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    RELN reelin [ Homo sapiens (human) ]

    Gene ID: 5649, updated on 2-May-2024

    Summary

    Official Symbol
    RELNprovided by HGNC
    Official Full Name
    reelinprovided by HGNC
    Primary source
    HGNC:HGNC:9957
    See related
    Ensembl:ENSG00000189056 MIM:600514; AllianceGenome:HGNC:9957
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RELN in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    65
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (103471789..103989658, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (104786230..105303683, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (103112236..103630105, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr7:103021047-103021334 Neighboring gene Sharpr-MPRA regulatory region 10264 Neighboring gene ribosomal protein S29 pseudogene 16 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:103086027-103086603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18511 Neighboring gene solute carrier family 26 member 5 Neighboring gene SLC26A5 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:103130126-103131325 Neighboring gene proteasome 26S subunit, ATPase 2 Neighboring gene uncharacterized LOC105375435 Neighboring gene Sharpr-MPRA regulatory region 15155 Neighboring gene RN7SK pseudogene 86 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:103301048-103302247 Neighboring gene Sharpr-MPRA regulatory region 11588 Neighboring gene MPRA-validated peak6667 silencer Neighboring gene Sharpr-MPRA regulatory region 1232 Neighboring gene CRISPRi-validated cis-regulatory element chr7.3907 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:103691916-103692125 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:103765716-103765879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26444 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26445 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:103904410-103905609 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:103916337-103917536 Neighboring gene origin recognition complex subunit 5 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:104001319-104001836 Neighboring gene LHFPL tetraspan subfamily member 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:104169841-104171040 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:104190573-104191772 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

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2023-12-14)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2023-12-14)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      A4D0P9, A4D0Q0, P78509, Q86UJ0, Q86UJ8, Q8NDV0, Q9UDQ2
      UniProtKB/TrEMBL
      J3KQ66
      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_173054.3NP_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/TrEMBL
      J3KQ66
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      103471789..103989658 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      104786230..105303683 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)