Format

Send to:

Choose Destination

RELN reelin [ Homo sapiens (human) ]

Gene ID: 5649, updated on 11-Sep-2019

Summary

Official Symbol
RELNprovided by HGNC
Official Full Name
reelinprovided by HGNC
Primary source
HGNC:HGNC:9957
See related
Ensembl:ENSG00000189056 MIM:600514
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
RL; ETL7; LIS2; PRO1598
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]
Expression
Biased expression in liver (RPKM 8.4), adrenal (RPKM 1.9) and 11 other tissues See more
Orthologs

Genomic context

See RELN in Genome Data Viewer
Location:
7q22.1
Exon count:
65
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (103471784..103989658, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (103112231..103629963, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ribosomal protein S29 pseudogene 16 Neighboring gene uncharacterized LOC101927870 Neighboring gene solute carrier family 26 member 5 Neighboring gene proteasome 26S subunit, ATPase 2 Neighboring gene uncharacterized LOC105375435 Neighboring gene RN7SK pseudogene 86 Neighboring gene origin recognition complex subunit 5 Neighboring gene LHFPL tetraspan subfamily member 3 Neighboring gene eukaryotic translation initiation factor 4B pseudogene 6

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.
NHGRI GWA Catalog
Alzheimer disease pathology in cognitively healthy elderly: a genome-wide study.
NHGRI GWA Catalog
Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
NHGRI GWA Catalog
Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women.
NHGRI GWA Catalog
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
NHGRI GWA Catalog

Pathways from BioSystems

  • ECM-receptor interaction, organism-specific biosystem (from KEGG)
    ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • ECM-receptor interaction, conserved biosystem (from KEGG)
    ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
  • Focal Adhesion, organism-specific biosystem (from WikiPathways)
    Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, organism-specific biosystem (from KEGG)
    Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Focal adhesion, conserved biosystem (from KEGG)
    Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
    Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
  • Lissencephaly gene (LIS1) in neuronal migration and development, organism-specific biosystem (from Pathway Interaction Database)
    Lissencephaly gene (LIS1) in neuronal migration and development, organism-specific biosystem
    Lissencephaly gene (LIS1) in neuronal migration and development
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
    PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
    PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
  • Reelin signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    Reelin signaling pathway, organism-specific biosystem
    Reelin signaling pathway
  • Reelin signalling pathway, organism-specific biosystem (from REACTOME)
    Reelin signalling pathway, organism-specific biosystemReelin (RELN) is an extracellular, multifunctional signal glycoprotein that controls not only the positioning of neurons in the developing brain, but also their growth, maturation, and synaptic activ...
  • VLDL interactions, organism-specific biosystem (from REACTOME)
    VLDL interactions, organism-specific biosystemVery-low-density lipoprotein (VLDL) is a lipoprotein made by the liver (Gibbons et al. 2004) and is one of the five major groups of lipoproteins (chylomicrons, VLDL, LDL, IDL and HDL) that enable fat...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipoprotein particle receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipoprotein particle receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
serine-type peptidase activity IEA
Inferred from Electronic Annotation
more info
 
very-low-density lipoprotein particle receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Process Evidence Code Pubs
NMDA glutamate receptor clustering IEA
Inferred from Electronic Annotation
more info
 
associative learning IEA
Inferred from Electronic Annotation
more info
 
axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
brain development ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cell morphogenesis involved in differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
central nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
central nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
cerebral cortex tangential migration ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite development IEA
Inferred from Electronic Annotation
more info
 
glial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
hippocampus development ISS
Inferred from Sequence or Structural Similarity
more info
 
lateral motor column neuron migration IEA
Inferred from Electronic Annotation
more info
 
layer formation in cerebral cortex IEA
Inferred from Electronic Annotation
more info
 
long-term memory IEA
Inferred from Electronic Annotation
more info
 
long-term synaptic potentiation IEA
Inferred from Electronic Annotation
more info
 
