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    RELN reelin [ Homo sapiens ]

    Gene ID: 5649, updated on 4-Feb-2012
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    Summary

    Official Symbol
    RELNprovided by HGNC
    Official Full Name
    reelinprovided by HGNC
    Primary source
    HGNC:9957
    See related
    Ensembl:ENSG00000189056; HPRD:02742; 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; 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]
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    Genomic context

    Location :
    7q22
    Sequence :
    Chromosome: 7; NC_000007.13 (103112231..103629963, complement)
    See RELN in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene ribosomal protein S29 pseudogene 16 Neighboring gene solute carrier family 26, member 5 (prestin) Neighboring gene proteasome (prosome, macropain) 26S subunit, ATPase, 2 Neighboring gene origin recognition complex, subunit 5 Neighboring gene lipoma HMGIC fusion partner-like 3 Neighboring gene eukaryotic translation initiation factor 4B pseudogene 6

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. The role of reelin gene polymorphisms in the pathogenesis of Alzheimer's disease in a Greek population. Antoniades D, et al. J Biol Regul Homeost Agents, 2011 Jul-Sep. PMID 22023759.
    2. Functional importance of covalent homodimer of reelin protein linked via its central region. Yasui N, et al. J Biol Chem, 2011 Oct 7. PMID 21844191.
    3. The genetic variation of RELN expression in schizophrenia and bipolar disorder. Ovadia G, et al. PLoS One, 2011. PMID 21603580.
    4. Association study of RELN polymorphisms with schizophrenia in Han Chinese population. Li W, et al. Prog Neuropsychopharmacol Biol Psychiatry, 2011 Aug 1. PMID 21549172.
    5. Reelin and human nodular heterotopia. Thom M, et al. Epilepsia, 2011 Mar. PMID 21395570.

    See all (117) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. the exon 22 C/G marker of Reelin is significantly associated with Alzheimer 's disease in the Greek population
      Title: The role of reelin gene polymorphisms in the pathogenesis of Alzheimer's disease in a Greek population.
    2. analysis of the covalent homodimer of reelin protein linked via its central region
      Title: Functional importance of covalent homodimer of reelin protein linked via its central region.
    3. This study describes a positive association between RELN and SZ in the Han Chinese population, and provides genetic evidence to support the gender difference of SZ.
      Title: Association study of RELN polymorphisms with schizophrenia in Han Chinese population.
    4. study further supports the connection between RELN dysfunction and psychiatric disorders, and provides a possible functional role for a schizophrenia associated SNP.
      Title: The genetic variation of RELN expression in schizophrenia and bipolar disorder.
    5. The results of this study did not support previous positive findings and suggest that the four single-nucleotide polymorphisms (SNP) of RELN are unlikely to be associated with childhood autism in Chinese Han population.
      Title: No significant association between RELN polymorphism and autism in case-control and family-based association study in Chinese Han population.
    6. Reduced expression of reelin gene is associated with high recurrence rate of hepatocellular carcinoma.
      Title: Reduced expression of reelin (RELN) gene is associated with high recurrence rate of hepatocellular carcinoma.
    7. Association of exon 22 G/C marker or any marker in the vicinity, which is in linkage disequilibrium with this marker with epilepsy in the West Bengal population.
      Title: An association analysis of reelin gene (RELN) polymorphisms with childhood epilepsy in eastern Indian population from West Bengal.
    8. The presence of ectopically expressed Reelin attracting migrating neurons might be a common mechanism. In patients with a genetic defect the nodular heterotopia are almost exclusively bilateral and located in the periventricular region.
      Title: Reelin and human nodular heterotopia.
    9. Transgenic reelin has a direct role in promoting rapid morphological differentation and orientation of prospective layer (L6) neurons during preplate splitting.
      Title: Reelin promotes neuronal orientation and dendritogenesis during preplate splitting.
    10. In the absence of reelin, cortical layers fail to form due to inappropriate neuron migration and positioning in mouse chimeras.
      Title: Cortical layer development and orientation is modulated by relative contributions of reelin-negative and -positive neurons in mouse chimeras.
    Submit: New GeneRIF Correction See all (84)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.

    Alzheimer disease pathology in cognitively healthy elderly: A genome-wide study.

    Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.

    Genome-wide association identifies a common variant in the reelin gene that increases the risk of schizophrenia only in women.

