RELN

RELN 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]

Details

Type
Retained Intron
Official Symbol
RELN
Official Name
reelin [Source:HGNC Symbol;Acc:HGNC:9957]
Ensembl ID
ENSG00000189056
Bio databases IDs NCBI: 5649 Ensembl: ENSG00000189056
Aliases reelin
Synonyms
ETL7,LIS2,PRO1598,Reelen,reeler,REELIN,RL
Species
Human, Homo sapiens

Protein Domains

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.

Top Findings

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

CELLULAR COMPONENT

Where in the cell the gene product is active
  • dendrite
  • extracellular space
  • cytoplasm
  • extracellular matrix
  • extracellular region
  • neuron projection
  • plasma membrane

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • metal ion binding
  • serine-type peptidase activity
  • lipoprotein particle receptor binding
  • receptor agonist activity
  • very-low-density lipoprotein particle receptor binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.