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VANGL2 Gene

protein-coding   GIFtS: 59
GCID: GC01P160370

VANGL Planar Cell Polarity Protein 2

(Previous names: vang (van gogh, Drosophila)-like 2, vang, van gogh-like...)
  See VANGL2-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)
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Aliases
VANGL Planar Cell Polarity Protein 21 2     Van Gogh-Like 21
Vang-Like 2 (Van Gogh, Drosophila)1 2     vang1
Loop-Tail-Associated Protein1 2     Vang (Van Gogh, Drosophila)-Like 2, Vang, Van Gogh-Like 2 (Drosophila)1
Loop-Tail Protein 1 Homolog2 3     LPP12
Strabismus 12 3     STBM2
Van Gogh-Like Protein 22 3     STBM12
STB12 3     Vang-Like Protein 22
LTAP2 5     KIAA12153
strabismus1     

External Ids:    HGNC: 155111   Entrez Gene: 572162   Ensembl: ENSG000001627387   OMIM: 6005335   UniProtKB: Q9ULK53   

Export aliases for VANGL2 gene to outside databases

Previous GC identifers: GC01P158177 GC01P156117 GC01P157163 GC01P157585 GC01P157587 GC01P157183 GC01P158636 GC01P131726


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for VANGL2 Gene:
The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity,
especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to
individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the
neural plate. (provided by RefSeq, Sep 2011)

GeneCards Summary for VANGL2 Gene:
VANGL2 (VANGL planar cell polarity protein 2) is a protein-coding gene. Diseases associated with VANGL2 include strabismus, and vangl2-related neural tube defect. An important paralog of this gene is VANGL1.

UniProtKB/Swiss-Prot: VANG2_HUMAN, Q9ULK5
Function: Involved in the control of early morphogenesis and patterning of both axial midline structures and the
development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the
orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing
cells in the outflow tract and seems to act via RHOA signaling to regulate this process (By similarity)




(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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VANGL2 gene promoter:
         USF1   AML1a   MAZR   Pax-2   Pax-2a   Nkx2-5   GATA-1   Pax-2b   USF-1   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVANGL2 promoter sequence
   Search Chromatin IP Primers for VANGL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VANGL2


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

Entrez Gene cytogenetic band: 1q22-q23   Ensembl cytogenetic band:  1q23.2   HGNC cytogenetic band: 1q22-q23

VANGL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VANGL2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P160370:  view genomic region     (about GC identifiers)

Start:
160,370,364 bp from pter      End:
160,398,468 bp from pter
Size:
28,105 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: VANG2_HUMAN, Q9ULK5 (See protein sequence)
Recommended Name: Vang-like protein 2  
Size: 521 amino acids; 59714 Da
Subunit: Homodimer and heterodimer with VANGL1. Interacts through its C-terminal region with the N-terminal half
of DVL1, DVL2 and DVL3. The PDZ domain of DVL1, DVL2 and DVL3 is required for the interaction. Also interacts
with the PDZ domains of MAGI3, SCRIB/SCRB1 and FZD3 (By similarity)
Sequence caution: Sequence=BAA86529.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: D3DVE9 Q5T212

Explore the universe of human proteins at neXtProt for VANGL2: NX_Q9ULK5

Explore proteomics data for VANGL2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See VANGL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065068.1  
    ENSEMBL proteins: 
     ENSP00000357040  
    Reactome Protein details: Q9ULK5

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR009539 Strabismus

    Graphical View of Domain Structure for InterPro Entry Q9ULK5

    ProtoNet protein and cluster: Q9ULK5

    1 Blocks protein domain: IPB009539 Strabismus

    UniProtKB/Swiss-Prot: VANG2_HUMAN, Q9ULK5
    Similarity: Belongs to the Vang family