    Lissencephaly 2 (Norman-Roberts type)

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P78509 O75553 DAB1    HPRD  PubMed  
    P78509 Q14114 LRP8    HPRD  PubMed  
    P78509 Q9UN74 PCDHA4    HPRD  PubMed  
    P78509 Q9UN73 PCDHA6    HPRD  PubMed  
    P78509 P78509 RELN    HPRD  PubMed  
    P78509 P98155 VLDLR    HPRD  PubMed  
    BioGRID:111630 BioGRID:113579 LRP8    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111630 BioGRID:111630 RELN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:111630 BioGRID:113277 VLDLR    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    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...
    • 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
    • Reelin signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      Reelin signaling pathway, organism-specific biosystem
      Reelin signaling pathway

    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
    		  
    peptidase activity 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
    axon guidance ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    locomotory behavior IEA
    Inferred from Electronic Annotation
    more info
    		  
    multicellular organismal development IEA
    Inferred from Electronic Annotation
    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 peptidyl-tyrosine phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    positive regulation of protein 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
    		  
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    reelin-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    response to pain ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    spinal cord patterning ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    thyroid hormone metabolic process IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    reelin
    Names
    reelin
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    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_011877.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_005045.3 → NP_005036.2  reelin isoform a precursor

      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, AC006981, AC073208
      Consensus CDS
      CCDS47680.1
      UniProtKB/Swiss-Prot
      P78509
      Related
      ENSP00000392423, OTTHUMP00000211830, ENST00000428762, OTTHUMT00000348148
      Conserved Domains (20) summary
      cd08544
      Location:60 – 178
      Blast Score: 202
      Reeler; Reeler, the N-terminal domain of reelin, F-spondin, and a variety of other proteins
      cd10036
      Location:202 – 351
      Blast Score: 698
      Reelin_subrepeat_Nt; Additional N-terminal subrepeat of reelin
      cd10037
      Location:526 – 671
      Blast Score: 786
      Reelin_repeat_1_subrepeat_1; N-terminal subrepeat of tandem repeat unit 1 of reelin and related proteins
      cd10038
      Location:867 – 1034
      Blast Score: 872
      Reelin_repeat_2_subrepeat_1; N-terminal subrepeat of tandem repeat unit 2 of reelin and related proteins
      cd10039
      Location:1240 – 1409
      Blast Score: 817
      Reelin_repeat_3_subrepeat_1; N-terminal subrepeat of tandem repeat unit 3 of reelin and related proteins
      cd10040
      Location:1605 – 1774
      Blast Score: 912
      Reelin_repeat_4_subrepeat_1; N-terminal subrepeat of tandem repeat unit 4 of reelin and related proteins
      cd10041
      Location:1956 – 2130
      Blast Score: 815
      Reelin_repeat_5_subrepeat_1; N-terminal subrepeat of tandem repeat unit 5 of reelin and related proteins
      cd10042
      Location:2322 – 2478
      Blast Score: 847
      Reelin_repeat_6_subrepeat_1; N-terminal subrepeat of tandem repeat unit 6 of reelin and related proteins
      cd10043
      Location:2669 – 2853
      Blast Score: 818
      Reelin_repeat_7_subrepeat_1; N-terminal subrepeat of tandem repeat unit 7 of reelin and related proteins
      cd10044
      Location:3055 – 3229
      Blast Score: 825
      Reelin_repeat_8_subrepeat_1; N-terminal subrepeat of tandem repeat unit 8 of reelin and related proteins
      cd10045
      Location:708 – 862
      Blast Score: 772
      Reelin_repeat_1_subrepeat_2; C-terminal subrepeat of tandem repeat unit 1 of reelin and related proteins
      cd10046
      Location:1065 – 1220
      Blast Score: 817
      Reelin_repeat_2_subrepeat_2; C-terminal subrepeat of tandem repeat unit 2 of reelin and related proteins
      cd10047
      Location:1447 – 1597
      Blast Score: 778
      Reelin_repeat_3_subrepeat_2; C-terminal subrepeat of tandem repeat unit 3 of reelin and related proteins
      cd10048
      Location:1800 – 1949
      Blast Score: 796
      Reelin_repeat_4_subrepeat_2; C-terminal subrepeat of tandem repeat unit 4 of reelin and related proteins
      cd10049
      Location:2165 – 2314
      Blast Score: 801
      Reelin_repeat_5_subrepeat_2; C-terminal subrepeat of tandem repeat unit 5 of reelin and related proteins
      cd10050
      Location:2514 – 2661
      Blast Score: 795
      Reelin_repeat_6_subrepeat_2; C-terminal subrepeat of tandem repeat unit 6 of reelin and related proteins
      cd10051
      Location:2889 – 3050
      Blast Score: 853
      Reelin_repeat_7_subrepeat_2; C-terminal subrepeat of tandem repeat unit 7 of reelin and related proteins
      cd10052
      Location:3266 – 3426
      Blast Score: 853
      Reelin_repeat_8_subrepeat_2; C-terminal subrepeat of tandem repeat unit 8 of reelin and related proteins
      cl15240
      Location:421 – 556
      Blast Score: 209
      Reelin_subrepeat_like; Tandem repeat subunit of reelin and related proteins.
      cl09941
      Location:1034 – 1059
      Blast Score: 90
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    2. NM_173054.2 → NP_774959.1  reelin isoform b precursor

