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VANGL2 Gene

protein-coding   GIFtS: 56

GC01P158636
vang-like 2 (van gogh, Drosophila)
(Previous names: vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (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
KIAA1215 1, 2, 3
LPP1 1, 2
LTAP 1, 2, 5
MGC119403 1, 2
MGC119404 1, 2
OTTHUMP00000031861 2
STB1 1, 2, 3
STBM 1, 2
STBM1 1, 2
strabismus 2
Descriptions
Loop-tail protein 1 homolog 3
Strabismus 1 3
Van Gogh-like protein 2 3
loop-tail-associated protein 2
vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2
(Drosophila) 1
vang, van gogh-like 2 2
vang-like 2 2
vang-like 2 (van gogh, Drosophila) 2
External Ids
HGNC: 155111
Entrez Gene: 572162
UniProtKB: Q9ULK53
Ensembl: ENSG000001627387
Search outside databases for aliases for VANGL2 gene

Previous GC identifers: GC01P158177 GC01P156117 GC01P157163 GC01P157585 GC01P157587 GC01P157183

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for VANGL2:
The VANGL2 gene encodes a homolog of Drosophila 'strabismus/Van Gogh' (Stbm/Vang), a
component of the frizzled-dishevelled tissue polarity pathway (Kibar et al., 2001 [PubMed
11431695]).[supplied by OMIM]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the VANGL2 gene  

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)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P158636:     (about GC identifiers)

Start:
158,636,988 bp from pter
End:
158,665,088 bp from pter
Size:
28,101 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000001.9  NT_004487.18  
(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)
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)
Secondary accessions: Q5T212

REFSEQ proteins: NP_065068.1  

ENSEMBL proteins: 
ENSP00000357040 


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 (VANGL2 )
Human Recombinant Proteins from Abnova (VANGL2)
                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 ISS--
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Antibodies for VANGL2: 
Browse Antibodies Central at Invitrogen
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Browse Antibodies at Sigma-Aldrich
R&D Systems Antibodies for VANGL2 (Vang-like Protein 2/VANGL2)
Antibodies from Abcam (VANGL2 ), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (VANGL2)
Novus Biologicals Antibody for VANGL2

Assays for VANGL2: 
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  VANGL2 for the domains selected above  
About GeneDecksing

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

(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 (VANGL2)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_020335

              Applied Biosystems Silencer® siRNAs for VANGL2

              Sigma-Aldrich siRNA and siRNA Panels for VANGL2  
                     Sigma-Aldrich shRNA for VANGL2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for VANGL2
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_020335
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_020335
                                 untagged cDNA clone in CMV expression vector: NM_020335 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_020335

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)

13 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Vangl2):

behavior/neurologicaldigestive/alimentaryembryogenesisgrowth/size
hearing/vestibular/earlethality-prenatal/perinatallimbs/digits/tailnervous systemnormal
renal/urinary systemreproductive systemskeleton

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005515 protein binding ISS--
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 VANGL2):
 hsa04310 Wnt signaling pathway

   GeneDecks  VANGL2 for the pathways selected above  
About GeneDecksing
 Gene Network CentralTM Interacting Genes and Proteins Network for  VANGL2 


5/26 Interacting proteins for VANGL2 (ENSP000003570403) via UniProtKB, MINT, and/or STRING (see all 26 )
InteractantInteraction Details
GeneCardExternal ID(s)
DVL1L1ENSP000003681663STRING (score=.988)
DVL3ENSP000003160543STRING (score=.977)
MAGI3ENSP000003046043STRING (score=.977)
DVL2ENSP000000053403STRING (score=.976)
WNT5AENSP000002646343STRING (score=.965)
About this table

5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

GO IDQualified GO termEvidencePubMed IDs
GO:0001736 establishment of planar polarity ISS--
GO:0001843 neural tube closure ISS--
GO:0001947 heart looping ISS--
GO:0007275 multicellular organismal development IEA--
GO:0035058 sensory cilium assembly ISS--
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 VANGL2

(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 (VANGL2)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_020335

              Sigma-Aldrich siRNA and siRNA Panels for VANGL2  
                     Sigma-Aldrich shRNA for VANGL2  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_020335  

REFSEQ mRNAs for VANGL2 gene: 

NM_020335.1   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_020335  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_020335
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_020335
                                 untagged cDNA clone in CMV expression vector: NM_020335 

Additional cDNA sequence: 

AB033041.1 AK290981.1 AL137558.1 BC103919.2 BC103920.2 

4 DOTS entries:

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

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

BE674679 AI401401 BX505270 CA503116 BM722069 AW662267 BM717001 AB033041 
AA298737 AA235772 AI697392 BM678651 CB243283 BX284039 BU162175 T31186 
AI906686 AA922668 BX337586 AU253548 AI146407 CA440197 AI934671 T07701 

highest scoring ESTs for VANGL2:

AI937112 AA235772 AA235773 AA298737 AA302981 AA350988 AA378260 AA379851 AA379863 AA454663 

Unigene Cluster for VANGL2:

Vang-like 2 (van gogh, Drosophila)
Hs.99477  [show with all ESTs]
Unigene Representative Sequence: NM_020335


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000368061  
(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

VANGL2 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for VANGL2

1 / 2 / 3

3 probe-sets matching VANGL2 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
90296_at2, 3 U95-E 1 1.00 1.00 1.00 1.00 AI937112 1.00 1.00 1.00 1

226029_at2, 3 U133-B 1 1.00 1.00 -- -- AB033041 0.80 1.00 0.91 1

226029_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  VANGL2 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: TAGAAAATTG

SOURCE GeneReport for Unigene cluster: Hs.99477
(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 VANGL2 gene from 5/10 species (see all 10 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
cow
(Bos taurus)
VANGL21   -- vang-like 2 (van gogh, Drosophila) 93.99(n)
99.81(a)
520544  XM_598791.3  XP_598791.3 
rat
(Rattus norvegicus)
Vangl21   -- vang-like 2 (van gogh, Drosophila) 89.89(n)
99.42(a)
289229  XM_222896.4  XP_222896.3 
mouse
(Mus musculus)
Vangl21, 5 1 (93.40 cM)5
vang-like 2 (van gogh, Drosophila)1, 5 89.89(n)1
99.42(a)1
938401  NM_033509.31  NP_277044.11 
 AF3658755  AK0460365  (see all 12)
chicken
(Gallus gallus)
VANGL21   -- vang-like 2 (van gogh, Drosophila) 85.15(n)
91.7(a)
426903  XM_424509.2  XP_424509.2 
zebrafish
(Danio rerio)
vangl22   -- vang-like 2 (van gogh, Drosophila) 78.27(n) 245949  AF428249.1 
About this table        Species with no ortholog for VANGL2

ENSEMBL Gene Tree for VANGL2
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for VANGL2 gene
VANGL12  

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


10/150 NCBI SNPs in VANGL2 are shown (see all 150 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 89)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 1 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs115829321,2
A,C,F,H158635996(+) GTGGGT/GTCACT 1 -- ng519Minor allele frequency- G:0.32NA EU EA WA 734
rs112653931,2
A,C,F,H158665466(+) TTCAGC/GGGATA 1 -- ng3116Minor allele frequency- N:0.00EU EA WA NA 1470
rs112653911,2
A,C,F,H158664643(+) TTCTCC/TTCCAT 1 -- ut31 ese3 trp37Minor allele frequency- T:0.04EU EA WA NA 558
rs13247391,2
C,F,H158663878(-) GGAGGA/CAAAAA 1 -- ut31 ese37Minor allele frequency- C:0.01NA PA EU EA WA 668
--
rs75233761,2
A,C,F158664296(+) CCCACC/TGTGCC 1 -- ut31 ese33Minor allele frequency- T:0.01NA 142
rs112653851,2
A,C158636443(+) GGTGGG/TGATGG 1 -- ng510--------
rs120443301,2
F,H158663430(+) AGTTCA/CCTTGT 1 -- ut31 ese34Minor allele frequency- C:0.01EU EA WA 414
rs37953371,2
F,H158662845(-) AGGGGA/GTGAGG 1 -- ut31 ese34Minor allele frequency- G:0.01EU EA WA 418
rs75494831,2
H158660601(+) ATGCAG/CAAGTA 1 H/Q mis1 ese34Minor allele frequency- C:0.00EU EA WA 414
rs127438311,2
H158637139(+) AGACTC/TAAGAA 1 -- ut51 ese34Minor allele frequency- T:0.00EU EA WA 410
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HapMap Linkage Disequilibrium images for VANGL2 (up to first 250kb)

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

OMIM: 600533

3 Novoseek disease relationships for VANGL2 gene

Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
craniorachischisis 92.44 2 11709546 (1)
neural tube defects 62.43 1 11709546 (1)
strabismus 59.53 2 11709546 (1)
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(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

10/13 PubMed articles for VANGL2 gene (see all 13 ):
(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: 57216 HGNC: 15511 AceView: VANGL2 Ensembl:ENSG00000162738 euGenes: HUgn57216
ECgene: VANGL2 H-InvDB: VANGL2
(According to HUGE)
About This Section

HUGE: KIAA1215
(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 VANGL2:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



  Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
  Invitrogen Antibodies  Invitrogen Assays
  Invitrogen Clones  Invitrogen Q-PCR Products
  Invitrogen Human Recombinant Kinases  Invitrogen Custom Antibody and Peptide Service
  Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for VANGL2-related products

 Millipore Custom Antibody & Bulk Services
 Millipore Preclinical / Clinical Development Services
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 Predesigned and custom siRNAs for VANGL2 Browse antibodies at Sigma-Aldrich
 Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
 Lentivirus-delivered shRNAs for VANGL2 Browse small molecules at Sigma-Aldrich
 "Your Favorite Gene" Pathwaysfeedback


  
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 Antibodies for VANGL2

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