    Find genes that share domains with VANGL2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VANG2_HUMAN, Q9ULK5
    Function: Involved in the control of early morphogenesis and patterning of both axial midline structures and the
    development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the
    orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing
    cells in the outflow tract and seems to act via RHOA signaling to regulate this process (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with VANGL2           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 10 alleles(MGI details for Vangl2) (see all 20):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  embryogenesis 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  limbs/digits/tail 
     mortality/aging  nervous system  no phenotypic analysis  normal  other 

    Find genes that share phenotypes with VANGL2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for VANGL2: Vangl2tm1.2Yy Vangl2tm1.2Mdea Vangl2tm2.2Mdea

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VANGL2
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    miRNA
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    miRTarBase miRNAs that target VANGL2:
    hsa-mir-26b-5p (MIRT029478), hsa-mir-335-5p (MIRT017700), hsa-mir-92a-3p (MIRT049626)

    Block miRNA regulation of human, mouse, rat VANGL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VANGL2 (see all 91):
    hsa-miR-549 hsa-miR-520f hsa-miR-938 hsa-miR-128 hsa-miR-3653 hsa-miR-890 hsa-miR-3613-3p hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidVANGL2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for VANGL2
    Predesigned siRNA for gene silencing in human, mouse, rat VANGL2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: VANGL2 (NM_020335)
    Sino Biological Human cDNA Clone for VANGL2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VANGL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VANGL2
    Addgene plasmids for VANGL2 

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    eBioscience FlowRNA Probe Sets ( VA1-12004) for VANGL2 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VANG2_HUMAN, Q9ULK5: Cell membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytoskeleton1
    endoplasmic reticulum1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005911cell-cell junction ISS--
    GO:0016021integral component of membrane IEA--
    GO:0016323basolateral plasma membrane IEA--
    GO:0016324apical plasma membrane ISS--

    Find genes that share ontologies with VANGL2           About GenesLikeMe


    (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).
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    SuperPaths for VANGL2 About    
    See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40
    Wnt Signaling Pathway NetPath0.37
    2beta-catenin independent WNT signaling
    beta-catenin independent WNT signaling0.79
    Signaling by Wnt0.79
    3CDK-mediated phosphorylation and removal of Cdc6
    Asymmetric localization of PCP proteins0.75
    PCP/CE pathway0.70
    4Signaling by GPCR
    Signal Transduction0.58


    Find genes that share SuperPaths with VANGL2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for VANGL2
        Wnt Signaling Pathway NetPath


    2 Reactome Pathways for VANGL2
        Asymmetric localization of PCP proteins
    PCP/CE pathway


    1 Kegg Pathway  (Kegg details for VANGL2):
        Wnt signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including VANGL2: 
              Primary Cilia in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for VANGL2

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

    Selected Interacting proteins for VANGL2 (Q9ULK53 ENSP000003570404) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DVL1O146403, ENSP000003681694I2D: score=1 STRING: ENSP00000368169
    DVL2O146413, ENSP000000053404I2D: score=3 STRING: ENSP00000005340
    DVL3Q929973, ENSP000003160544I2D: score=2 STRING: ENSP00000316054
    SFRP2Q96HF13, ENSP000002740634I2D: score=1 STRING: ENSP00000274063
    YWHAGP619813, ENSP000003063304I2D: score=1 STRING: ENSP00000306330
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 38):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001736establishment of planar polarity ISS--
    GO:0001843neural tube closure ISS--
    GO:0001942hair follicle development IEA--
    GO:0001947heart looping ISS--
    GO:0003149membranous septum morphogenesis IEA--

    Find genes that share ontologies with VANGL2           About GenesLikeMe



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

    Browse Tocris compounds for VANGL2 (VANG2)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for VANGL2 gene: 
    NM_020335.2  

    Unigene Cluster for VANGL2:

