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

RELN Gene

protein-coding   GIFtS: 63
GCID: GC07M103112

reelin
 Explore 48 diseases affiliated with
RELN via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RELN    

Aliases
for RELN gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Reelin1
RL1 2 5
PRO15981 2
LIS22
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


Summaries
for RELN gene

(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:
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)

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)


Genomic Views
for RELN 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  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     

Proteins
for RELN gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000392423   ENSP00000345694   ENSP00000404818   ENSP00000388446  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: RELN
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    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RELN

    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
    R&D Systems Antibodies for RELN (Reelin)
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    Novus Biologicals RELN Antibodies
    Abcam antibodies for RELN 
    Uscn Antibodies for RELN
    Search ThermoFisher Antibodies for RELN

    Assay Products for RELN: 
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    GenScript Custom Assay Services for RELN
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for RELN

    Protein Domains /
    Families
    for RELN gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RELN for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    Function
    for RELN gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

         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

    miRNA
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    hsa-mir-128 (MIRT001071)

    OriGene 3'-UTR Clone (see all 2): RELN
    Browse MicroRNA Expression Plasmids
    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 plasmid: RELN 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RELN (see all 4)
    OriGene shRNA RFP: RELN
    OriGene siRNA: RELN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RELN

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

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RELN (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RELN (see all 2)
    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
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RELN 

    Cell Line
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    LifeMap BioReagents: cell line associated with RELN: PureStem ES-209, Meso-prx/latp Progenitor

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RELN

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004712protein serine/threonine/tyrosine kinase activity ISS--
    GO:0008236serine-type peptidase activity IEA--
    GO:0046872metal ion binding IEA--
    GO:0070325lipoprotein particle receptor binding ISS10571240
    GO:0070326very-low-density lipoprotein particle receptor binding ISS10571240


    RELN for ontologies           About GeneDecksing


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

    Animal Models:
         10 MGI mutant phenotypes (inferred from 11 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


    Pathways & Interactions
    for RELN gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Focal Adhesion
    		Focal Adhesion1.00
    		Focal adhesion0.66
    2Reelin Pathway (Cajal-Retzius cells)
    		Reelin Pathway (Cajal-Retzius cells)1.00
    3Guidance Cues and Growth Cone Motility
    		Guidance Cues and Growth Cone Motility1.00
    4Lissencephaly gene (LIS1) in neuronal migration and development
    		Lissencephaly gene (LIS1) in neuronal migration and development1.00
    5Reelin signaling pathway
    		Reelin signaling pathway1.00

    Pathway sources
    See GeneCards unified pathways
    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


    2         Kegg Pathways  (Kegg details for RELN):
        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)

    5/48 Interacting proteins for RELN (P785093 ENSP000003924234) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRP8Q141143, ENSP000003036344I2D: score=2 STRING: ENSP00000303634
    VLDLRP981553, ENSP000003715324I2D: score=2 STRING: ENSP00000371532
    DAB1O755533, ENSP000003602774I2D: score=1 STRING: ENSP00000360277
    PCDHA4Q9UN743, ENSP000003493444I2D: score=1 STRING: ENSP00000349344
    PCDHA6Q9UN733I2D: score=1 
    About this table

    Gene Ontology (GO): 5/42 biological process terms (GO ID links to tree view) (see all 42):    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



    Drugs & Compounds
    for RELN gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for RELN gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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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    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 plasmid: RELN 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RELN (see all 4)
    OriGene shRNA RFP: RELN
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    Clone
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RELN

    Additional cDNA 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):

    BX953768 NM_173054 BG610872 H57421 CA390829 BU838476 AI923860 CD516128 
    NM_005045 AV648768 BU733643 BI491416 CA393692 AI681008 BE043018 AL110368 
    BI198837 BX508005 AV648584 BX493922 BQ717804 U79716 BE220555 BQ006744 

    GeneLoc Exon Structure


    Expression
    for RELN gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTAAATAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RELN expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LiverSinusoidsSinusoidal Endothelial CellsEndothelium
    HeartCardiac CrescentCardiac Crescent CellsMyocardium
    KidneyMetanephric MesenchymeMetanephric Mesenchyme CellsKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 9 LifeMap Cells 
    NameCategory
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    Dorsal forebrain-like neurons (Generation of midbra...)Brain
    Ventral/hypothalamic-like neurons (Generation of midbra...)
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)
    DKK1-induced cells (Derivation of cardio...)
    Cardiomyocyte-like progenitor cells (Derivation of cardio...)
    Mesendoderm (Derivation and sorti...)
    Podocalyxin+, CD24+, GCTM2- (Derivation and sorti...)
    Podocalyxin+, CD24+, GCTM2 (low) (Derivation and sorti...)

