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