RELN
Summary: This gene encodes a large secreted extracellular matrix protein thought to control cell-cell interactions critical for cell positioning and neuronal migration during brain development. This protein may be involved in schizophrenia, autism, bipolar disorder, major depression and in migration defects associated with temporal lobe epilepsy. Mutations of this gene are associated with autosomal recessive lissencephaly with cerebellar hypoplasia. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described but their full length nature has not been determined. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Namereelin OMIM IDMIM:600514 Ensembl IDEnsembl:ENSG00000189056 HGNC IDHGNC:HGNC:9957 PHARMGKB IDPA34323 Map Location7q22.1 | |||||
GO terms in RELN
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0008236 | serine-type peptidase activity |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | ISS | GO:0070325 | lipoprotein particle receptor binding |
| MF | ISS | GO:0070326 | very-low-density lipoprotein particle receptor binding |
| CC | TAS | GO:0005576 | extracellular region |
| CC | ISS | GO:0005615 | extracellular space |
Gene expression in normal tissue: RELN
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RELN
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP306 | Focal Adhesion |
| wikipathways | WP3932 | Focal Adhesion-PI3K-Akt-mTOR-signaling pathway |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
| pid | lis1pathway | Lissencephaly gene (LIS1) in neuronal migration and development |
| pid | reelinpathway | Reelin signaling pathway |
| kegg | hsa04151 | PI3K-Akt signaling pathway - Homo sapiens (human) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD399 | Selumetinib | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RELN
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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