Homo sapiens Gene: RELN
Summary
InnateDB Gene IDBG-34522.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol RELN
Gene Name reelin
Synonyms LIS2; PRO1598; RL;
Species Homo sapiens
Ensembl Gene ENSG00000189056
Encoded Proteins
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:103471784-103989516
Strand Reverse strand
Band q22.1
Transcripts
ENST00000343529 ENSP00000345694
ENST00000428762 ENSP00000392423
ENST00000424685 ENSP00000388446
ENST00000429186 ENSP00000404818
ENST00000473945
ENST00000478148
ENST00000473457
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 9 [view]
Protein-Protein 7 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0004712 protein serine/threonine/tyrosine kinase activity
GO:0005515 protein binding
GO:0008236 serine-type peptidase activity
GO:0046872 metal ion binding
GO:0070325 lipoprotein particle receptor binding
GO:0070326 very-low-density lipoprotein particle receptor binding
Biological Process
GO:0000904 cell morphogenesis involved in differentiation
GO:0001764 neuron migration
GO:0006508 proteolysis
GO:0007155 cell adhesion
GO:0007411 axon guidance
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0007616 long-term memory
GO:0008306 associative learning
GO:0010001 glial cell differentiation
GO:0010468 regulation of gene expression
GO:0010976 positive regulation of neuron projection development
GO:0014068 positive regulation of phosphatidylinositol 3-kinase signaling
GO:0016358 dendrite development
GO:0016477 cell migration
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0021511 spinal cord patterning
GO:0021517 ventral spinal cord development
GO:0021766 hippocampus development
GO:0021800 cerebral cortex tangential migration
GO:0021819 layer formation in cerebral cortex
GO:0021987 cerebral cortex development
GO:0030900 forebrain development
GO:0032008 positive regulation of TOR signaling
GO:0032793 positive regulation of CREB transcription factor activity
GO:0035418 protein localization to synapse
GO:0038026 reelin-mediated signaling pathway
GO:0045860 positive regulation of protein kinase activity
GO:0048265 response to pain
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0050795 regulation of behavior
GO:0050804 regulation of synaptic transmission
GO:0051057 positive regulation of small GTPase mediated signal transduction
GO:0051968 positive regulation of synaptic transmission, glutamatergic
GO:0061003 positive regulation of dendritic spine morphogenesis
GO:0061098 positive regulation of protein tyrosine kinase activity
GO:0090129 positive regulation of synapse maturation
GO:0097114 N-methyl-D-aspartate receptor clustering
GO:0097119 postsynaptic density protein 95 clustering
GO:0097120 receptor localization to synapse
GO:0097477 lateral motor column neuron migration
GO:1900273 positive regulation of long-term synaptic potentiation
GO:1902078 positive regulation of lateral motor column neuron migration
GO:2000310 regulation of N-methyl-D-aspartate selective glutamate receptor activity
GO:2000463 positive regulation of excitatory postsynaptic membrane potential
GO:2000969 positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity
Cellular Component
GO:0005578 proteinaceous extracellular matrix
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0030425 dendrite
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Focal adhesion pathway
ECM-receptor interaction pathway
INOH
PID BIOCARTA
Lissencephaly gene (lis1) in neuronal migration and development [Biocarta view]
PID NCI
Reelin signaling pathway
Lissencephaly gene (LIS1) in neuronal migration and development
Cross-References
SwissProt P78509
TrEMBL J3KQ66 Q75MM8
UniProt Splice Variant
Entrez Gene 5649
UniGene Hs.606291 Hs.655654
RefSeq NM_005045 NM_173054
HUGO HGNC:9957
OMIM 600514
CCDS CCDS34722 CCDS47680
HPRD
IMGT
EMBL AC000121 AC002067 AC005064 AC005101 AC006316 AC006981 AC010126 AC073208 AC079918 CH236947 U79716
GenPept AAB46357 AAC51105 AAD29127 AAM49151 AAP22330 AAP22355 AAS02019 EAL24410 EAL24411
RNA Seq Atlas 5649