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Aliases for VANGL2 Gene

Aliases for VANGL2 Gene

  • VANGL Planar Cell Polarity Protein 2 2 3
  • Vang-Like 2 (Van Gogh, Drosophila) 2 3
  • Loop-Tail-Associated Protein 2 3
  • Loop-Tail Protein 1 Homolog 3 4
  • Van Gogh-Like Protein 2 3 4
  • Strabismus 1 3 4
  • LTAP 3 6
  • STB1 3 4
  • Vang (Van Gogh, Drosophila)-Like 2, Vang, Van Gogh-Like 2 (Drosophila) 2
  • Vang-Like Protein 2 3
  • Van Gogh-Like 2 2
  • Strabismus 2
  • KIAA1215 4
  • STBM1 3
  • Vang 2
  • LPP1 3
  • STBM 3

External Ids for VANGL2 Gene

Previous GeneCards Identifiers for VANGL2 Gene

  • GC01P158177
  • GC01P156117
  • GC01P157163
  • GC01P157585
  • GC01P157587
  • GC01P157183
  • GC01P158636
  • GC01P131726

Summaries for VANGL2 Gene

Entrez Gene Summary for VANGL2 Gene

  • The protein encoded by this gene is a membrane protein involved in the regulation of planar cell polarity, especially in the stereociliary bundles of the cochlea. The encoded protein transmits directional signals to individual cells or groups of cells in epithelial sheets. This protein is also involved in the development of the neural plate. [provided by RefSeq, Sep 2011]

GeneCards Summary for VANGL2 Gene

VANGL2 (VANGL Planar Cell Polarity Protein 2) is a Protein Coding gene. Diseases associated with VANGL2 include vangl2-related neural tube defect and anencephaly. Among its related pathways are Signaling by GPCR and Wnt signaling pathway (KEGG). An important paralog of this gene is VANGL1.

UniProtKB/Swiss-Prot for VANGL2 Gene

  • 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. Required for cell surface localization of FZD3 and FZD6 in the inner ear (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VANGL2 Gene

Genomics for VANGL2 Gene

Regulatory Elements for VANGL2 Gene

Genomic Location for VANGL2 Gene

Start:
160,400,574 bp from pter
End:
160,428,678 bp from pter
Size:
28,105 bases
Orientation:
Plus strand

Genomic View for VANGL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for VANGL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VANGL2 Gene

Proteins for VANGL2 Gene

  • Protein details for VANGL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULK5-VANG2_HUMAN
    Recommended name:
    Vang-like protein 2
    Protein Accession:
    Q9ULK5
    Secondary Accessions:
    • D3DVE9
    • Q5T212

    Protein attributes for VANGL2 Gene

    Size:
    521 amino acids
    Molecular mass:
    59714 Da
    Quaternary structure:
    • Homodimer and heterodimer with VANGL1. Interacts through its C-terminal region with the N-terminal half of DVL1, DVL2 and DVL3. The PDZ domain of DVL1, DVL2 and DVL3 is required for the interaction. Also interacts with the PDZ domains of MAGI3, SCRIB/SCRB1 and FZD3 (By similarity).
    SequenceCaution:
    • Sequence=BAA86529.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for VANGL2 Gene

Proteomics data for VANGL2 Gene at MOPED

Post-translational modifications for VANGL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VANGL2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for VANGL2 Gene

Domains for VANGL2 Gene

Protein Domains for VANGL2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for VANGL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9ULK5

UniProtKB/Swiss-Prot:

VANG2_HUMAN :
  • Q9ULK5
Family:
  • Belongs to the Vang family.
genes like me logo Genes that share domains with VANGL2: view

No data available for Gene Families for VANGL2 Gene

Function for VANGL2 Gene

Molecular function for VANGL2 Gene

UniProtKB/Swiss-Prot 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. Required for cell surface localization of FZD3 and FZD6 in the inner ear (By similarity).

