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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RELN Gene

protein-coding   GIFtS: 61
GCID: GC07M103112

Reelin

Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
reelin1 2
RL2 5
LIS22
PRO15982
EC 3.4.21.-3
EC 3.4.218

External Ids:    HGNC: 99571   Entrez Gene: 56492   Ensembl: ENSG000001890567   OMIM: 6005145   UniProtKB: P785093   

Export aliases for RELN gene to outside databases

Previous GC identifers: GC07M101596 GC07M101595 GC07M102658 GC07M102672 GC07M102706 GC07M102899 GC07M097472


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RELN Gene:
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)

GeneCards Summary for RELN Gene: 
RELN (reelin) is a protein-coding gene. Diseases associated with RELN include lissencephaly 2, and temporal lobe epilepsy, and among its related super-pathways are Focal Adhesion and Non-integrin membrane-ECM interactions. GO annotations related to this gene include serine-type peptidase activity and very-low-density lipoprotein particle receptor binding.

UniProtKB/Swiss-Prot: RELN_HUMAN, P78509
Function: Extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex and
cerebellum. Regulates microtubule function in neurons and neuronal migration. Affects migration of sympathetic
preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic
activity is important for the modulation of cell adhesion. Binding to the extracellular domains of lipoprotein
receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation
(By similarity)

Gene Wiki entry for RELN (Reelin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RELN gene promoter:
         TBP   GATA-3   XBP-1   Cdc5   c-Ets-1   PPAR-alpha   Max   Msx-1   Pax-4a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 10): RELN promoter sequence
   Search SABiosciences Chromatin IP Primers for RELN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RELN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q22   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q22

RELN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RELN gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M103112:  view genomic region     (about GC identifiers)

Start:
103,112,231 bp from pter      End:
103,629,963 bp from pter
Size:
517,733 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 102,473,053-102,990,385     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RELN_HUMAN, P78509 (See protein sequence)
Recommended Name: Reelin precursor  
Size: 3460 amino acids; 388388 Da
Subunit: Binds to the ectodomains of VLDLR and LRP8/APOER2 (By similarity)
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
Developmental stage: Expressed in fetal and postnatal brain and liver. Expression in postnatal human brain is high
in the cerebellum
Secondary accessions: A4D0P9 A4D0Q0 Q86UJ0 Q86UJ8 Q8NDV0 Q9UDQ2
Alternative splicing: 3 isoforms:  P78509-1   P78509-2   P78509-3   

Explore the universe of human proteins at neXtProt for RELN: NX_P78509

Explore proteomics data for RELN at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P78509

  • 4/62 DME Specific Peptides for RELN (P78509) (see all 62)
     TRFRWIQ  WALDNIL  EFTQWRR  EEFESQP 

    RELN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RELN Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_005036.2  NP_774959.1  

    ENSEMBL proteins: 
     ENSP00000392423   ENSP00000345694   ENSP00000404818   ENSP00000388446  

    Human Recombinant Protein Products for RELN: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space ISS--
    GO:0005737cytoplasm ISS--
    GO:0030425dendrite ISS--

    RELN for ontologies           About GeneDecksing



    RELN Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of RELN
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    Browse Antibodies at Cloud-Clone Corp. 
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    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR000742 EG-like_dom
     IPR011040 Sialidases
     IPR013032 EGF-like_CS
     IPR002861 Reeler_dom

    Graphical View of Domain Structure for InterPro Entry P78509

    ProtoNet protein and cluster: P78509

    2 Blocks protein domains:
    IPB002861 Reeler region
    IPB006210 Type I EGF


    UniProtKB/Swiss-Prot: RELN_HUMAN, P78509
    Domain: The basic C-terminal region is essential for secretion (By similarity)
    Similarity: Belongs to the reelin family
    Similarity: Contains 16 BNR repeats
    Similarity: Contains 8 EGF-like domains
    Similarity: Contains 1 reelin domain


