Entity Details

Primary name RELN
Entity type gene
Source Source Link

Details

PrimaryID5649
RefseqGeneNG_011877
SymbolRELN
Namereelin
Chromosome7
Location7q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-27
ModificationDate2021-06-13

Ontological Relatives

UniProt IDsRELN_HUMAN

GO terms

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GOName
GO:0000904 cell morphogenesis involved in differentiation
GO:0001764 neuron migration
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0007155 cell adhesion
GO:0007411 axon guidance
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0008236 serine-type peptidase activity
GO:0010001 glial cell differentiation
GO:0010976 positive regulation of neuron projection development
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0021511 spinal cord patterning
GO:0021766 hippocampus development
GO:0021800 cerebral cortex tangential migration
GO:0030425 dendrite
GO:0032793 positive regulation of CREB transcription factor activity
GO:0038026 reelin-mediated signaling pathway
GO:0043005 neuron projection
GO:0045860 positive regulation of protein kinase activity
GO:0046872 metal ion binding
GO:0048265 response to pain
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0050795 regulation of behavior
GO:0050804 modulation of chemical 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:0070325 lipoprotein particle receptor binding
GO:0070326 very-low-density lipoprotein particle receptor binding
GO:0090129 positive regulation of synapse maturation
GO:1900273 positive regulation of long-term synaptic potentiation
GO:2000310 regulation of NMDA receptor activity
GO:2000463 positive regulation of excitatory postsynaptic potential
GO:2000969 positive regulation of AMPA receptor activity

Diseases

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Disease IDSourceNameDescription
257320 OMIMLissencephaly 2 (LIS2)A classic type lissencephaly associated with ataxia, mental retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem. The disease is caused by variants affecting the gene represented in this entry.
616436 OMIMEpilepsy, familial temporal lobe, 7 (ETL7)A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. The disease is caused by variants affecting the gene represented in this entry.