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Q9ULK5

- VANG2_HUMAN

UniProt

Q9ULK5 - VANG2_HUMAN

Protein

Vang-like protein 2

Gene

VANGL2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 2 (31 Oct 2003)
      Previous versions | rss
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    Functioni

    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.By similarity

    GO - Biological processi

    1. anterior/posterior pattern specification Source: Ensembl
    2. apical protein localization Source: UniProtKB
    3. cell migration involved in kidney development Source: UniProtKB
    4. cochlea morphogenesis Source: Ensembl
    5. convergent extension involved in axis elongation Source: Ensembl
    6. convergent extension involved in neural plate elongation Source: Ensembl
    7. digestive tract morphogenesis Source: Ensembl
    8. establishment of body hair planar orientation Source: Ensembl
    9. establishment of planar polarity Source: UniProtKB
    10. establishment of planar polarity involved in neural tube closure Source: Ensembl
    11. establishment or maintenance of epithelial cell apical/basal polarity Source: Ensembl
    12. glomerulus development Source: Ensembl
    13. hair follicle development Source: Ensembl
    14. heart looping Source: UniProtKB
    15. inner ear receptor stereocilium organization Source: Ensembl
    16. kidney morphogenesis Source: Ensembl
    17. lateral sprouting involved in lung morphogenesis Source: Ensembl
    18. membranous septum morphogenesis Source: Ensembl
    19. muscular septum morphogenesis Source: Ensembl
    20. neural tube closure Source: UniProtKB
    21. nonmotile primary cilium assembly Source: UniProtKB
    22. orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis Source: Ensembl
    23. planar cell polarity pathway involved in axis elongation Source: Ensembl
    24. planar cell polarity pathway involved in neural tube closure Source: Ensembl
    25. planar dichotomous subdivision of terminal units involved in lung branching morphogenesis Source: Ensembl
    26. positive regulation of JUN kinase activity Source: Ensembl
    27. post-anal tail morphogenesis Source: Ensembl
    28. regulation of actin cytoskeleton organization Source: Ensembl
    29. Rho protein signal transduction Source: Ensembl
    30. somatic stem cell division Source: Ensembl
    31. somatic stem cell maintenance Source: Ensembl
    32. wound healing Source: Ensembl

    Keywords - Molecular functioni

    Developmental protein

    Enzyme and pathway databases

    ReactomeiREACT_172581. PCP/CE pathway.
    REACT_172638. Asymmetric localization of PCP proteins.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Vang-like protein 2
    Alternative name(s):
    Loop-tail protein 1 homolog
    Strabismus 1
    Van Gogh-like protein 2
    Gene namesi
    Name:VANGL2
    Synonyms:KIAA1215, STB1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:15511. VANGL2.

    Subcellular locationi

    Cell membrane By similarity; Multi-pass membrane protein By similarity

    GO - Cellular componenti

    1. apical plasma membrane Source: UniProtKB
    2. basolateral plasma membrane Source: Ensembl
    3. cell-cell junction Source: UniProtKB
    4. cell pole Source: Ensembl
    5. integral component of membrane Source: UniProtKB-KW
    6. lateral plasma membrane Source: UniProtKB
    7. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti84 – 841S → F in NTD. 1 Publication
    VAR_067221
    Natural varianti353 – 3531R → C in NTD; the mutant protein has diminished interaction with DVL1 compared to wild-type. 1 Publication
    VAR_067222
    Natural varianti437 – 4371F → S in NTD; the mutation protein completely abrogates interaction with DVL1 compared to wild-type. 1 Publication
    VAR_067223

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi182940. phenotype.
    Orphaneti268392. Cervical spina bifida aperta.
    268762. Cervical spina bifida cystica.
    268397. Cervicothoracic spina bifida aperta.
    268766. Cervicothoracic spina bifida cystica.
    1048. Isolated anencephaly/exencephaly.
    268388. Lumbosacral spina bifida aperta.
    268758. Lumbosacral spina bifida cystica.
    268384. Thoracolumbosacral spina bifida aperta.
    268752. Thoracolumbosacral spina bifida cystica.
    268377. Total spina bifida aperta.
    268748. Total spina bifida cystica.
    268740. Upper thoracic spina bifida aperta.
    268770. Upper thoracic spina bifida cystica.
    PharmGKBiPA37970.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 521521Vang-like protein 2PRO_0000186195Add
    BLAST

    Proteomic databases

    MaxQBiQ9ULK5.
    PaxDbiQ9ULK5.
    PRIDEiQ9ULK5.

