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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namefibrillin 3 OMIM IDMIM:608529 Ensembl IDEnsembl:ENSG00000142449 HGNC IDHGNC:HGNC:18794 PHARMGKB IDPA38681 Map Location19p13.2 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in FBN3
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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 |
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Gene expression in normal tissue: FBN3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FBN3
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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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FBN3
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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