    RELN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RELN_HUMAN, P78509
    Function: Extracellular matrix serine protease that plays a role in layering of neurons in the cerebral cortex and
    cerebellum. Regulates microtubule function in neurons and neuronal migration. Affects migration of sympathetic
    preganglionic neurons in the spinal cord, where it seems to act as a barrier to neuronal migration. Enzymatic
    activity is important for the modulation of cell adhesion. Binding to the extracellular domains of lipoprotein
    receptors VLDLR and LRP8/APOER2 induces tyrosine phosphorylation of DAB1 and modulation of TAU phosphorylation
    (By similarity)

         Genatlas biochemistry entry for RELN:
    mouse reelin homolog,338kDa,containing a CGG repeat in 5'utr,expressed in pioneer neurons,fetal,postnatal brain
    and liver,involved in neuronal migration,mutated in mouse reeler

         Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.-1

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004712protein serine/threonine/tyrosine kinase activity ISS--
    GO:0005515protein binding ----
    GO:0008236serine-type peptidase activity IEA--
    GO:0046872metal ion binding IEA--
    GO:0070325lipoprotein particle receptor binding ISS10571240
         
    RELN for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for RELN:
     Decreased G3BP1 protein expres  Synthetic lethal with Ras 

         10 MGI mutant phenotypes (inferred from 13 alleles(MGI details for Reln):
     behavior/neurological  cellular  digestive/alimentary  growth/size  integument 
     mortality/aging  muscle  nervous system  reproductive system  vision/eye 

    RELN for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RELN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RELN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RELN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RELN 

    miRNA
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    miRTarBase miRNAs that target RELN:
    hsa-mir-128 (MIRT001071)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RELN
    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate RELN (see all 36):
    hsa-miR-429 hsa-miR-15a hsa-miR-128 hsa-miR-449a hsa-miR-218 hsa-miR-424 hsa-miR-34b hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidRELN 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): RELN (NM_005045)
    Browse Sino Biological Human cDNA Clones
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    LifeMap BioReagents: cell line associated with RELN: PureStem ES-209, Meso-prx/latp Progenitor
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RELN


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RELN About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Focal Adhesion
    Focal Adhesion0.64
    Focal adhesion0.64
    2Non-integrin membrane-ECM interactions
    ECM-receptor interaction0.42
    3Reelin signaling pathway
    Reelin signaling pathway
    4Reelin Pathway (Cajal-Retzius cells)
    Reelin Pathway (Cajal-Retzius cells)
    5Lissencephaly gene (LIS1) in neuronal migration and development
    Lissencephaly gene (LIS1) in neuronal migration and development

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RELN
        Guidance Cues and Growth Cone Motility
    Reelin Pathway (Cajal-Retzius cells)

    3 BioSystems Pathways for RELN
        Focal Adhesion
    Lissencephaly gene (LIS1) in neuronal migration and development
    Reelin signaling pathway


    3         Kegg Pathways  (Kegg details for RELN):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction


    RELN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RELN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/49 Interacting proteins for RELN (P785093 ENSP000003924234) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRP8Q141143, ENSP000003036344I2D: score=2 STRING: ENSP00000303634
    VLDLRP981553, ENSP000003715324I2D: score=2 STRING: ENSP00000371532
    PCDHA4Q9UN743, ENSP000003493444I2D: score=1 STRING: ENSP00000349344
    DAB1O755533I2D: score=1 
    PCDHA6Q9UN733I2D: score=1 
    About this table

    Gene Ontology (GO): 5/43 biological process terms (GO ID links to tree view) (see all 43):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000904cell morphogenesis involved in differentiation ISS--
    GO:0001764neuron migration ISS--
    GO:0006508proteolysis IEA--
    GO:0007155cell adhesion IEA--
    GO:0007411axon guidance ISS--

    RELN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RELN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RELN

