Summary of RELN
The RELN gene encodes a protein called reelin. It triggers neurons to migrate to their proper locations and help regulate brain plasticity. Mutations of this gene are associated with higher risk for schizophrenia and bipolar disorder (R).
The Function of RELN
Extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex and cerebellum. Regulates microtubule function in neurons and neuronal migration. Affects migration of sympathetic preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic activity is important for the modulation of cell adhesion. Binding to the extracellular domains of lipoprotein receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation.
Protein names
Recommended name:
Reelin- RS1008126 (RELN) ??
- RS17157903 (RELN) ??
- RS2073559 (RELN) ??
- RS2229864 (RELN) ??
- RS362719 (RELN) ??
- RS3914132 (RELN) ??
- RS4298437 (RELN) ??
- RS6951651 (RELN) ??
- RS7341475 (RELN) ??
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Top Gene-Substance Interactions
RELN Interacts with These Diseases
Disease | Score |
Substances That Increase RELN
Substances | Interaction | Organism | Category |
Substances That Decrease RELN
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Advanced Summary
lissencephaly with cerebellar hypoplasia At least six mutations in the RELN gene have been found to cause lissencephaly with cerebellar hypoplasia (LCH). This condition affects brain development, resulting in the brain having a smooth appearance (lissencephaly) instead of its normal folds and grooves. In addition, the brain region involved in coordinating movements is unusually small and underdeveloped (cerebellar hypoplasia). The RELN gene mutations that cause LCH lead to a complete lack of reelin. As a result, the signaling pathway that triggers neuronal migration is not activated. Without reelin, neurons are disorganized, the normal folds and grooves of the brain do not form, and brain structures do not develop properly. This impairment of brain development leads to intellectual disability, delayed overall development, movement problems, and other signs and symptoms of LCH. other disorders Studies have shown certain variations (polymorphisms) in the RELN gene to be associated with an increased risk of psychiatric disorders such as schizophrenia and bipolar disease. Women with these polymorphisms are at particular risk of developing bipolar disease. In addition, certain genetic changes that result in a decrease in production of reelin (but not a complete absence) may be a risk factor for autism spectrum disorders, which affect communication and social interaction. However, other studies have not supported these findings. Many genetic and environmental factors are believed to contribute to these complex conditions.
The RELN gene provides instructions for making a protein called reelin. This protein is produced in the brain both before and after birth. Reelin is released by certain brain cells; then it attaches (binds) to specific receptor proteins. In the developing brain, this binding turns on (activates) a signaling pathway that triggers nerve cells (neurons) to migrate to their proper locations. After birth, reelin likely plays a role in many brain processes, including the extension of axons and dendrites, which are specialized outgrowths from nerve cells that are essential for the transmission of nerve impulses. Reelin may also regulate synaptic plasticity, which is the ability of connections between neurons (synapses) to change and adapt over time in response to experience. Additionally, reelin controls the release of chemicals that relay signals in the nervous system (neurotransmitters).
Conditions with Increased Gene Activity
Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Conditions with Decreased Gene Activity
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Abundantly produced during brain ontogenesis by the Cajal-Retzius cells and other pioneer neurons located in the telencephalic marginal zone and by granule cells of the external granular layer of the cerebellum. In adult brain, preferentially expressed in GABAergic interneurons of prefrontal cortices, temporal cortex, hippocampus and glutamatergic granule cells of cerebellum. Expression is reduced to about 50% in patients with schizophrenia. Also expressed in fetal and adult liver.
Developmental stage:
Expressed in fetal and postnatal brain and liver. Expression in postnatal human brain is high in the cerebellum.
Molecular Function:
- Lipoprotein Particle Receptor Binding
- Metal Ion Binding
- Protein Serine/Threonine/Tyrosine Kinase Activity
- Serine-Type Peptidase Activity
- Very-Low-Density Lipoprotein Particle Receptor Binding
Biological Processes:
- Associative Learning
- Axon Guidance
- Brain Development
- Cell Adhesion
- Cell Morphogenesis Involved In Differentiation
- Central Nervous System Development
- Cerebral Cortex Tangential Migration
- Dendrite Development
- Glial Cell Differentiation
- Hippocampus Development
- Lateral Motor Column Neuron Migration
- Layer Formation In Cerebral Cortex
- Long-Term Memory
- Long-Term Synaptic Potentiation
- Modulation Of Synaptic Transmission
- Neuron Migration
- Nmda Glutamate Receptor Clustering
- Peptidyl-Tyrosine Phosphorylation
- Positive Regulation Of Alpha-Amino-3-Hydroxy-5-Methyl-4-Isoxazole Propionate Selective Glutamate Receptor Activity
- Positive Regulation Of Creb Transcription Factor Activity
- Positive Regulation Of Dendritic Spine Morphogenesis
- Positive Regulation Of Excitatory Postsynaptic Potential
- Positive Regulation Of Lateral Motor Column Neuron Migration
- Positive Regulation Of Long-Term Synaptic Potentiation
- Positive Regulation Of Neuron Projection Development
- Positive Regulation Of Peptidyl-Tyrosine Phosphorylation
- Positive Regulation Of Phosphatidylinositol 3-Kinase Signaling
- Positive Regulation Of Protein Kinase Activity
- Positive Regulation Of Protein Tyrosine Kinase Activity
- Positive Regulation Of Small Gtpase Mediated Signal Transduction
- Positive Regulation Of Synapse Maturation
- Positive Regulation Of Synaptic Transmission, Glutamatergic
- Positive Regulation Of Tor Signaling
- Postsynaptic Density Protein 95 Clustering
- Protein Localization To Synapse
- Receptor Localization To Synapse
- Reelin-Mediated Signaling Pathway
- Regulation Of Behavior
- Regulation Of N-Methyl-D-Aspartate Selective Glutamate Receptor Activity
- Response To Pain
- Spinal Cord Patterning
- Ventral Spinal Cord Development