      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, AC006981, AC073208
      Consensus CDS
      CCDS34722.1
      UniProtKB/Swiss-Prot
      P78509
      Related
      ENSP00000345694, OTTHUMP00000211831, ENST00000343529, OTTHUMT00000348149
      Conserved Domains (20) summary
      cd08544
      Location:60 – 178
      Blast Score: 202
      Reeler; Reeler, the N-terminal domain of reelin, F-spondin, and a variety of other proteins
      cd10036
      Location:202 – 351
      Blast Score: 698
      Reelin_subrepeat_Nt; Additional N-terminal subrepeat of reelin
      cd10037
      Location:526 – 671
      Blast Score: 786
      Reelin_repeat_1_subrepeat_1; N-terminal subrepeat of tandem repeat unit 1 of reelin and related proteins
      cd10038
      Location:867 – 1034
      Blast Score: 872
      Reelin_repeat_2_subrepeat_1; N-terminal subrepeat of tandem repeat unit 2 of reelin and related proteins
      cd10039
      Location:1240 – 1409
      Blast Score: 817
      Reelin_repeat_3_subrepeat_1; N-terminal subrepeat of tandem repeat unit 3 of reelin and related proteins
      cd10040
      Location:1605 – 1774
      Blast Score: 912
      Reelin_repeat_4_subrepeat_1; N-terminal subrepeat of tandem repeat unit 4 of reelin and related proteins
      cd10041
      Location:1956 – 2130
      Blast Score: 815
      Reelin_repeat_5_subrepeat_1; N-terminal subrepeat of tandem repeat unit 5 of reelin and related proteins
      cd10042
      Location:2322 – 2478
      Blast Score: 847
      Reelin_repeat_6_subrepeat_1; N-terminal subrepeat of tandem repeat unit 6 of reelin and related proteins
      cd10043
      Location:2669 – 2853
      Blast Score: 818
      Reelin_repeat_7_subrepeat_1; N-terminal subrepeat of tandem repeat unit 7 of reelin and related proteins
      cd10044
      Location:3055 – 3229
      Blast Score: 825
      Reelin_repeat_8_subrepeat_1; N-terminal subrepeat of tandem repeat unit 8 of reelin and related proteins
      cd10045
      Location:708 – 862
      Blast Score: 773
      Reelin_repeat_1_subrepeat_2; C-terminal subrepeat of tandem repeat unit 1 of reelin and related proteins
      cd10046
      Location:1065 – 1220
      Blast Score: 817
      Reelin_repeat_2_subrepeat_2; C-terminal subrepeat of tandem repeat unit 2 of reelin and related proteins
      cd10047
      Location:1447 – 1597
      Blast Score: 778
      Reelin_repeat_3_subrepeat_2; C-terminal subrepeat of tandem repeat unit 3 of reelin and related proteins
      cd10048
      Location:1800 – 1949
      Blast Score: 796
      Reelin_repeat_4_subrepeat_2; C-terminal subrepeat of tandem repeat unit 4 of reelin and related proteins
      cd10049
      Location:2165 – 2314
      Blast Score: 801
      Reelin_repeat_5_subrepeat_2; C-terminal subrepeat of tandem repeat unit 5 of reelin and related proteins
      cd10050
      Location:2514 – 2661
      Blast Score: 795
      Reelin_repeat_6_subrepeat_2; C-terminal subrepeat of tandem repeat unit 6 of reelin and related proteins
      cd10051
      Location:2889 – 3050
      Blast Score: 853
      Reelin_repeat_7_subrepeat_2; C-terminal subrepeat of tandem repeat unit 7 of reelin and related proteins
      cd10052
      Location:3266 – 3426
      Blast Score: 853
      Reelin_repeat_8_subrepeat_2; C-terminal subrepeat of tandem repeat unit 8 of reelin and related proteins
      cl15240
      Location:421 – 556
      Blast Score: 209
      Reelin_subrepeat_like; Tandem repeat subunit of reelin and related proteins.
      cl09941
      Location:1034 – 1059
      Blast Score: 90
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p5 Primary Assembly

      Range
      103112231..103629963, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      97472665..97989692, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      102473053..102990385, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC000121.1 AAB46357.2
    genomic AC002067.2 AAM49151.1
    genomic AC005064.3 (69859..119283) None
    genomic AC005101.2 AAP22330.1
    genomic AC006316.2 AAD29127.1
    genomic AC006981.3 AAS02019.1
    genomic AC010126.3 AAQ96860.1
    genomic AC073208.4 AAP22355.1
    genomic AC079918.6 None
    genomic AY101601.1 AAM51648.1
    genomic CH236947.1 EAL24410.1
      EAL24411.1
    genomic CH471070.1 EAW83336.1
      EAW83337.1
      EAW83338.1
    mRNA AK093843.1 None
    mRNA AK293863.1 BAG57256.1
    mRNA AK297459.1 BAG59882.1
    mRNA AY927583.1 None
    mRNA U79716.1 AAC51105.1
    other-genetic BC172269.1 AAI72269.1
    Protein Accession Links
    GenePept Link UniProtKB Link
    P78509.3 GenPept UniProtKB/Swiss-Prot:P78509
    Q75MM8 GenPept UniProtKB/TrEMBL:Q75MM8
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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