    10/17 Novoseek inferred chemical compound relationships for RELN gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    imidazenil 71.6 1 15864560 (1)
    gaba 46.1 32 15581395 (2), 11466432 (1), 14977367 (1), 15864560 (1) (see all 11)
    glutamate 45.6 30 17065238 (2), 10684887 (1), 10725376 (1), 14708030 (1) (see all 24)
    cytosine 38.6 3 16606618 (1), 17259861 (1), 18757738 (1)
    tyrosine 38.1 32 15718228 (3), 10090720 (2), 15062102 (2), 12376533 (2) (see all 22)
    valproate 36.3 3 16113080 (1), 15737665 (1)
    phosphoinositide 24.3 3 15632144 (3)
    nmda 24.1 10 16148228 (4), 15072103 (1), 19674510 (1), 19805234 (1) (see all 5)
    s-adenosylmethionine 19.8 1 17259861 (1)
    methionine 12.8 5 18757738 (1), 16113080 (1), 15737665 (1), 19395859 (1)

    Search CenterWatch for drugs/clinical trials and news about RELN

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RELN gene (2 alternative transcripts): 
    NM_005045.3  NM_173054.2  

    Unigene Cluster for RELN:

    Reelin
    Hs.655654  [show with all ESTs]
    Unigene Representative Sequence: U79716
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000428762(uc022ajr.1) ENST00000343529(uc022ajq.1 uc010liz.3)
    ENST00000429186 ENST00000473945 ENST00000478148 ENST00000473457 ENST00000424685


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    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate RELN (see all 36):
    hsa-miR-429 hsa-miR-15a hsa-miR-128 hsa-miR-449a hsa-miR-218 hsa-miR-424 hsa-miR-34b hsa-miR-200b
    SwitchGear 3'UTR luciferase reporter plasmidRELN 3' UTR sequence
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    Additional mRNA sequence: 

    AK093843.1 AK293863.1 AK297459.1 AY927583.1 AY927586.1 U79716.1 

    12 DOTS entries:

    DT.113895  DT.121065678  DT.99999278  DT.95152744  DT.121065696  DT.86843429  DT.99931768  DT.121065822 
    DT.95245427  DT.95290143  DT.113897  DT.40108138 

    24/80 AceView cDNA sequences (see all 80):

    AV648768 BU733643 BI491416 CA393692 BG610872 NM_173054 H57421 CA390829 
    BX953768 AI923860 CD516128 NM_005045 BU838476 BQ884015 F10316 AL119326 
    BQ882577 BU838411 AI694957 BU838430 AL703667 BE782439 BX493922 AV648584 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RELN expression in normal human tissues (normalized intensities)      RELN embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTAAATAAA
    RELN Expression
    About this image


    RELN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
             Olfactory Bulb   
     
     Heart (Cardiovascular System)    fully expand to see all 8 entries
             Cardiac Crescent Cells Cardiac Crescent
             Atrioventricular Node
             Cardiomyocyte-like progenitor cells ( Derivation of cardiomyocytes from pluripotent...
             Coronary Artery Smooth Muscle Cells (CASMC)   
             heart/ventricle   
     
     Eye (Sensory Organs)    fully expand to see all 5 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Retina
             Human Retinal Pigment Epithelial Cells (HRPEpiC)   
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
     
     Endothelium (Cardiovascular System)    fully expand to see all 4 entries
             Sinusoidal Endothelial Cells Sinusoids
             Embryoid bodies ( Two-step protocol for endothelial differentiation by embryoid...
             Human Intestinal Microvascular Endothelial Cells (HIMEC)   

    See RELN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RELN

    SOURCE GeneReport for Unigene cluster: Hs.655654

    UniProtKB/Swiss-Prot: RELN_HUMAN, P78509
    Tissue specificity: Abundantly produced during brain ontogenesis by the Cajal-Retzius cells and other pioneer
    neurons located in the telencephalic marginal zone and by granule cells of the external granular layer of the
    cerebellum. In adult brain, preferentially expressed in GABAergic interneurons of prefrontal cortices, temporal
    cortex, hippocampus and glutamatergic granule cells of cerebellum. Expression is reduced to about 50% in patients
    with schizophrenia. Also expressed in fetal and adult liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including RELN: 
              Liver Cancer in human mouse rat
              Synaptic Plasticity in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RELN
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RELN

