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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namefibrillin 2 OMIM IDMIM:612570 Ensembl IDEnsembl:ENSG00000138829 HGNC IDHGNC:HGNC:3604 PHARMGKB IDPA28017 Map Location5q23.3 | |||||
Gene Categories:
DRUGGABLE GENOMEGO terms in FBN2
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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 |
Gene expression in normal tissue: FBN2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FBN2
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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 FBN2
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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