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 |
|---|---|---|---|---|---|
| reelin | MIM:600514 | Ensembl:ENSG00000189056 | HGNC:HGNC:9957 | PA34323 | 7q22.1 |
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 |
| CC | ISS | GO:0005737 | cytoplasm |
| CC | IEA | GO:0005886 | plasma membrane |
| CC | ISS | GO:0030425 | dendrite |
| BP | ISS | GO:0000904 | cell morphogenesis involved in differentiation |
| BP | ISS | GO:0001764 | neuron migration |
| BP | IEA | GO:0006508 | proteolysis |
| BP | IEA | GO:0007155 | cell adhesion |
| BP | ISS | GO:0007411 | axon guidance |
| BP | TAS | GO:0007411 | axon guidance |
| BP | ISS | GO:0007417 | central nervous system development |
| BP | ISS | GO:0007420 | brain development |
| BP | IEA | GO:0007616 | long-term memory |
| BP | IEA | GO:0008306 | associative learning |
| BP | ISS | GO:0010001 | glial cell differentiation |
| BP | ISS | GO:0010976 | positive regulation of neuron projection development |
| BP | IEA | GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling |
| BP | IEA | GO:0016358 | dendrite development |
| BP | ISS | GO:0018108 | peptidyl-tyrosine phosphorylation |
| BP | ISS | GO:0021511 | spinal cord patterning |
| BP | IEA | GO:0021517 | ventral spinal cord development |
| BP | ISS | GO:0021766 | hippocampus development |
| BP | ISS | GO:0021800 | cerebral cortex tangential migration |
| BP | IEA | GO:0021819 | layer formation in cerebral cortex |
| BP | IEA | GO:0032008 | positive regulation of TOR signaling |
| BP | ISS | GO:0032793 | positive regulation of CREB transcription factor activity |
| BP | IEA | GO:0035418 | protein localization to synapse |
| BP | ISS | GO:0038026 | reelin-mediated signaling pathway |
| BP | ISS | GO:0045860 | positive regulation of protein kinase activity |
| BP | ISS | GO:0048265 | response to pain |
| BP | ISS | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation |
| BP | ISS | GO:0050795 | regulation of behavior |
| BP | ISS | GO:0050804 | modulation of chemical synaptic transmission |
| BP | ISS | GO:0051057 | positive regulation of small GTPase mediated signal transduction |
| BP | ISS | GO:0051968 | positive regulation of synaptic transmission, glutamatergic |
| BP | IEA | GO:0060291 | long-term synaptic potentiation |
| BP | ISS | GO:0061003 | positive regulation of dendritic spine morphogenesis |
| BP | ISS | GO:0061098 | positive regulation of protein tyrosine kinase activity |
| BP | ISS | GO:0090129 | positive regulation of synapse maturation |
| BP | IEA | GO:0097114 | NMDA glutamate receptor clustering |
| BP | IEA | GO:0097119 | postsynaptic density protein 95 clustering |
| BP | IEA | GO:0097120 | receptor localization to synapse |
| BP | IEA | GO:0097477 | lateral motor column neuron migration |
| BP | ISS | GO:1900273 | positive regulation of long-term synaptic potentiation |
| BP | IEA | GO:1902078 | positive regulation of lateral motor column neuron migration |
| BP | ISS | GO:2000310 | regulation of NMDA receptor activity |
| BP | ISS | GO:2000463 | positive regulation of excitatory postsynaptic potential |
| BP | ISS | GO:2000969 | positive regulation of AMPA receptor activity |
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) |
| kegg | hsa04510 | Focal adhesion - Homo sapiens (human) |
| kegg | hsa04512 | ECM-receptor interaction - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| biocarta | lis1pathway | lissencephaly gene (lis1) in neuronal migration and development |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-8866376 | Reelin signalling pathway |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RELN
CLASSFICATION
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