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VANGL1 Gene

protein-coding   GIFtS: 60

GC01P115986
vang-like 1 (van gogh, Drosophila)
(Previous names: vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
LPP2 2, 3
MGC5338 2
OTTHUMP00000013751 2
OTTHUMP00000013752 2
STB2 1, 2, 3
STBM2 2, 5
Descriptions
Loop-tail protein 2 homolog 3
Strabismus 2 3
Van Gogh-like protein 1 3
loop-tail protein 2 2
van gogh-like 1 2
vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 2
vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1
(Drosophila) 1
vang-like 1 2
vang-like 1 (van gogh, Drosophila) 2
External Ids
HGNC: 155121
Entrez Gene: 818392
UniProtKB: Q8TAA93
Ensembl: ENSG000001732187
Search outside databases for aliases for VANGL1 gene

Previous GC identifers: GC01P116607 GC01P115067 GC01P115332 GC01P115531 GC01P115896

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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  --
(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the VANGL1 gene  

Entrez Gene cytogenetic band: 1p11-p13.1   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)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P115986:     (about GC identifiers)

Start:
115,986,097 bp from pter
End:
116,042,368 bp from pter
Size:
56,272 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000001.9  NT_019273.18  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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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: 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)
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: Q86WG8 Q8N559
Alternative splicing: 2 isoforms:  Q8TAA9-1   Q8TAA9-2   

Post-translational modifications:

  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_620409.1  

    ENSEMBL proteins: 
    ENSP00000347672 ENSP00000358523 ENSP00000310800 ENSP00000358522 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (VANGL1)
    Human Recombinant Proteins from Abnova (VANGL1)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for VANGL1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for VANGL1
    R&D Systems Antibodies for VANGL1 (Vang-like Protein 1/VANGL1)
    Antibodies from Abcam (VANGL1), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (VANGL1)
    Novus Biologicals Antibodies for VANGL1

    Assays for VANGL1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    1 InterPro domain/family:
     IPR009539 Strabismus


       GeneDecks  VANGL1 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q8TAA9

    ProtoNet protein and cluster: Q8TAA9

    1 Blocks protein family: IPB009539 Strabismus

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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (VANGL1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_138959

                  Applied Biosystems Silencer® siRNAs for VANGL1

                  Sigma-Aldrich siRNA and siRNA Panels for VANGL1  
                         Sigma-Aldrich shRNA for VANGL1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for VANGL1
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_138959
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_138959
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_138959 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_138959

    5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Vangl1):

    hearing/vestibular/earlethality-prenatal/perinatallimbs/digits/tailnervous system

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI15205336
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Kegg Pathway  (Kegg details for VANGL1):
     hsa04310 Wnt signaling pathway

       GeneDecks  VANGL1 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  VANGL1 


    5/45 Interacting proteins for VANGL1 (Q8TAA91 ENSP000003585223) via UniProtKB, MINT, and/or STRING (see all 45 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CD82P277011, ENSP000002271553EBI-682393, EBI-682379 STRING (score=.783)
    DVL1L1ENSP000003681663STRING (score=.982)
    DVL2ENSP000000053403STRING (score=.982)
    DVL3ENSP000003160543STRING (score=.982)
    PRICKLE2ENSP000002959023STRING (score=.946)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007275 multicellular organismal development IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for VANGL1

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (VANGL1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_138959

                  Sigma-Aldrich siRNA and siRNA Panels for VANGL1  
                         Sigma-Aldrich shRNA for VANGL1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_138959  

    REFSEQ mRNAs for VANGL1 gene: 

    NM_138959.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_138959  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_138959
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_138959
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_138959 

    Additional cDNA sequence: 

    AB057596.1 AB075805.1 AF481859.1 AK312087.1 BC000907.2 BC032773.1 BC065272.1 BC082967.1 
    CR609810.1 

    7 DOTS entries:

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

    24/140 AceView cDNA sequences (see all 140 ):

    AW294459 BQ687241 BE670545 AA463627 NM_138959 AF481859 AB075805 AI026622 
    BF968983 AI805666 AI468303 AW675002 AA911207 BU161285 BF726413 CA419348 
    BC065272 AW452302 CR609810 AA989033 AW469963 BQ576155 AW674666 AA470465 

    highest scoring ESTs for VANGL1:

    AA311661 AA603110 H27345 AA311917 AA336623 AA336635 AA336636 AA347877 AA463627 AA789332 

    Unigene Cluster for VANGL1:

    Vang-like 1 (van gogh, Drosophila)
    Hs.515130  [show with all ESTs]
    Unigene Representative Sequence: NM_138959


    GeneLoc Exon Structure

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

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

    About this scheme

    ECgene alternative splicing isoforms for VANGL1

    4 Ensembl transcripts including schematic representations:
    ENST00000355485  ENST00000369510  ENST00000310260  ENST00000369509  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    VANGL1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for VANGL1

    1 / 2 / 3

    14 probe-sets matching VANGL1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    76954_at2, 3 U95-E 1 1.00 1.00 0.92 0.90 R85437 0.40 1.00 0.76 1
    46136_at2, 3 U95-B 1 1.00 1.00 0.74 1.11 W68637 0.60 1.00 0.82 1