    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

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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RELN

    Orthologs
    for RELN gene

    (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 5/14 species (see all 14)    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
    		 --
    		 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
    for RELN gene

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

    Genomic Variants
    for RELN gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/10777 NCBI SNPs in RELN are shown (see all 10777)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 7 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs38421781,2
    		C,F,--97594914(-) AAAAA-/ATAGAG 1 -- int13Minor allele frequency- A:0.33NA CSA 6
    rs1998804871,2
    		C--97612450(-) GAAGCA/CAAAAA 2 -- int10--------
    rs769788171,2
    		C--97674528(+) TCCTCC/TTCCCT 2 -- int11Minor allele frequency- T:0.00CSA 1
    rs119840571,2
    		C,F,A,H,--97693142(+) TTCTAC/GTGCAG 2 -- int15Minor allele frequency- G:0.02NS EA WA 536
    rs348118691,2
    		C--97957400(+) AAGTG-/AAAAAAG 2 -- int12Minor allele frequency- AA:0.25NA CSA 4
    rs1429664001,2
    		C,--102472582(+) TAACG-/TTTTTT 2 -- ds50010--------
    rs171490181,2
    		C,F,H,--102472775(+) TATGAG/TTGCTT 2 -- ds500115Minor allele frequency- T:0.08NA NS EA WA 2100
    rs780283911,2
    		F,--102472809(+) TAATAA/TAATTC 2 -- ds50011Minor allele frequency- T:0.03NA 120
    rs737123881,2
    		C,--102472823(+) GGAGTG/TAAGTC 2 -- ds50012Minor allele frequency- T:0.24WA 120
    rs78115711,2
    		C,F,A,H,--102473930(+) GTGGGA/GAAGTG 2 -- ut3115Minor allele frequency- G:0.12NA NS EA WA CSA 1356

    HapMap Linkage Disequilibrium report for RELN (103112231 - 103362231 bp, first 250kb of RELN)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 9 variations for RELN
         3 CNVs: 9581 100061 52041
         6 Indels: 62706 52043 28403 41007 42600 47197
    Human Gene Mutation Database (HGMD): RELN

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RELN
    DNA2.0 Custom Variant and Variant Library Synthesis for RELN

    Disorders / Diseases
    for RELN gene

    (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
    RELN for disorders           About GeneDecksing

    OMIM gene information: 600514   
    OMIM disorders: 257320  
    UniProtKB/Swiss-Prot: RELN_HUMAN, P78509
  • Defects in RELN are the cause of lissencephaly type 2 (LIS2) [MIM:257320]; also known as lissencephaly with
    • cerebellar hypoplasia or Norman-Roberts syndrome. LIS2 is a classic type lissencephaly associated with abnormalities
    of the cerebellum, hippocampus and brainstem. Individuals with LIS2 are severely ataxic, mentally retarded and suffer
    from epilepsy

    20/48 diseases for RELN (see all 48):    About MalaCards
    temporal lobe epilepsy    cerebellar hypoplasia    lissencephaly    bipolar disorder
    periventricular nodular heterotopia    aplasia cutis congenita    schizophrenia    frontotemporal dementia
    heterotopia    thyroid hormone metabolism    autism spectrum disorder    neuronal migration disorders
    mood disorder    ganglioglioma    lymphedema    roberts syndrome
    intellectual disability    schizoaffective disorder    autistic disorder    polymicrogyria

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

    10/30 Novoseek 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

    Publications
    for RELN gene

    (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 327):
    (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. A decrease of reelin expression as a putative vulnerability factor in schizophrenia. (PubMed id 9861036)1, 2, 9 Impagnatiello F.... Costa E. (1998)
    4. 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)
    5. Evolutionarily conserved, alternative splicing of reelin during brain development. (PubMed id 10328932)1, 2, 9 Lambert de Rouvroit C....Goffinet A.M. (1999)
    6. Association analysis of polymorphic CGG repeat in 5' UTR of the reelin and VLDLR genes with schizophrenia. (PubMed id 12363388)1, 4, 9 Akahane A....Nanko S. (2002)
    7. Population-based and family-based association study of 5'UTR polymorphism of the reelin gene and schizophrenia. (PubMed id 15965968)1, 4, 9 Goldberger C....Krebs M.O. (2005)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    9. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    10. Identification of a single nucleotide polymorphism at the 5' promoter region of human reelin gene and association study with schizophrenia. (PubMed id 12082559)1, 4 Chen M.L....Chen C.H. (2002)

    External Searches for RELN gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing RELN gene

    (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

    Other Databases showing RELN gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RELN gene

    (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

    Intellectual Property
    for RELN gene

    (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



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    About This Section

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     RELN Proteins, Antibodies, CLIAs, and ELISAs
     Cell Line associated with RELN: PureStem ES-209, Meso-prx/latp Progenitor
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