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for RELN gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Reln1 , 5 reelin1, 5 88.42(n)1
    95.23(a)1
      5 (9.98 cM)5
    196991  NM_011261.21  NP_035391.21 
     218844545 
    chicken
    (Gallus gallus)
    Aves RELN1 reelin 81.26(n)
    90.59(a)
      427850  XM_425424.3  XP_425424.3 
    lizard
    (Anolis carolinensis)
    Reptilia RELN6
    Uncharacterized protein
    89(a)
    1 ↔ 1
    5(95486244-95727642)
    African clawed frog
    (Xenopus laevis)
    Amphibia reln2 reelin 77.77(n)    AF427525.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AF427524.12   -- 73.25(n)   260303  AF427524.1 


    ENSEMBL Gene Tree for RELN (if available)
    TreeFam Gene Tree for RELN (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: RELN_HUMAN, P78509
    Polymorphism: A polymorphic GGC triplet repeat located in the 5'-UTR region of RELN gene, which harbors in the
    normal population 8 to 10 repeats, is significantly increased in autistic patients to carry 4 to 23 additional
    repeats


    10/12549 SNPs in RELN are shown (see all 12549)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs355880281,2
    C--97595440(+) TTTTTT/-CAGCT 2 -- int11Minor allele frequency- -:0.50NA 2
    rs725805201,2
    C--97648146(+) AAAAA-/AAACTGT 2 -- int10--------
    rs113643771,2
    C--97756226(+) AAAAT-/AAAAAA 2 -- int10--------
    rs346169501,2
    C--97858014(+) GGTTT-/TCTTTT 2 -- int10--------
    rs345438841,2
    C--97865147(+) GTCTC-/AAAAAAA 2 -- int12Minor allele frequency- AA:0.25NA 4
    rs348118691,2
    C--97957399(+) AAGTG-/AAAAAAG 2 -- int12Minor allele frequency- AA:0.25NA CSA 4
    rs117654971,2
    H--102486521(+) aaaaaA/GGGAAG 2 -- int1 trp30--------
    rs1452229441,2
    C--102525829(+) AGCAA-/TGCC  
            
    TGAGG
    2 -- int10--------
    rs772008271,2
    C--102525831(+) CAATG-/CCTG  
            
    AGGCT
    2 -- int10--------
    rs30259431,2
    C--102568233(+) GAAATA/GAAATA 2 -- int10--------

    HapMap Linkage Disequilibrium report for RELN (103112231 - 103362231 bp, first 250kb of RELN)

    Structural Variations
         Database of Genomic Variants (DGV) 10/19 variations for RELN (see all 19):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv990549CNV Deletion20482838
    esv2236652CNV Deletion18987734
    esv2556237CNV Deletion19546169
    esv2734954CNV Deletion23290073
    esv3716CNV Deletion18987735
    esv1599327CNV Deletion17803354
    esv2659743CNV Deletion23128226
    nsv5886CNV Insertion18451855
    nsv523466CNV Loss19592680
    nsv517254CNV Loss19592680


    Human Gene Mutation Database (HGMD): RELN
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing RELN
    DNA2.0 Custom Variant and Variant Library Synthesis for RELN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600514   
    OMIM disorders: 257320  
    UniProtKB/Swiss-Prot: RELN_HUMAN, P78509
  • Lissencephaly 2 (LIS2) [MIM:257320]: A classic type lissencephaly associated with ataxia, mental
    retardation, seizures and abnormalities of the cerebellum, hippocampus and brainstem. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 20/45 diseases for RELN (see all 45):    About MalaCards
    lissencephaly 2    temporal lobe epilepsy    lissencephaly    cerebellar hypoplasia
    intestinal lymphangiectasia    periventricular nodular heterotopia    aplasia cutis congenita    roberts syndrome
    bipolar disorder    spinocerebellar ataxia type 7    ganglioglioma    neuronal migration disorders
    polymicrogyria    lymphedema    schizophrenia    frontotemporal dementia
    otosclerosis    autistic disorder    mood disorder    schizoaffective disorder

