Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



RELN Gene

protein-coding   GIFtS: 62
GCID: GC07M103112

Reelin

  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

TryGeneCards Plus

Aliases
reelin1 2
LIS22 5
RL2 5
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 with cerebellar hypoplasia, and lissencephaly 2. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   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 Chromatin IP Primers for RELN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: RELN_HUMAN, P78509 (See protein sequence)
Recommended Name: Reelin precursor  
Size: 3460 amino acids; 388388 Da
Subunit: Oligomer of disulfide-linked homodimers. Binds to the ectodomains of VLDLR and LRP8/APOER2 (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: 

  • Glycosylation2 at Asn140, Asn257, Asn289, Asn305, Asn628, Asn1266, Asn1599, Asn1749, Asn1920, Asn2144,
                                 Asn2268, Asn2316, Asn2568, Asn2961, Asn3015, Asn3072, Asn3184, Asn3411, Asn3438
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RELN (P78509) (see all 62)
     TRFRWIQ  WALDNIL  EFTQWRR  EEFESQP 


    See RELN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000392423   ENSP00000345694   ENSP00000404818   ENSP00000388446  

    RELN Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for RELN
    OriGene Custom MassSpec
    OriGene Custom Protein Services for RELN
    GenScript Custom Purified and Recombinant Proteins Services for RELN
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    RELN Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of RELN
    R&D Systems Antibodies for RELN (Reelin)
    OriGene Antibodies for RELN
    OriGene Custom Antibody Services for RELN
    Novus Biologicals RELN Antibodies
    Abcam antibodies for RELN
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for RELN
    LSBio Antibodies in human, mouse, rat for RELN

    RELN Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RELN
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RELN
    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

    TryGeneCards Plus
    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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    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): Selected molecular function terms (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/body  integument 
     mortality/aging  muscle  nervous system  reproductive system  vision/eye 

    RELN for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RELN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target RELN:
    hsa-mir-128-3p (MIRT001071), hsa-mir-10a-5p (MIRT047548), hsa-mir-138-5p (MIRT007273)

    Block miRNA regulation of human, mouse, rat RELN using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for RELN
    Predesigned siRNA for gene silencing in human, mouse, rat RELN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RELN

    Clone
    Products:
         
    OriGene clones in human, mouse for RELN (see all 8)
    OriGene ORF clones in mouse, rat for RELN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RELN (NM_005045)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RELN
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RELN

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RELN
    ESI BIO PureStem Progenitor for RELN: 
    PureStem ES-209, Meso-prx/latp Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RELN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    RELN_HUMAN, P78509: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    plasma membrane3
    cytoskeleton2
    nucleus2
    cytosol1
    endoplasmic reticulum1
    lysosome1
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    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


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for RELN About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    2Reelin signaling pathway
    Reelin signaling pathway
    3Reelin Pathway (Cajal-Retzius cells)
    Reelin Pathway (Cajal-Retzius cells)
    4PI3K-Akt signaling pathway
    PI3K-Akt signaling pathway
    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 GeneGlobe 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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RELN: 
              Liver Cancer in human mouse rat
              Synaptic Plasticity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RELN

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

    Selected Interacting proteins for RELN (P785093 ENSP000003924234) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    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): Selected biological process terms (see all 45):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000904cell morphogenesis involved in differentiation ISS--
    GO:0001764neuron migration ISS--
    GO:0006508proteolysis ----
    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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    Browse Tocris compounds for RELN

    Selected 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)



    RELN for compounds           About GeneDecksing



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    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

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RELN using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
         
    OriGene RNAi products in human, mouse, rat for RELN
    Predesigned siRNA for gene silencing in human, mouse, rat RELN
    Clone
    Products:
         
    OriGene clones in human, mouse for RELN (see all 8)
    OriGene ORF clones in mouse, rat for RELN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RELN (NM_005045)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RELN
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RELN
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for RELN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RELN
      QuantiTect SYBR Green Assays in human, mouse, rat RELN
      QuantiFast Probe-based Assays in human, mouse, rat RELN

    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 

    Selected AceView cDNA sequences (see all 80):

    H57421 CA390829 BX953768 AI923860 CD516128 NM_005045 AV648768 BU733643 
    BI491416 CA393692 BG610872 NM_173054 BU838476 AI681008 BE220555 BQ717804 
    BE043018 U79716 BQ006744 AK093843 F12708 BM709701 BE220487 BI491860 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    RELN expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 14) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 9 entries
             Odontoblasts Dentin
             Dentin
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
             Ventral/hypothalamic-like neurons
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Cardiac Crescent Cells Cardiac Crescent
             Atrioventricular Node
             Cardiomyocyte-like progenitor cells
    RELN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RELN Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RELN: 
              Liver Cancer in human mouse rat
              Synaptic Plasticity in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for RELN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RELN
    QuantiTect SYBR Green Assays in human, mouse, rat RELN
    QuantiFast Probe-based Assays in human, mouse, rat RELN
    In Situ
    Assay Products:
     

