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VANGL1 Gene

protein-coding   GIFtS: 62
GCID: GC01P116184

VANGL Planar Cell Polarity Protein 1

(Previous names: vang (van gogh, Drosophila)-like 1, vang, van gogh-like...)
  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)
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Aliases
VANGL Planar Cell Polarity Protein 11 2     STB22 3
Vang-Like 1 (Van Gogh, Drosophila)1 2     STBM22 5
Loop-Tail Protein 2 Homolog2 3     Vang (Van Gogh, Drosophila)-Like 1, Vang, Van Gogh-Like 1 (Drosophila)1
Strabismus 22 3     KITENIN2
Van Gogh-Like Protein 12 3     KAI1 C-Terminal Interacting Tetraspanin2
LPP22 3     Vang-Like Protein 12

External Ids:    HGNC: 155121   Entrez Gene: 818392   Ensembl: ENSG000001732187   OMIM: 6101325   UniProtKB: Q8TAA93   

Export aliases for VANGL1 gene to outside databases

Previous GC identifers: GC01P116607 GC01P115067 GC01P115332 GC01P115531 GC01P115896 GC01P115986 GC01P114043


(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 VANGL1 Gene:
This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal
trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural
tube defects. Alternate splicing results in multiple transcript variants. (provided by RefSeq, Feb 2010)

GeneCards Summary for VANGL1 Gene:
VANGL1 (VANGL planar cell polarity protein 1) is a protein-coding gene. Diseases associated with VANGL1 include meningocele, and caudal regression syndrome. An important paralog of this gene is VANGL2.




(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:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the VANGL1 gene promoter:
         c-Fos   AP-1   Pax-5   JunB   Fra-1   FosB   POU3F2   E4BP4   Cdc5   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidVANGL1 promoter sequence
   Search Chromatin IP Primers for VANGL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat VANGL1


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

Entrez Gene cytogenetic band: 1p13.1   Ensembl cytogenetic band:  1p13.1   HGNC cytogenetic band: 1p13.1

VANGL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
VANGL1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P116184:  view genomic region     (about GC identifiers)

Start:
116,184,574 bp from pter      End:
116,240,845 bp from pter
Size:
56,272 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, 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: VANG1_HUMAN, Q8TAA9 (See protein sequence)
Recommended Name: Vang-like protein 1  
Size: 524 amino acids; 59975 Da
Subunit: Heterodimer with VANGL2. 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 (By similarity)
Sequence caution: Sequence=AAH32773.1; Type=Erroneous initiation;
Secondary accessions: Q5T1D3 Q5T1D4 Q86WG8 Q8N559
Alternative splicing: 2 isoforms:  Q8TAA9-1   Q8TAA9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for VANGL1: NX_Q8TAA9

Explore proteomics data for VANGL1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys299, Lys310, Lys382
  • Modification sites at PhosphoSitePlus

  • See VANGL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001165882.1  NP_001165883.1  NP_620409.1  

    ENSEMBL proteins: 
     ENSP00000358523   ENSP00000310800   ENSP00000358522   ENSP00000347672  

    VANGL1 Human Recombinant Protein Products:

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    Novus Biologicals VANGL1 Proteins
    Novus Biologicals VANGL1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for VANGL1

    VANGL1 Antibody Products:

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    Abcam antibodies for VANGL1
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    ThermoFisher Antibodies for VANGL1
    LSBio Antibodies in human, mouse, rat for VANGL1

    VANGL1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for VANGL1
    Cloud-Clone Corp. CLIAs for VANGL1


    (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 Q8TAA9

    ProtoNet protein and cluster: Q8TAA9

    1 Blocks protein domain: IPB009539 Strabismus

    UniProtKB/Swiss-Prot: VANG1_HUMAN, Q8TAA9
    Similarity: Belongs to the Vang family


    VANGL1 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.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15205336
         
    VANGL1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for VANGL1:
     Increased HPV18 LCR reporter a  Synthetic lethal with c-Myc af 

         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Vangl1):
     cardiovascular system  embryogenesis  growth/size/body  hearing/vestibular/ear  limbs/digits/tail 
     mortality/aging  nervous system  normal  reproductive system  respiratory system 

