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

VANGL2 Gene

protein-coding   GIFtS: 56
GCID: GC01P160370

vang-like 2 (van gogh, Drosophila)

(Previous names: vang (van gogh, Drosophila)-like 2, vang, van gogh-like...)
 Explore 11 diseases affiliated with
VANGL2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for VANGL2    

Aliases
for VANGL2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Vang-Like 2 (Van Gogh, Drosophila)1 2     Strabismus 12 3
STB11 2 3     Van Gogh-Like Protein 22 3
LTAP1 2 5     MGC1194031
LPP11 2     MGC1194041
STBM1 2     Vang (Van Gogh, Drosophila)-Like 2, Vang, Van Gogh-Like 2 (Drosophila)1
STBM11 2     Loop-Tail-Associated Protein2
KIAA12151 3     Vang-Like Protein 22
Loop-Tail Protein 1 Homolog2 3     

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


Summaries
for VANGL2 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 VANGL2:
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)

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)




Genomic Views
for VANGL2 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_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences 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 plasmid: VANGL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for VANGL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for VANGL2 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: VANG2_HUMAN, Q9ULK5 (See protein sequence)
Recommended Name: Vang-like protein 2  
Size: 521 amino acids; 59714 Da
Subunit: 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)
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9ULK5

    • VANGL2 Protein expression data from MOPED and PaxDb:    About this image 
    VANGL2 Protein Expression
    REFSEQ proteins: NP_065068.1  
    ENSEMBL proteins: 
     ENSP00000357040  

    Human Recombinant Protein Products for VANGL2: 
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    Novus Biologicals VANGL2 Protein
    Novus Biologicals VANGL2 Lysate
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for VANGL2

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

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

    VANGL2 for ontologies           About GeneDecksing



    VANGL2 Antibody Products: 
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    Uscn ELISAs and CLIAs for VANGL2

    Protein Domains /
    Families
    for VANGL2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    VANGL2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009539 Strabismus

    Graphical View of Domain Structure for InterPro Entry Q9ULK5

    ProtoNet protein and cluster: Q9ULK5

    1 Blocks protein family: IPB009539 Strabismus

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


    Function
    for VANGL2 gene

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    VANGL2 for ontologies           About GeneDecksing


    Phenotypes:
         15/20 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Vangl2) (see all 20):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  embryogenesis 
     growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  limbs/digits/tail 
     mortality/aging  nervous system  no phenotypic analysis  normal  other 

    VANGL2 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for VANGL2: Vangl2tm1.2Yy Vangl2tm1.2Mdea
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for VANGL2 

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VANGL2
    8/91 QIAGEN miScript miRNA 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 plasmid: VANGL2 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 VANGL2 (see all 7)
    OriGene shRNA RFP: VANGL2
    OriGene siRNA: VANGL2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat VANGL2
    Sirion Biotech Custom design and validation of potent shRNA sequences against VANGL2 

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for VANGL2
    Sirion Biotech Customized adenovirus for overexpression of VANGL2 
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    Clone
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    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VANGL2


    Pathways & Interactions
    for VANGL2 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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Wnt Signaling Pathway
    		Wnt signaling pathway0.30
    		Wnt Signaling Pathway NetPath0.22

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for VANGL2 
        Wnt Signaling Pathway NetPath


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


    VANGL2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for VANGL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/15 Interacting proteins for VANGL2 (Q9ULK53 ENSP000003570404) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DVL1O146403, ENSP000003681694I2D: score=1 STRING: ENSP00000368169
    DVL3Q929973, ENSP000003160544I2D: score=2 STRING: ENSP00000316054
    DVL2O146413, ENSP000000053404I2D: score=3 STRING: ENSP00000005340
    YWHAGP619813, ENSP000003063304I2D: score=1 STRING: ENSP00000306330
    SFRP2Q96HF13, ENSP000002740634I2D: score=1 STRING: ENSP00000274063
    About this table

    Gene Ontology (GO): 5/34 biological process terms (GO ID links to tree view) (see all 34):    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--

    VANGL2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for VANGL2 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for VANGL2
    Search CenterWatch for drugs/clinical trials and news about VANGL2 / VANG2 

    Transcripts
    for VANGL2 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, Sirion Biotech, 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 VANGL2 gene: 
    NM_020335.2  

    Unigene Cluster for VANGL2:

    Vang-like 2 (van gogh, Drosophila)
    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
    Products:             		 OriGene 3'-UTR Clone: VANGL2
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat VANGL2
    8/91 QIAGEN miScript miRNA 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 plasmid: VANGL2 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 VANGL2 (see all 7)
    OriGene shRNA RFP: VANGL2
    OriGene siRNA: VANGL2
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    Sirion Biotech Custom design and validation of potent shRNA sequences against VANGL2 
    Clone
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    GenScript: all cDNA clones in your preferred vector: VANGL2 (NM_020335)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VANGL2 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat VANGL2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat VANGL2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat VANGL2

    Additional cDNA sequence: 

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

    4 DOTS entries:

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

    24/86 AceView cDNA sequences (see all 86):

    AA235772 BU162175 AW662267 BM722069 BX284039 BM717001 AI906686 CB243283 
    T31186 AA922668 AI697392 BX505270 CA503116 AI401401 AB033041 BE674679 
    BM678651 AA298737 CA440197 AA454663 AL137558 AI654245 AI934671 AI146407 

    GeneLoc Exon Structure


    Expression
    for VANGL2 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

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

    VANGL2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See VANGL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for VANGL2

    SOURCE GeneReport for Unigene cluster: Hs.99477
        SABiosciences Expression via Pathway-Focused PCR Arrays including VANGL2: 
              Primary Cilia in human mouse rat
              WNT Signaling Pathway in human mouse rat
              Stem Cell Signaling in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for VANGL2 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 animals.

