FLNA
Summary: The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namefilamin A OMIM IDMIM:300017 Ensembl IDEnsembl:ENSG00000196924 HGNC IDHGNC:HGNC:3754 PHARMGKB IDPA28172 Map LocationXq28 | |||||
GO terms in FLNA
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0001664 | G-protein coupled receptor binding |
| MF | HDA | GO:0003723 | RNA binding |
| MF | IDA | GO:0005515 | protein binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008134 | transcription factor binding |
| MF | IDA | GO:0015459 | potassium channel regulator activity |
Gene expression in normal tissue: FLNA
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FLNA
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP138 | Androgen receptor signaling pathway |
| wikipathways | WP2037 | Prolactin Signaling Pathway |
| wikipathways | WP2593 | JAK-STAT |
| wikipathways | WP306 | Focal Adhesion |
| wikipathways | WP3668 | Hypothesized Pathways in Pathogenesis of Cardiovascular Disease |
| wikipathways | WP382 | MAPK Signaling Pathway |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FLNA
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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