     
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for RELN gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Reln1 , 5 reelin1, 5 88.37(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 81.37(n)
    90.8(a)
      427850  XM_425424.4  XP_425424.3 
    lizard
    (Anolis carolinensis)
    Reptilia RELN6
    reelin
    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

    TryGeneCards Plus
      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Polymorphic Variants from UniProtKB/Swiss-Prot
    RELN_HUMAN, P78509: 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


    Selected SNPs for RELN (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) Selected 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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    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

  • Selected diseases for RELN (see all 50):    
    About MalaCards
    lissencephaly with cerebellar hypoplasia    lissencephaly 2    temporal lobe epilepsy    lissencephaly
    periventricular nodular heterotopia    cerebellar hypoplasia    intestinal lymphangiectasia    roberts syndrome
    bipolar disorder    spinocerebellar ataxia type 7    aplasia cutis congenita    neuronal migration disorders
    lymphedema    ganglioglioma    polymicrogyria    frontotemporal dementia
    otosclerosis    schizophrenia    autistic disorder    mood 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

    Selected 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

    TryGeneCards Plus

    PubMed articles for RELN gene, integrated from 10 sources (see all 342):
    (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. (Genome Res. 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. (Mol. Psychiatry 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. (Psychiatr. Genet. 2007)
    4. A decrease of reelin expression as a putative vulnerability factor in schizophrenia. (PubMed id 9861036)1, 2, 9 Impagnatiello F.... Costa E. (Proc. Natl. Acad. Sci. U.S.A. 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. (Nat. Genet. 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. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008)
    7. Evolutionarily conserved, alternative splicing of reelin during brain development. (PubMed id 10328932)1, 2, 9 Lambert de Rouvroit C....Goffinet A.M. (Exp. Neurol. 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. (Biol. Psychiatry 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. (Neurosci. Lett. 2008)
    10. The RELN locus in Alzheimer's disease. (PubMed id 18599960)1, 4, 9 Seripa D....Pilotto A. (J. Alzheimers Dis. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     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

    TryGeneCards Plus
    Entrez Gene: 5649 HGNC: 9957 AceView: RELN Ensembl:ENSG00000189056 euGenes: HUgn5649
    ECgene: RELN Kegg: 5649 H-InvDB: RELN

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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

    TryGeneCards Plus
    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     Browse Small Molecules at EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of RELN
     
     EMD Millipore genomic analysis products

      
     Antibodies for RELN (Reelin)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for RELN   OriGene RNAi products in human, mouse, rat for RELN  
     Browse OriGene qPCR primer pairs and template standards   OriGene Protein Over-expression Lysate for RELN  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for RELN  
     OriGene qSTAR qPCR primer pairs in human, mouse for RELN   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for RELN   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for RELN   OriGene Custom Protein Services for RELN  

     
     
     Block miRNA regulation of human, mouse, rat RELN using miScript Target Protectors SeqTarget long-range PCR primers for resequencing RELN
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RELN Predesigned siRNA for gene silencing in human, mouse, rat RELN
     QuantiFast Probe-based Assays in human, mouse, rat RELN QuantiTect SYBR Green Assays in human, mouse, rat RELN
     PCR Arrays including human, mouse, rat RELN Search Chromatin IP Primers for RELN
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RELN  GeneGlobe Interaction Network for RELN
     Regulatory tfbs in RELN promoter
     GenScript Custom Purified and Recombinant Proteins Services for RELN GenScript cDNA clones with any tag delivered in your preferred vector for RELN
     GenScript Custom Assay Services for RELN GenScript Custom overexpressing Cell Line Services for RELN
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for RELN
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     RELN antibodies
     Antibodies for RELN
     See all of Abcam's Antibodies, Kits and Proteins for RELN
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.



     PureStem Progenitor for RELN: PureStem ES-209, Meso-prx/latp Progenitor
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RELN
     SwitchGear 3'UTR luciferase reporter plasmids for RELN
     SwitchGear Promoter luciferase reporter plasmids for RELN
     Search ThermoFisher Antibodies for RELN
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RELN
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RELN
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RELN
     LSBio Antibodies in human, mouse, rat for RELN
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      RELN gene at Home site.
    Version: 3.12.166 28 Aug 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4