    50855_at2, 3 U95-B 1 1.00 1.00 0.77 0.56 AA789332 0.80 1.00 0.91 1

    56095_at2, 3 U95-B 1 1.00 1.00 0.82 0.94 AA603110 1.00 1.00 1.00 1

    80582_at2, 3 U95-D 1 0.94 1.00 -0.02 1.53 AA311661 1.00 1.00 1.00 1

    80950_r_at2, 3 U95-E 1 0.88 1.00 0.92 1.01 H27345 1.00 1.00 1.00 1

    229492_at2, 3 U133-B 1 1.00 1.00 -- -- R85437 0.40 1.00 0.76 1

    219330_at2, 3 U133-A 1 1.00 1.00 -- -- NM_024062 0.20 1.00 0.72 1

    229134_at2, 3 U133-B 1 1.00 1.00 -- -- BF509230 0.40 1.00 0.76 1

    229997_at2, 3 U133-B 1 0.82 1.00 -- -- AA789332 0.80 1.00 0.91 1

    229492_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    219330_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    229134_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    229997_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --
    GeneDecks  VANGL1 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: ACCCCCAAGG

    SOURCE GeneReport for Unigene cluster: Hs.515130

    UniProtKB/Swiss-Prot: VANG1_HUMAN, Q8TAA9
    Tissue specificity: Ubiquitous (PubMed:11956595). Expressed specifically in testis and ovary
    (PubMed:12011995)

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for VANGL1 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    VANGL11   -- vang-like 1 (van gogh, Drosophila) 90.39(n)
    96.56(a)
    483133  XM_852285.1  XP_857378.1 
    chimpanzee
    (Pan troglodytes)
    VANGL11   -- vang-like 1 (van gogh, Drosophila) 99.43(n)
    99.62(a)
    457149  XM_001148705.1  XP_001148705.1 
    cow
    (Bos taurus)
    VANGL11   -- vang-like 1 (van gogh, Drosophila) 90.46(n)
    96.18(a)
    513056  XM_590678.3  XP_590678.3 
    rat
    (Rattus norvegicus)
    Vangl11   -- vang-like 1 (van gogh, Drosophila) 88.74(n)
    95.61(a)
    690366  XM_001072392.1  XP_001072392.1 
    mouse
    (Mus musculus)
    Vangl11, 5 35
    vang-like 1 (van gogh, Drosophila)1, 5 88.61(n)1
    95.23(a)1
    2296581  NM_177545.31  NP_808213.11 
     AA3878075  AF4818605  (see all 12)
    About this table        Species with no ortholog for VANGL1

    ENSEMBL Gene Tree for VANGL1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for VANGL1 gene
    VANGL22  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/412 NCBI SNPs in VANGL1 are shown (see all 412 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 192)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs32049551,2
    A,C,F,H,O116036800(+) AAACAC/TAGCTG 1 -- ut31 ese312Minor allele frequency- T:0.28MN NA EA EU WA 1096
    rs43487231,2
    A,C,F,H116041156(+) TGTGCT/GTATCT 1 -- ut3111Minor allele frequency- G:0.26NA EU EA WA 980
    rs121211581,2
    A,C,F,H116037874(+) TTACTG/TTTGCA 1 -- ut3116Minor allele frequency- N:0.00EA NA EU WA 1472
    rs104941791,2
    A,C,F,H116040891(+) AAAGAG/ACAGAT 1 -- ut3112Minor allele frequency- A:0.40NS NA EU EA WA 664
    rs48394721,2
    A,C,F,H116039019(+) TGTCAT/ATGTGT 1 -- ut3111Minor allele frequency- A:0.29NA EU EA WA 978
    rs64286771,2
    A,C,F,H116041549(+) TTTACG/AGTAGG 1 -- ut317Minor allele frequency- A:0.26NA EU EA WA 560
    rs66684001,2
    A,C,F,H116042444(+) ACTCTC/TGCATA 1 -- ng316Minor allele frequency- T:0.43NA EA WA 438
    rs108019331,2
    A,C,F,H116041274(+) GGACCA/GGAGAC 1 -- ut317Minor allele frequency- G:0.46NA EU EA WA 516
    rs109232041,2
    A,C,F,H116038546(+) GCCTGG/TGGCTT 1 -- ut314Minor allele frequency- T:0.26EU EA WA 408
    rs29994591,2
    C,F,H,O115985165(+) AGAAAA/GGTGCA 1 -- ng514Minor allele frequency- G:0.23EU EA WA 408
    About this table

    HapMap Linkage Disequilibrium images for VANGL1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 610132   disorders: 600145  182940  

    UniProtKB/Swiss-Prot: VANG1_HUMAN, Q8TAA9

  • Defects in VANGL1 are a cause of neural tube defects (NTD) [MIM:182940]. NTD are
    congenital malformations. The most common forms of NTD are described as open defects (including
    anencephaly and myelomeningocele, or spina bifida), which result from the failure of fusion in the
    cranial and spinal region of the neural tube, respectively. Other open dysraphisms (including
    myeloschisis, hemimyelomeningocele, and hemimyelocele) are sometimes associated with a Chiari type
    2 malformation. A number of skin-covered (closed) NTD are categorized clinically depending on the
    presence of a subcutaneous mass (lipomyeloschisis, lipomyelomeningocele, meningocele, and
    myelocystocele) or the absence of such a mass (complex dysraphic states, including split cord
    malformations, dermal sinus, caudal regression, and segmental spinal dysgenesis)
  • Defects in VANGL1 are a cause of sacral defect with anterior meningocele (SDAM)
    [MIM:600145]. SDAM is a 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
  • Human Gene Mutation Database: VANGL1
    Human Genome Epidemiology Navigator: VANGL1 (1 document)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/15 PubMed articles for VANGL1 gene (see all 15 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 81839 HGNC: 15512 AceView: VANGL1 Ensembl:ENSG00000173218 euGenes: HUgn81839
    ECgene: VANGL1 H-InvDB: VANGL1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

      --
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for VANGL1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for VANGL1 Antibodies for VANGL1
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