    VANGL planar cell polarity protein 2
    Hs.99477  [show with all ESTs]
    Unigene Representative Sequence: NM_020335
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368061(uc001fwb.2 uc001fwc.2) ENST00000483408
    miRNA
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    Block miRNA regulation of human, mouse, rat VANGL2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VANGL2 (see all 91):
    hsa-miR-549 hsa-miR-520f hsa-miR-938 hsa-miR-128 hsa-miR-3653 hsa-miR-890 hsa-miR-3613-3p hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidVANGL2 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for VANGL2 
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat VANGL2
      QuantiTect SYBR Green Assays in human, mouse, rat VANGL2
      QuantiFast Probe-based Assays in human, mouse, rat VANGL2
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    Additional mRNA sequence: 

    AB033041.1 AK290981.1 AL137558.1 BC103920.2 

    4 DOTS entries:

    DT.436217  DT.97839802  DT.40289365  DT.92413549 

    Selected AceView cDNA sequences (see all 86):

    AA922668 AI906686 AW662267 AA298737 BM717001 CA503116 AI697392 BM678651 
    BE674679 BX284039 BM722069 BU162175 BX505270 AB033041 AA235772 AI401401 
    CB243283 T31186 BE256202 T07701 BG059541 AA454663 AA379851 BE348554 

    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)
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    VANGL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGAAAATTG
    VANGL2 Expression
    About this image


    VANGL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Umbilical Cord (Extraembryonic Tissues)
             Umbilical Arteries
    VANGL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VANGL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.99477
        Pathway & Disease-focused RT2 Profiler PCR Arrays including VANGL2: 
              Primary Cilia in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VANGL2

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for VANGL2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vangl21 , 5 vang-like 2 (van gogh, Drosophila)1, 5 89.89(n)1
    99.42(a)1
      1 (79.54 cM)5
    938401  NM_033509.31  NP_277044.11 
     1720009605 
    chicken
    (Gallus gallus)
    Aves VANGL21 vang-like 2 (van gogh, Drosophila) 85.22(n)
    92.51(a)
      426903  XM_004948247.1  XP_004948304.1 
    lizard
    (Anolis carolinensis)
    Reptilia VANGL26
    VANGL planar cell polarity protein 2
    92(a)
    1 ↔ 1
    GL344741.1(43218-50193)
    African clawed frog
    (Xenopus laevis)
    Amphibia AF387816.12   -- 80.96(n)    AF387816.1 
    zebrafish
    (Danio rerio)
    Actinopterygii vangl22 vang-like 2 (van gogh, Drosophila) 78.27(n)   245949  AF428249.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vang3 establishment and/or maintenance of
    cell polarity
    46(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea B0410.2a3   -- 31(a)
    (best of 2)
      X(2921174-2925603)   --


    ENSEMBL Gene Tree for VANGL2 (if available)
    TreeFam Gene Tree for VANGL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VANGL2 gene
    VANGL12  
    1 SIMAP similar gene for VANGL2 using alignment to 1 protein entry:     VANG2_HUMAN:
    VANGL1

    Find genes that share paralogs with VANGL2           About GenesLikeMe



    (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)
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    Selected SNPs for VANGL2 (see all 643)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0672214
    Neural tube defects (NTD)4--see VAR_0672212 S F mis40--------
    VAR_0672234
    Neural tube defects (NTD)4--see VAR_0672232 F S mis40--------
    VAR_0672224
    Neural tube defects (NTD)4--see VAR_0672222 R C mis40--------
    rs1457172861,2
    Cuntested1166885182(+) CTGCTC/TGTGGT 2 L syn11Minor allele frequency- T:0.00NA 4552
    rs348262181,2
    C--160369919(+) AAAAA-/ATCAAT 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs113493381,2
    C--160370868(+) CCCCC-/CAACTT 1 -- int10--------
    rs38354781,2
    C--160372938(+) AGACC-/T/TT  
            
    TTTTT
    1 -- int1 trp32NA CSA 4
    rs1998056601,2
    C--160373455(+) TAGGGA/GANNNN 1 -- int10--------
    rs114016201,2
    C--160383074(+) TTTTTT/-GAGAC 1 -- int1 trp31Minor allele frequency- -:0.50NA 2
    rs581213381,2
    C--160391000(+) AGAGG-/AGAGGA
    G
    /GAGAGGA
    AGAGG
    1 -- int10--------