modulation of chemical synaptic transmission ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-tyrosine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of AMPA receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of CREB transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of TOR signaling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of dendritic spine morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of excitatory postsynaptic potential ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of lateral motor column neuron migration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of long-term synaptic potentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of neuron projection development ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of peptidyl-tyrosine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of phosphatidylinositol 3-kinase signaling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein tyrosine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of small GTPase mediated signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of synapse maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of synaptic transmission, glutamatergic ISS
Inferred from Sequence or Structural Similarity
more info
 
postsynaptic density protein 95 clustering IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
receptor localization to synapse IEA
Inferred from Electronic Annotation
more info
 
reelin-mediated signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
regulation of NMDA receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
response to pain ISS
Inferred from Sequence or Structural Similarity
more info
 
spinal cord patterning ISS
Inferred from Sequence or Structural Similarity
more info
 
ventral spinal cord development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
dendrite ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space ISS
Inferred from Sequence or Structural Similarity
more info
 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011877.2 RefSeqGene

    Range
    4859..522728
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005045.4NP_005036.2  reelin isoform a precursor

    See identical proteins and their annotated locations for NP_005036.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript, and encodes the longer isoform (a).
    Source sequence(s)
    AC000121, AC002067, AC005064, AC005101, AC006316, AC073208, KF458525
    Consensus CDS
    CCDS47680.1
    UniProtKB/Swiss-Prot
    P78509
    Related
    ENSP00000392423.1, ENST00000428762.6
    Conserved Domains (20) summary
    cd10036
    Location:202351
    Reelin_subrepeat_Nt; Additional N-terminal subrepeat of reelin
    cd10037
    Location:526671
    Reelin_repeat_1_subrepeat_1; N-terminal subrepeat of tandem repeat unit 1 of reelin and related proteins
    cd10038
    Location:8671034
    Reelin_repeat_2_subrepeat_1; N-terminal subrepeat of tandem repeat unit 2 of reelin and related proteins
    cd10039
    Location:12401409
    Reelin_repeat_3_subrepeat_1; N-terminal subrepeat of tandem repeat unit 3 of reelin and related proteins
    cd10040
    Location:16051774
    Reelin_repeat_4_subrepeat_1; N-terminal subrepeat of tandem repeat unit 4 of reelin and related proteins
    cd10041
    Location:19562130
    Reelin_repeat_5_subrepeat_1; N-terminal subrepeat of tandem repeat unit 5 of reelin and related proteins
    cd10042
    Location:23222478
    Reelin_repeat_6_subrepeat_1; N-terminal subrepeat of tandem repeat unit 6 of reelin and related proteins
    cd10043
    Location:26692853
    Reelin_repeat_7_subrepeat_1; N-terminal subrepeat of tandem repeat unit 7 of reelin and related proteins
    cd10044
    Location:30553229
    Reelin_repeat_8_subrepeat_1; N-terminal subrepeat of tandem repeat unit 8 of reelin and related proteins
    cd10045
    Location:708862
    Reelin_repeat_1_subrepeat_2; C-terminal subrepeat of tandem repeat unit 1 of reelin and related proteins
    cd10046
    Location:10651220
    Reelin_repeat_2_subrepeat_2; C-terminal subrepeat of tandem repeat unit 2 of reelin and related proteins
    cd10047
    Location:14471597
    Reelin_repeat_3_subrepeat_2; C-terminal subrepeat of tandem repeat unit 3 of reelin and related proteins
    cd10048
    Location:18001949
    Reelin_repeat_4_subrepeat_2; C-terminal subrepeat of tandem repeat unit 4 of reelin and related proteins
    cd10049
    Location:21652314
    Reelin_repeat_5_subrepeat_2; C-terminal subrepeat of tandem repeat unit 5 of reelin and related proteins
    cd10050
    Location:25142661
    Reelin_repeat_6_subrepeat_2; C-terminal subrepeat of tandem repeat unit 6 of reelin and related proteins
    cd10051
    Location:28893050
    Reelin_repeat_7_subrepeat_2; C-terminal subrepeat of tandem repeat unit 7 of reelin and related proteins
    cd10052
    Location:32663426
    Reelin_repeat_8_subrepeat_2; C-terminal subrepeat of tandem repeat unit 8 of reelin and related proteins
    cl15240
    Location:421556
    Reelin_subrepeat_like; Tandem repeat subunit of reelin and related proteins
    cd08544
    Location:48178
    Reeler; Reeler, the N-terminal domain of reelin, F-spondin, and a variety of other proteins
    pfam07974
    Location:21302159
    EGF_2; EGF-like domain
  2. NM_173054.2NP_774959.1  reelin isoform b precursor