    VANGL1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for VANGL1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for VANGL1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for VANGL1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for VANGL1

    miRNA
    Products:
        
    miRTarBase miRNAs that target VANGL1:
    hsa-mir-192-5p (MIRT026871), hsa-mir-124-3p (MIRT023046), hsa-mir-324-5p (MIRT043138), hsa-mir-615-3p (MIRT040383), hsa-mir-155-5p (MIRT020963), hsa-mir-365a-3p (MIRT044026), hsa-mir-98-5p (MIRT027805), hsa-mir-26b-5p (MIRT030158)

    Block miRNA regulation of human, mouse, rat VANGL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VANGL1 (see all 129):
    hsa-miR-124* hsa-miR-199a-3p hsa-miR-106a hsa-miR-1245 hsa-miR-1260b hsa-miR-128 hsa-miR-3921 hsa-miR-519a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for VANGL1
    Predesigned siRNA for gene silencing in human, mouse, rat VANGL1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for VANGL1

    Clone
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    OriGene clones in human, mouse for VANGL1 (see all 17)
    OriGene ORF clones in mouse, rat for VANGL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): VANGL1 (NM_001172412)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VANGL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VANGL1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for VANGL1
    Browse ESI BIO Cell Lines and PureStem Progenitors for VANGL1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VANGL1


    (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
    VANG1_HUMAN, Q8TAA9: Cell membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytoskeleton1
    cytosol1
    endoplasmic reticulum1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--

    VANGL1 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).
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    SuperPaths for VANGL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for VANGL1):
        Wnt signaling pathway


    VANGL1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for VANGL1
    Interactions:

        GeneGlobe Interaction Network for VANGL1

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

    Selected Interacting proteins for VANGL1 (Q8TAA91, 3 ENSP000003108004) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CD82P277011, 3, ENSP000002271554EBI-682393,EBI-682379 I2D: score=2 STRING: ENSP00000227155
    KBTBD7Q8WVZ93, ENSP000003687974I2D: score=2 STRING: ENSP00000368797
    DLG1Q129593, ENSP000003457314I2D: score=1 STRING: ENSP00000345731
    FZD1Q9UP383, ENSP000002879344I2D: score=1 STRING: ENSP00000287934
    INTUQ9ULD63, ENSP000003340034I2D: score=1 STRING: ENSP00000334003
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275multicellular organismal development IEA--

    VANGL1 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)
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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 VANGL1 (VANG1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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 )
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    REFSEQ mRNAs for VANGL1 gene (3 alternative transcripts): 
    NM_001172411.1  NM_001172412.1  NM_138959.2  

    Unigene Cluster for VANGL1:

    VANGL planar cell polarity protein 1
    Hs.515130  [show with all ESTs]
    Unigene Representative Sequence: NM_138959
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369510 ENST00000310260 ENST00000369509 ENST00000478369 ENST00000474344
    ENST00000355485(uc009wgy.1 uc001efv.1 uc021ose.1)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat VANGL1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate VANGL1 (see all 129):
    hsa-miR-124* hsa-miR-199a-3p hsa-miR-106a hsa-miR-1245 hsa-miR-1260b hsa-miR-128 hsa-miR-3921 hsa-miR-519a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for VANGL1
    Predesigned siRNA for gene silencing in human, mouse, rat VANGL1
    Clone
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    OriGene clones in human, mouse for VANGL1 (see all 17)
    OriGene ORF clones in mouse, rat for VANGL1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): VANGL1 (NM_001172412)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for VANGL1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat VANGL1
    Primer
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    OriGene qPCR primer pairs and template standards for VANGL1
    OriGene qSTAR qPCR primer pairs in human, mouse for VANGL1
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat VANGL1
      QuantiTect SYBR Green Assays in human, mouse, rat VANGL1
      QuantiFast Probe-based Assays in human, mouse, rat VANGL1

    Additional mRNA sequence: 