Gene Ontology (GO) - Molecular Function for VANGL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with VANGL2: view
genes like me logo Genes that share phenotypes with VANGL2: view

Animal Models for VANGL2 Gene

MGI Knock Outs for VANGL2:

miRNA for VANGL2 Gene

miRTarBase miRNAs that target VANGL2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for VANGL2 Gene

Localization for VANGL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VANGL2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VANGL2 Gene COMPARTMENTS Subcellular localization image for VANGL2 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 1
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for VANGL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA --
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction ISS --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with VANGL2: view

Pathways for VANGL2 Gene

genes like me logo Genes that share pathways with VANGL2: view

Pathways by source for VANGL2 Gene

Gene Ontology (GO) - Biological Process for VANGL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001736 establishment of planar polarity ISS --
GO:0001843 neural tube closure ISS --
GO:0001942 hair follicle development IEA --
GO:0001947 heart looping ISS --
GO:0003149 membranous septum morphogenesis IEA --
genes like me logo Genes that share ontologies with VANGL2: view

Transcripts for VANGL2 Gene

Unigene Clusters for VANGL2 Gene

VANGL planar cell polarity protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for VANGL2 Gene

No ASD Table

Relevant External Links for VANGL2 Gene

GeneLoc Exon Structure for
VANGL2
ECgene alternative splicing isoforms for
VANGL2

Expression for VANGL2 Gene

mRNA expression in normal human tissues for VANGL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for VANGL2 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for VANGL2 Gene

SOURCE GeneReport for Unigene cluster for VANGL2 Gene Hs.99477

genes like me logo Genes that share expressions with VANGL2: view

No data available for mRNA Expression by UniProt/SwissProt for VANGL2 Gene

Orthologs for VANGL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for VANGL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VANGL2 35
  • 98.54 (n)
  • 98.46 (a)
VANGL2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia VANGL2 35
  • 93.99 (n)
  • 99.81 (a)
VANGL2 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VANGL2 36
  • 46 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vangl2 35
  • 89.89 (n)
  • 99.42 (a)
Vangl2 16
Vangl2 36
  • 99 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VANGL2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 55 (a)
OneToMany
-- 36
  • 36 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Vangl2 35
  • 89.89 (n)
  • 99.42 (a)
chicken
(Gallus gallus)
Aves VANGL2 35
  • 85.22 (n)
  • 92.51 (a)
VANGL2 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia VANGL2 36
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11014 35
vangl2 35
  • 79.4 (n)
  • 90.6 (a)
zebrafish
(Danio rerio)
Actinopterygii vangl2 35
  • 74.66 (n)
  • 77.35 (a)
vangl2 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Vang 36
  • 42 (a)
OneToMany
Vang 37
  • 46 (a)
worm
(Caenorhabditis elegans)
Secernentea vang-1 36
  • 30 (a)
OneToMany
B0410.2b 37
  • 31 (a)
B0410.2a 37
  • 31 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2933 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10649 36
  • 50 (a)
OneToMany
Species with no ortholog for VANGL2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for VANGL2 Gene

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

Paralogs for VANGL2 Gene

Paralogs for VANGL2 Gene

Selected SIMAP similar genes for VANGL2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with VANGL2: view

Variants for VANGL2 Gene

Sequence variations from dbSNP and Humsavar for VANGL2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs1324739 -- 160,427,464(-) GGAGG(A/C)AAAAA utr-variant-3-prime
rs2147474 -- 160,407,993(-) GTAAT(C/G)CCCCT intron-variant, upstream-variant-2KB
rs2369608 -- 160,407,709(+) ACTTA(C/T)GGGTC intron-variant, upstream-variant-2KB
rs3737797 -- 160,415,922(+) GCATG(C/T)AGGGT intron-variant
rs3737798 -- 160,420,194(+) CTGCT(A/G)GGCTT intron-variant

Relevant External Links for VANGL2 Gene

HapMap Linkage Disequilibrium report
VANGL2
Human Gene Mutation Database (HGMD)
VANGL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for VANGL2 Gene

Disorders for VANGL2 Gene

(1) OMIM Diseases for VANGL2 Gene (600533)

UniProtKB/Swiss-Prot

VANG2_HUMAN
  • 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. {ECO:0000269 PubMed:20558380}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for VANGL2 Gene

(3) Novoseek inferred disease relationships for VANGL2 Gene

Disease -log(P) Hits PubMed IDs
craniorachischisis 94.4 2
neural tube defects 68.9 2
strabismus 56.9 1

Relevant External Links for VANGL2

Genetic Association Database (GAD)
VANGL2
Human Genome Epidemiology (HuGE) Navigator
VANGL2
genes like me logo Genes that share disorders with VANGL2: view

Publications for VANGL2 Gene

  1. VANGL2 mutations in human cranial neural-tube defects. (PMID: 20558380) Lei Y.P. … Wang H.Y. (N. Engl. J. Med. 2010) 3 4 48
  2. 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. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 3 4
  3. Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail. (PMID: 11431695) Kibar Z. … Gros P. (Nat. Genet. 2001) 2 3
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4

Products for VANGL2 Gene

Sources for VANGL2 Gene

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