSA-1474244 | Extracellular matrix organization |
reactome | R-HSA-1474244 | Extracellular matrix organization |
reactome | R-HSA-1566948 | Elastic fibre formation |
reactome | R-HSA-1566948 | Elastic fibre formation |
reactome | R-HSA-2129379 | Molecules associated with elastic fibres |
reactome | R-HSA-2129379 | Molecules associated with elastic fibres |
wikipathways | WP3668 | Hypothesized Pathways in Pathogenesis of Cardiovascular Disease |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FBN3