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    RELN reelin [ Homo sapiens (human) ]

    Gene ID: 5649, updated on 5-Nov-2017
    Official Symbol
    RELNprovided by HGNC
    Official Full Name
    reelinprovided by HGNC
    Primary source
    HGNC:HGNC:9957
    See related
    Ensembl:ENSG00000189056 MIM:600514; Vega:OTTHUMG00000157247
    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]
    Orthologs
    Location:
    7q22.1
    Exon count:
    65
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (103471784..103989516, 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 RNA, 7SK small nuclear 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    lipoprotein particle receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein serine/threonine/tyrosine kinase activity ISS
    Inferred from Sequence or Structural Similarity
    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 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 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
     
    protein localization to synapse 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 region TAS
    Traceable Author Statement
    more info
     
    extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     

    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_011877.1 RefSeqGene

      Range
      5001..522733
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005045.3NP_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, OTTHUMP00000211830, ENST00000428762.5, OTTHUMT00000348148
      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, OTTHUMP00000211831, ENST00000343529.9, OTTHUMT00000348149
      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 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      103471784..103989516 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      103045544..103563285 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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