    AB057596.1 AB075805.1 AF481859.1 AK312087.1 BC000907.2 BC032773.1 BC065272.1 BC082967.1 

    7 DOTS entries:

    DT.97839634  DT.100022452  DT.91816078  DT.121455401  DT.410385  DT.109448  DT.86846279 

    Selected AceView cDNA sequences (see all 140):

    AW294459 BQ576155 AA682679 AI874246 AF481859 AA463627 AI805666 AA989033 
    BE670545 BU617790 AW674666 BU161285 AI468303 BF515852 BQ026915 AA312696 
    AA911207 BC065272 AW675002 BF726413 AW469963 AI802003 CR609810 NM_138959 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for VANGL1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:              -                             -     -                           
    SP2:              -                             -     -                           
    SP3:                                            -     -                           
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for VANGL1

    (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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    VANGL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCCCCAAGG
    VANGL1 Expression
    About this image


    VANGL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Ovary (Reproductive System)
             Oviduct
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Neural Tube (Nervous System)
             Mesencephalic Ventricular Zone
    VANGL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    VANGL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515130

    UniProtKB/Swiss-Prot: VANG1_HUMAN, Q8TAA9
    Tissue specificity: According to PubMed:11956595, ubiquitously expressed. According to PubMed:12011995, expressed
    specifically in testis and ovary

        Custom PCR Arrays for VANGL1
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    QuantiTect SYBR Green Assays in human, mouse, rat VANGL1
    QuantiFast Probe-based Assays in human, mouse, rat VANGL1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for VANGL1

    (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 VANGL1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Vangl11 , 5 vang-like 1 (van gogh, Drosophila)1, 5 88.74(n)1
    95.42(a)1
      3 (44.30 cM)5
    2296581  NM_177545.51  NP_808213.21 
     1021567015 
    chicken
    (Gallus gallus)
    Aves VANGL11 vang-like 1 (van gogh, Drosophila) 80.59(n)
    88.51(a)
      418337  XM_004938190.1  XP_004938247.1 
    lizard
    (Anolis carolinensis)
    Reptilia VANGL16
    VANGL planar cell polarity protein 1
    81(a)
    1 ↔ 1
    2(82768703-82822065)
    zebrafish
    (Danio rerio)
    Actinopterygii AY279079.12   -- 75.07(n)    AY279079.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Vang1 , 3 establishment and/or maintenance of
    cell polarity3
    Van Gogh1
    47(a)3
    53.93(n)1
    49(a)1
      359221  NM_001273890.11  NP_001260819.11 
    worm
    (Caenorhabditis elegans)
    Secernentea B0410.2a3
    vang-11
    vang-11 34(a)
    (best of 2)3
    46.26(n)1
    36.65(a)1
      X(2921174-2925603)3
    1805791  NM_076099.31  NP_508500.11 


    ENSEMBL Gene Tree for VANGL1 (if available)
    TreeFam Gene Tree for VANGL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for VANGL1 gene
    VANGL22  
    1 SIMAP similar gene for VANGL1 using alignment to 2 protein entries:     VANG1_HUMAN (see all proteins):
    VANGL2

    VANGL1 for paralogs           About GeneDecksing



    (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 VANGL1 (see all 1326)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0352104
    Neural tube defects (NTD)4--see VAR_0352102 R Q mis40--------
    VAR_0352094
    Sacral defect with anterior meningocele (SDAM)4--see VAR_0352092 V I mis40--------
    VAR_0352114
    Neural tube defects (NTD)4--see VAR_0352112 M T mis40--------
    rs1219182191,2
    Cpathogenic1116293670(+) CCAGCG/AAGCAG 6 /Q /R mis11Minor allele frequency- A:0.00NA 4550
    rs1219182201,2
    Cpathogenic1116295275(+) GGCCAC/TGATTG 6 T M mis10--------
    rs612596811,2
    C--116183908(+) TAGGG-/GGTGTGT 3 -- us2k10--------
    rs1162167031,2
    F--116184619(+) GCTCTG/CCCTCT 3 -- ut51 us2k11Minor allele frequency- C:0.08NA 120
    rs1916095921,2
    --116184621(+) TCTGCA/CTCTCC 3 -- ut51 us2k10--------
    rs106473241,2
    C--116189171(+) TTTTT-/T/TT  
            