    PTM databases

    PhosphoSiteiQ9ULK5.

    Expressioni

    Gene expression databases

    BgeeiQ9ULK5.
    CleanExiHS_VANGL2.
    GenevestigatoriQ9ULK5.

    Organism-specific databases

    HPAiHPA027043.

    Interactioni

    Subunit structurei

    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.By similarity

    Protein-protein interaction databases

    BioGridi121454. 1 interaction.
    IntActiQ9ULK5. 3 interactions.
    STRINGi9606.ENSP00000357040.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9ULK5.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 108108CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini130 – 14718ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini169 – 17810CytoplasmicSequence Analysis
    Topological domaini200 – 21718ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini239 – 521283CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei109 – 12921Helical; Name=1Sequence AnalysisAdd
    BLAST
    Transmembranei148 – 16821Helical; Name=2Sequence AnalysisAdd
    BLAST
    Transmembranei179 – 19921Helical; Name=3Sequence AnalysisAdd
    BLAST
    Transmembranei218 – 23821Helical; Name=4Sequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the Vang family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG268286.
    HOGENOMiHOG000230590.
    HOVERGENiHBG058215.
    InParanoidiQ9ULK5.
    KOiK04510.
    OMAiTIQYHKD.
    OrthoDBiEOG7MSMNR.
    PhylomeDBiQ9ULK5.
    TreeFamiTF313467.

    Family and domain databases

    InterProiIPR009539. Strabismus.
    [Graphical view]
    PANTHERiPTHR20886. PTHR20886. 1 hit.
    PfamiPF06638. Strabismus. 1 hit.
    [Graphical view]
    PIRSFiPIRSF007991. Strabismus. 1 hit.

    Sequencei

    Sequence statusi: Complete.

    Q9ULK5-1 [UniParc]FASTAAdd to Basket

    « Hide

    MDTESQYSGY SYKSGHSRSS RKHRDRRDRH RSKSRDGGRG DKSVTIQAPG    50
    EPLLDNESTR GDERDDNWGE TTTVVTGTSE HSISHDDLTR IAKDMEDSVP 100
    LDCSRHLGVA AGATLALLSF LTPLAFLLLP PLLWREELEP CGTACEGLFI 150
    SVAFKLLILL LGSWALFFRR PKASLPRVFV LRALLMVLVF LLVVSYWLFY 200
    GVRILDARER SYQGVVQFAV SLVDALLFVH YLAVVLLELR QLQPQFTLKV 250
    VRSTDGASRF YNVGHLSIQR VAVWILEKYY HDFPVYNPAL LNLPKSVLAK 300
    KVSGFKVYSL GEENSTNNST GQSRAVIAAA ARRRDNSHNE YYYEEAEHER 350
    RVRKRRARLV VAVEEAFTHI KRLQEEEQKN PREVMDPREA AQAIFASMAR 400
    AMQKYLRTTK QQPYHTMESI LQHLEFCITH DMTPKAFLER YLAAGPTIQY 450
    HKERWLAKQW TLVSEEPVTN GLKDGIVFLL KRQDFSLVVS TKKVPFFKLS 500
    EEFVDPKSHK FVMRLQSETS V 521
    Length:521
    Mass (Da):59,714
    Last modified:October 31, 2003 - v2
    Checksum:i0E1FFE4ACC102560
    GO

    Sequence cautioni

    The sequence BAA86529.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti84 – 841S → F in NTD. 1 Publication
    VAR_067221
    Natural varianti353 – 3531R → C in NTD; the mutant protein has diminished interaction with DVL1 compared to wild-type. 1 Publication
    VAR_067222
    Natural varianti437 – 4371F → S in NTD; the mutation protein completely abrogates interaction with DVL1 compared to wild-type. 1 Publication
    VAR_067223

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB033041 mRNA. Translation: BAA86529.1. Different initiation.
    AL445230 Genomic DNA. Translation: CAI15015.1.
    CH471121 Genomic DNA. Translation: EAW52718.1.
    BC103920 mRNA. No translation available.
    CCDSiCCDS30915.1.
    RefSeqiNP_065068.1. NM_020335.2.
    XP_005245414.1. XM_005245357.1.
    UniGeneiHs.99477.

