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]
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
Tandem repeat subunit of reelin and related proteins
Reeler domain
peptidase
Domains similar to the eukaryotic reeler domain and bacterial cohesins
central domain
protein binding
receptor binding
Reelin repeat
EGF_CA
serine-type peptidase
homopolymerization domain
receptor agonist activity
Tenascin EGF domain
Pathways
Biological processes and signaling networks where the RELN gene plays a role, providing insight into its function and relevance in health or disease.
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
ITGA3
LRP8
APP
cannabinoid receptor
ITGB1
RELN
TRIM25
VLDLR
lipoprotein receptor
DNMT1
disease
metabolic syndrome X
non-insulin-dependent diabetes mellitus
metastasis
hepatocellular carcinoma
liver cancer
epithelial cancer
lissencephaly Norman-Roberts type
rheumatoid arthritis
venous thromboembolism
glioblastoma
regulated by
progesterone
acetylcholine
decitabine
APP
APOE
thyroid hormone
levodopa
kainic acid
L-triiodothyronine
butyric acid
regulates
Ca2+
APP
AKT1
AKT
FN1
ABCA1
SUMO1
Collagen type IV
DAB1
GSK3B
role in cell
quantity
expression in
formation
growth
phosphorylation in
differentiation
binding in
accumulation
migration
branching
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
Extracellular Space
membrane fraction
Cytoplasm
cell surface
cell borders
perinuclear region
Nucleus
synapse
extracellular matrix
perikaryon
axons
dendrites
plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the RELN gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
peptidyl-tyrosine phosphorylation
layer formation in cerebral cortex
regulation of synaptic activity
positive regulation of long-term synaptic potentiation
ventral spinal cord development
spinal cord patterning
axon guidance
cell adhesion
regulation of neuron differentiation
associative learning
regulation of behavior
response to pain
neuron migration
locomotory behavior
regulation of N-methyl-D-aspartate selective glutamate receptor activity
postsynaptic density assembly
positive regulation of neuron projection development
long-term synaptic potentiation
positive regulation of synaptic transmission, glutamatergic
protein localization to synapse
regulation of neuron migration
positive regulation of TOR signaling cascade
positive regulation of peptidyl-tyrosine phosphorylation
dendrite development
reelin-mediated signaling pathway
positive regulation of synapse maturation
positive regulation of dendritic spine morphogenesis
cell morphogenesis
hippocampus development
cerebral cortex tangential migration
brain development
receptor localization to synapse
long-term memory
positive regulation of small GTPase mediated signal transduction
central nervous system development
positive regulation of protein kinase activity
N-methyl-D-aspartate receptor clustering
positive regulation of protein phosphorylation
proteolysis
regulation of gene expression
postsynaptic density protein 95 clustering
regulation of synaptic transmission
positive regulation of excitatory postsynaptic membrane potential
glial cell differentiation
positive regulation of protein kinase B signaling cascade
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