    See identical proteins and their annotated locations for NP_774959.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame, 6 nt microexon in the coding region compared to variant 1, resulting in an isoform (b) that is 2 aa shorter than isoform a.
    Source sequence(s)
    AC000121, AC002067, AC005064, AC005101, AC006316, AC073208, KF458525
    Consensus CDS
    CCDS34722.1
    UniProtKB/Swiss-Prot
    P78509
    Related
    ENSP00000345694.5, ENST00000343529.9
    Conserved Domains (20) summary
    cd10036
    Location:202351
    Reelin_subrepeat_Nt; Additional N-terminal subrepeat of reelin
    cd10037
    Location:526671
    Reelin_repeat_1_subrepeat_1; N-terminal subrepeat of tandem repeat unit 1 of reelin and related proteins
    cd10038
    Location:8671034
    Reelin_repeat_2_subrepeat_1; N-terminal subrepeat of tandem repeat unit 2 of reelin and related proteins
    cd10039
    Location:12401409
    Reelin_repeat_3_subrepeat_1; N-terminal subrepeat of tandem repeat unit 3 of reelin and related proteins
    cd10040
    Location:16051774
    Reelin_repeat_4_subrepeat_1; N-terminal subrepeat of tandem repeat unit 4 of reelin and related proteins
    cd10041
    Location:19562130
    Reelin_repeat_5_subrepeat_1; N-terminal subrepeat of tandem repeat unit 5 of reelin and related proteins
    cd10042
    Location:23222478
    Reelin_repeat_6_subrepeat_1; N-terminal subrepeat of tandem repeat unit 6 of reelin and related proteins
    cd10043
    Location:26692853
    Reelin_repeat_7_subrepeat_1; N-terminal subrepeat of tandem repeat unit 7 of reelin and related proteins
    cd10044
    Location:30553229
    Reelin_repeat_8_subrepeat_1; N-terminal subrepeat of tandem repeat unit 8 of reelin and related proteins
    cd10045
    Location:708862
    Reelin_repeat_1_subrepeat_2; C-terminal subrepeat of tandem repeat unit 1 of reelin and related proteins
    cd10046
    Location:10651220
    Reelin_repeat_2_subrepeat_2; C-terminal subrepeat of tandem repeat unit 2 of reelin and related proteins
    cd10047
    Location:14471597
    Reelin_repeat_3_subrepeat_2; C-terminal subrepeat of tandem repeat unit 3 of reelin and related proteins
    cd10048
    Location:18001949
    Reelin_repeat_4_subrepeat_2; C-terminal subrepeat of tandem repeat unit 4 of reelin and related proteins
    cd10049
    Location:21652314
    Reelin_repeat_5_subrepeat_2; C-terminal subrepeat of tandem repeat unit 5 of reelin and related proteins
    cd10050
    Location:25142661
    Reelin_repeat_6_subrepeat_2; C-terminal subrepeat of tandem repeat unit 6 of reelin and related proteins
    cd10051
    Location:28893050
    Reelin_repeat_7_subrepeat_2; C-terminal subrepeat of tandem repeat unit 7 of reelin and related proteins
    cd10052
    Location:32663426
    Reelin_repeat_8_subrepeat_2; C-terminal subrepeat of tandem repeat unit 8 of reelin and related proteins
    cl15240
    Location:421556
    Reelin_subrepeat_like; Tandem repeat subunit of reelin and related proteins
    cd08544
    Location:48178
    Reeler; Reeler, the N-terminal domain of reelin, F-spondin, and a variety of other proteins
    pfam07974
    Location:21302159
    EGF_2; EGF-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    103471784..103989658 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center