FBN2
Summary: The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| fibrillin 2 | MIM:612570 | Ensembl:ENSG00000138829 | HGNC:HGNC:3604 | PA28017 | 5q23.3 |
Gene Categories:
DRUGGABLE GENOMEGO terms in FBN2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0001527 | microfibril |
| CC | TAS | GO:0001527 | microfibril |
| CC | TAS | GO:0005576 | extracellular region |
| CC | HDA | GO:0031012 | extracellular matrix |
| CC | IBA | GO:0031012 | extracellular matrix |
| BP | IBA | GO:0009653 | anatomical structure morphogenesis |
| BP | TAS | GO:0030198 | extracellular matrix organization |
| BP | IEA | GO:0030326 | embryonic limb morphogenesis |
| BP | ISS | GO:0030501 | positive regulation of bone mineralization |
| BP | ISS | GO:0035583 | sequestering of TGFbeta in extracellular matrix |
| BP | IEP | GO:0043010 | camera-type eye development |
| BP | ISS | GO:0045669 | positive regulation of osteoblast differentiation |
| BP | IEP | GO:0048048 | embryonic eye morphogenesis |
| BP | ISS | GO:0060346 | bone trabecula formation |
| MF | IBA | GO:0005201 | extracellular matrix structural constituent |
| MF | IEA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IC | GO:0030023 | extracellular matrix constituent conferring elasticity |
Gene expression in normal tissue: FBN2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FBN2
| 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-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD148 | Pifithrin-mu | 3 |
| iGMDRD512 | nutlin 3 | 2 |
| iGMDRD405 | PIK-75 | 2 |
| iGMDRD85 | Ursolic acid | 1 |
| iGMDRD351 | GW843682X | 7 |
| iGMDRD314 | Tanespimycin | 1 |
| iGMDRD132 | (-)-gallocatechin-3-O-gallate | 2 |
| iGMDRD945 | ML214 | 3 |
| iGMDRD154 | NSC23766 | 3 |
| iGMDRD883 | CIL55A | 2 |
| iGMDRD158 | NSC141540 | 3 |
| iGMDRD103 | SN-38 | 2 |
| iGMDRD705 | Nakiterpiosin | 2 |
| iGMDRD105 | Triptolide | 1 |
| iGMDRD289 | Parthenolide | 6 |
| iGMDRD267 | Oligomycin A | 4 |
| iGMDRD872 | BRD7137 | 2 |
| iGMDRD871 | BRD6368 | 2 |
| iGMDRD286 | Nsc 632839 | 2 |
| iGMDRD367 | Ro 28-1675 | 6 |
| iGMDRD329 | Merck60 | 4 |
| iGMDRD263 | AACOCF3 | 1 |
| iGMDRD246 | NPC26 | 3 |
| iGMDRD300 | Tozasertib | 7 |
| iGMDRD886 | Compound 1541A | 2 |
| iGMDRD505 | Pevonedistat | 2 |
| iGMDRD42 | Vorinostat | 2 |
| iGMDRD151 | CHM-1 | 2 |
| iGMDRD1008 | SR-II-138A | 2 |
| iGMDRD420 | Leucascandrolide A | 7 |
| iGMDRD144 | NSC95397 | 2 |
| iGMDRD670 | ML 210 | 4 |
| iGMDRD781 | Sirolimus | 1 |
| iGMDRD494 | Neopeltolide | 3 |
| iGMDRD483 | SCH-529074 | 3 |
| iGMDRD61 | Kinetin riboside | 5 |
| iGMDRD152 | 179324-69-7 | 1 |
| iGMDRD634 | SCHEMBL2608041 | 5 |
| iGMDRD474 | Avrainvillamide | 4 |
| iGMDRD260 | FQI-2 | 2 |
| iGMDRD782 | DC-45-A2 | 4 |
| iGMDRD171 | Pemetrexed | 1 |
| iGMDRD187 | BRD9876 | 2 |
| iGMDRD52 | Rotenone | 2 |
| iGMDRD441 | TW 37 | 5 |
| iGMDRD399 | Selumetinib | 1 |
| iGMDRD100 | Zebularine | 2 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD690 | PRIMA-1MET | 2 |
| iGMDRD444 | Tivantinib | 2 |
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in FBN2