    Orthologs for VANGL2 gene from 7/20 species (see all 20)    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_424509.3  XP_424509.3 
    lizard
    (Anolis carolinensis)    		 Reptilia VANGL26
    		 --
    		 92(a)
    		 1 ↔ 1
    		 GL344741.1(43218-50167)
    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
    for VANGL2 gene

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

    VANGL2 for paralogs           About GeneDecksing



    Genomic Variants
    for VANGL2 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

    10/508 NCBI SNPs in VANGL2 are shown (see all 508)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1457172861,2
    		Cother133787575(+) CTGCTC/TGTGGT 2 L syn11Minor allele frequency- T:0.00NA 4552
    rs168319401,2
    		C,F--131724619(+) TCAGTG/AGGGCC 1 -- us2k14Minor allele frequency- A:0.04NA WA 256
    rs741231901,2
    		C--131724667(+) CCTTTT/ATCCAG 1 -- us2k12Minor allele frequency- A:0.15WA 120
    rs785892291,2
    		C,F--131725442(+) ACGGCA/CATAAC 1 -- us2k11Minor allele frequency- C:0.03WA 118
    rs768343051,2
    		F--131726268(+) GCCCAC/TCGTTC 1 -- us2k11Minor allele frequency- T:0.09WA 118
    rs127438311,2
    		C,H--131726672(+) AGACTC/TAAGAA 1 -- ut51 ese35Minor allele frequency- T:0.00NS EA NA 412
    rs1132440881,2
    		--131729255(+) ATATTA/GTGCTG 1 -- int12Minor allele frequency- G:0.06CSA WA 120
    rs168319491,2
    		C,F,H--131729318(+) CATTTC/TTGAAA 1 -- int19Minor allele frequency- T:0.06NA NS EA WA 676
    rs741231911,2
    		C,F--131732113(+) NNNNGC/TGACTC 1 -- int16Minor allele frequency- T:0.18WA NA CSA 246
    rs168319531,2
    		C,F,H--131732174(+) CTCTTC/GCTTTT 1 -- int1 trp329Minor allele frequency- G:0.10NA NS EA WA CSA 2880

    HapMap Linkage Disequilibrium report for VANGL2 (160370364 - 160398468 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for VANGL2: --
    Human Gene Mutation Database (HGMD): VANGL2

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for VANGL2 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
    VANGL2 for disorders           About GeneDecksing

    OMIM gene information: 600533    OMIM disorders: --

    UniProtKB/Swiss-Prot: VANG2_HUMAN, Q9ULK5
  • Defects in VANGL2 are a cause of neural tube defects (NTD) [MIM:182940]. NTD are 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

    11 diseases for VANGL2:    About MalaCards
    double outlet right ventricle    strabismus    neural tube defect    craniorachischisis
    pre-eclampsia    spina bifida    tetralogy of fallot    strabismus 1
    hyperopia    brachydactyly    eclampsia

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

    3 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: VANGL2 (1 document)

    Export disorders for VANGL2 gene to outside databases

    Publications
    for VANGL2 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 VANGL2 gene, integrated from 9 sources (see all 22):
    (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 Lei Y.P....Wang H.Y. (2010)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    3. 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. (2004)
    4. 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. (2001)
    5. 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. (1999)
    6. Mutation analysis of the Vangl2 coding region revealed no common cause for Tetralogy of Fallot. (PubMed id 18034999)1, 9 Erdal E....Acikel U. (2007)
    7. Contribution of VANGL2 mutations to isolated neural t ube defects. (PubMed id 20738329)1 Kibar Z....Gros P. (2011)
    8. Loss of membrane targeting of Vangl proteins causes n eural tube defects. (PubMed id 21142127)1 Iliescu A....Gros P. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. The planar cell polarity protein Van Gogh-Like 2 regu lates tumor cell migration and matrix metalloproteinase-dependent invasion. (PubMed id 19577357)1 Cantrell V.A. and Jessen J.R. (2010)

    External Searches for VANGL2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing VANGL2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57216 HGNC: 15511 AceView: VANGL2 Ensembl:ENSG00000162738 euGenes: HUgn57216
    ECgene: VANGL2 Kegg: 57216 H-InvDB: VANGL2

    Other Databases showing VANGL2 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1215

    Specialized Databases showing VANGL2 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 VANGL2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for VANGL2 gene

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



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