    5 diseases from the University of Copenhagen DISEASES database for RELN:
    Lissencephaly     Schizophrenia     Autistic disorder     Periventricular nodular heterotopia
    Alzheimer's disease

    RELN for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/30 Novoseek inferred disease relationships for RELN gene (see all 30)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cerebellar hypoplasia 83.6 10 10973257 (2), 16958033 (2), 16538086 (1), 16724181 (1) (see all 6)
    periventricular nodular heterotopia 80.1 1 16538086 (1)
    schizophrenia 70.9 107 11786309 (4), 9861036 (4), 19922905 (4), 11074872 (4) (see all 49)
    lissencephaly sequence, isolated 67.4 1 11429281 (1)
    microgyria 55.8 1 11408330 (1)
    autistic 55.7 19 12363196 (5), 17955477 (3), 11814262 (2), 11317216 (2) (see all 9)
    bipolar disorder 50.1 20 11074872 (4), 11126396 (3), 11711858 (2), 10725376 (1) (see all 10)
    neuropathology 49.3 3 11786309 (1), 16113080 (1)
    ganglioglioma 39.9 4 15175076 (2), 12200628 (2)
    psychiatric disorder 38.5 9 17522709 (1), 19110320 (1), 12645087 (1), 11126396 (1) (see all 8)

    Genetic Association Database (GAD): RELN
    Human Genome Epidemiology (HuGE) Navigator: RELN (35 documents)

    Export disorders for RELN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RELN gene, integrated from 9 sources (see all 337):
    (articles sorted by number of sources associating them with RELN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The human reelin gene: isolation, sequencing, and mapping on chromosome 7. (PubMed id 9049633)1, 2, 3, 9 DeSilva U.... Green E.D. (1997)
    2. Reelin gene alleles and haplotypes as a factor predisposing to autistic disorder. (PubMed id 11317216)1, 2, 4, 9 Persico A.M.... Keller F. (2001)
    3. Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk. (PubMed id 17621165)1, 4, 9 Ashley-Koch A.E....Pericak-Vance M.A. (2007)
    4. A decrease of reelin expression as a putative vulnerability factor in schizophrenia. (PubMed id 9861036)1, 2, 9 Impagnatiello F.... Costa E. (1998)
    5. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. (PubMed id 10973257)1, 2, 9 Hong S.E.... Walsh C.A. (2000)
    6. The association analysis of RELN and GRM8 genes with autistic spectrum disorder in Chinese Han population. (PubMed id 17955477)1, 4, 9 Li H....Zhao Z. (2008)
    7. Evolutionarily conserved, alternative splicing of reelin during brain development. (PubMed id 10328932)1, 2, 9 Lambert de Rouvroit C....Goffinet A.M. (1999)
    8. Replication of association between working memory and Reelin, a potential modifier gene in schizophrenia. (PubMed id 19922905)1, 4, 9 Wedenoja J....Peltonen L. (2010)
    9. Genetic analysis of reelin gene (RELN) SNPs: No association with autism spectrum disorder in the Indian population. (PubMed id 18597938)1, 4, 9 Dutta S....Usha R. (2008)
    10. The RELN locus in Alzheimer's disease. (PubMed id 18599960)1, 4, 9 Seripa D....Pilotto A. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5649 HGNC: 9957 AceView: RELN Ensembl:ENSG00000189056 euGenes: HUgn5649
    ECgene: RELN Kegg: 5649 H-InvDB: RELN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RELN Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Reelin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RELN gene:
    Search GeneIP for patents involving RELN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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