    GCCAC
    3 -- int1 trp31CSA 2
    rs618002971,2
    C,F--116202142(+) TGTGTG/ATGTGT 3 -- int13Minor allele frequency- A:0.11NA CSA EA 124

    HapMap Linkage Disequilibrium report for VANGL1 (116184574 - 116240845 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for VANGL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2716596CNV Deletion23290073
    esv994532CNV Deletion20482838
    dgv69n67CNV Loss20364138
    esv27976CNV Loss19812545
    esv7661CNV Loss19470904
    nsv2509CNV Loss18451855
    nsv831115CNV Gain17160897
    nsv524619CNV Gain19592680
    essv18166CNV CNV17122850

    Human Gene Mutation Database (HGMD): VANGL1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing VANGL1
    DNA2.0 Custom Variant and Variant Library Synthesis for VANGL1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610132   
    OMIM disorders: 600145  182940  
    UniProtKB/Swiss-Prot: VANG1_HUMAN, Q8TAA9
  • 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
  • Sacral defect with anterior meningocele (SDAM) [MIM:600145]: Form of caudal dysgenesis. It is present at
    birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic
    constipation, or meningitis. Inheritance is autosomal dominant. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • Selected diseases for VANGL1 (see all 37):    
    About MalaCards
    meningocele    caudal regression syndrome    lipomyelomeningocele    vangl1-related neural tube defect
    sacral defect with anterior meningocele    strabismus    neural tube defects    thoracolumbosacral spina bifida cystica
    upper thoracic spina bifida aperta    cervical spina bifida cystica    cervicothoracic spina bifida aperta    lumbosacral spina bifida cystica
    cervical spina bifida aperta    upper thoracic spina bifida cystica    total spina bifida cystica    total spina bifida aperta
    lumbosacral spina bifida aperta    cervicothoracic spina bifida cystica    strabismus 1    thoracolumbosacral spina bifida aperta

    2 diseases from the University of Copenhagen DISEASES database for VANGL1:
    Hyperopia     Spina bifida

    VANGL1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): VANGL1
    Human Genome Epidemiology (HuGE) Navigator: VANGL1 (2 documents)

    Export disorders for VANGL1 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)
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    PubMed articles for VANGL1 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with VANGL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of Strabismus 2 (STB2). (PubMed id 11956595)1, 2, 3, 9 Katoh M. (Int. J. Oncol. 2002)
    2. Novel mutations in VANGL1 in neural tube defects. (PubMed id 19319979)1, 2, 4 Kibar Z.... Gros P. (Hum. Mutat. 2009)
    3. Isolation and characterization of a novel human gene, VANGL1, as a therapeutic target for hepatocellular carcinoma. (PubMed id 12011995)1, 2, 3 Yagyu R....Nakamura Y. (Int. J. Oncol. 2002)
    4. Mutations in VANGL1 associated with neural-tube defects. (PubMed id 17409324)1, 2 Kibar Z.... Gros P. (N. Engl. J. Med. 2007)
    5. Analysis of the planar cell polarity gene Vangl2 and its co-expressed paralogue Vangl1 in neural tube defect patients. (PubMed id 15952208)1, 2 Doudney K.... Stanier P. (Am. J. Med. Genet. A 2005)
    6. 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)
    7. The protein interaction landscape of the human CMGC kinase group. (PubMed id 23602568)1 Varjosalo M....Gstaiger M. (Cell Rep 2013)
    8. Expression of KITENIN and its association with tumor progression in oral squamous cell carcinoma. (PubMed id 22840317)1 Yoon T.M....Lim S.C. (Auris Nasus Larynx 2013)
    9. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    10. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 81839 HGNC: 15512 AceView: VANGL1 Ensembl:ENSG00000173218 euGenes: HUgn81839
    ECgene: VANGL1 Kegg: 81839 H-InvDB: VANGL1

    (According to HUGE)
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      --

    (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 VANGL1 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 VANGL1 gene:
    Search GeneIP for patents involving VANGL1

    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
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