FBLN5
Summary: The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namefibulin 5 OMIM IDMIM:604580 Ensembl IDEnsembl:ENSG00000140092 HGNC IDHGNC:HGNC:3602 PHARMGKB IDPA28015 Map Location14q32.12 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in FBLN5
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | ISS | GO:0005178 | integrin binding |
| MF | IEA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008022 | protein C-terminus binding |
| MF | IDA | GO:0042803 | protein homodimerization activity |
| BP | IEA | GO:0001558 | regulation of cell growth |
Gene expression in normal tissue: FBLN5
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FBLN5
Database | Pathway ID | Pathway Des. |
|---|---|---|
| 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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FBLN5
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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