    HapMap Linkage Disequilibrium report for VANGL2 (160370364 - 160398468 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for VANGL2: --
    Human Gene Mutation Database (HGMD): VANGL2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VANGL2
    DNA2.0 Custom Variant and Variant Library Synthesis for VANGL2

    (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

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    OMIM gene information: 600533   
    OMIM disorders: 182940  
    UniProtKB/Swiss-Prot: VANG2_HUMAN, Q9ULK5
  • Neural tube defects (NTD) [MIM:182940]: Congenital malformations of the central nervous system and
    adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of
    neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly,
    myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of
    the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20 diseases for VANGL2:    
    About MalaCards
    strabismus    vangl2-related neural tube defect    craniorachischisis    isolated anencephaly/exencephaly
    strabismus 1    neural tube defects    thoracolumbosacral spina bifida cystica    lumbosacral spina bifida cystica
    upper thoracic spina bifida aperta    cervical spina bifida aperta    upper thoracic spina bifida cystica    total spina bifida cystica
    total spina bifida aperta    cervical spina bifida cystica    cervicothoracic spina bifida aperta    lumbosacral spina bifida aperta
    cervicothoracic spina bifida cystica    thoracolumbosacral spina bifida aperta    spina bifida    tetralogy of fallot

    1 disease from the University of Copenhagen DISEASES database for VANGL2:
    Hyperopia

    Find genes that share disorders with VANGL2           About GenesLikeMe

    3 Novoseek inferred disease relationships for VANGL2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    craniorachischisis 94.4 3 11709546 (1), 20329788 (1)
    neural tube defects 68.9 2 11709546 (1), 20329788 (1)
    strabismus 56.9 2 11709546 (1)

    Genetic Association Database (GAD): VANGL2
    Human Genome Epidemiology (HuGE) Navigator: VANGL2 (1 document)

    Export disorders for VANGL2 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

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    PubMed articles for VANGL2 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with VANGL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. VANGL2 mutations in human cranial neural-tube defects. (PubMed id 20558380)1, 2, 4 Lei Y.P.... Wang H.Y. (N. Engl. J. Med. 2010)
    2. A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (PubMed id 19734545)1, 4 Need A.C....Goldstein D.B. (Hum. Mol. Genet. 2009)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail. (PubMed id 11431695)1, 3 Kibar Z....Gros P. (Nat. Genet. 2001)
    6. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)1, 2 Nagase T.... Ohara O. (DNA Res. 1999)
    7. Mutation analysis of the Vangl2 coding region revealed no common cause for Tetralogy of Fallot. (PubMed id 18034999)1, 9 Erdal E....AAsikel U. (J. Int. Med. Res. 2007)
    8. Van-Gogh-like 2 antagonises the canonical WNT pathway and is methylated in colorectal cancers. (PubMed id 23579212)1 Piazzi G....Ricciardiello L. (Br. J. Cancer 2013)
    9. Contribution of VANGL2 mutations to isolated neural tube defects. (PubMed id 20738329)1 Kibar Z....Gros P. (Clin. Genet. 2011)
    10. Loss of membrane targeting of Vangl proteins causes neural tube defects. (PubMed id 21142127)1 Iliescu A....Gros P. (Biochemistry 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 57216 HGNC: 15511 AceView: VANGL2 Ensembl:ENSG00000162738 euGenes: HUgn57216
    ECgene: VANGL2 Kegg: 57216 H-InvDB: VANGL2

    (According to HUGE)
    About This Section

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    HUGE: KIAA1215

    (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

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    NameDescription
    PharmGKB entry for VANGL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for VANGL2 gene:
    Search GeneIP for patents involving VANGL2

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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)
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