    Genome annotation databases

    EnsembliENST00000368061; ENSP00000357040; ENSG00000162738.
    GeneIDi57216.
    KEGGihsa:57216.
    UCSCiuc001fwb.2. human.

    Polymorphism databases

    DMDMi38258849.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB033041 mRNA. Translation: BAA86529.1 . Different initiation.
    AL445230 Genomic DNA. Translation: CAI15015.1 .
    CH471121 Genomic DNA. Translation: EAW52718.1 .
    BC103920 mRNA. No translation available.
    CCDSi CCDS30915.1.
    RefSeqi NP_065068.1. NM_020335.2.
    XP_005245414.1. XM_005245357.1.
    UniGenei Hs.99477.

    3D structure databases

    ProteinModelPortali Q9ULK5.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121454. 1 interaction.
    IntActi Q9ULK5. 3 interactions.
    STRINGi 9606.ENSP00000357040.

    PTM databases

    PhosphoSitei Q9ULK5.

    Polymorphism databases

    DMDMi 38258849.

    Proteomic databases

    MaxQBi Q9ULK5.
    PaxDbi Q9ULK5.
    PRIDEi Q9ULK5.

    Protocols and materials databases

    DNASUi 57216.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000368061 ; ENSP00000357040 ; ENSG00000162738 .
    GeneIDi 57216.
    KEGGi hsa:57216.
    UCSCi uc001fwb.2. human.

    Organism-specific databases

    CTDi 57216.
    GeneCardsi GC01P160370.
    H-InvDB HIX0001219.
    HGNCi HGNC:15511. VANGL2.
    HPAi HPA027043.
    MIMi 182940. phenotype.
    600533. gene.
    neXtProti NX_Q9ULK5.
    Orphaneti 268392. Cervical spina bifida aperta.
    268762. Cervical spina bifida cystica.
    268397. Cervicothoracic spina bifida aperta.
    268766. Cervicothoracic spina bifida cystica.
    1048. Isolated anencephaly/exencephaly.
    268388. Lumbosacral spina bifida aperta.
    268758. Lumbosacral spina bifida cystica.
    268384. Thoracolumbosacral spina bifida aperta.
    268752. Thoracolumbosacral spina bifida cystica.
    268377. Total spina bifida aperta.
    268748. Total spina bifida cystica.
    268740. Upper thoracic spina bifida aperta.
    268770. Upper thoracic spina bifida cystica.
    PharmGKBi PA37970.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG268286.
    HOGENOMi HOG000230590.
    HOVERGENi HBG058215.
    InParanoidi Q9ULK5.
    KOi K04510.
    OMAi TIQYHKD.
    OrthoDBi EOG7MSMNR.
    PhylomeDBi Q9ULK5.
    TreeFami TF313467.

    Enzyme and pathway databases

    Reactomei REACT_172581. PCP/CE pathway.
    REACT_172638. Asymmetric localization of PCP proteins.

    Miscellaneous databases

    ChiTaRSi VANGL2. human.
    GenomeRNAii 57216.
    NextBioi 63337.
    PROi Q9ULK5.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9ULK5.
    CleanExi HS_VANGL2.
    Genevestigatori Q9ULK5.

    Family and domain databases

    InterProi IPR009539. Strabismus.
    [Graphical view ]
    PANTHERi PTHR20886. PTHR20886. 1 hit.
    Pfami PF06638. Strabismus. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF007991. Strabismus. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "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."
      Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.
      DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Brain.
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. "VANGL2 mutations in human cranial neural-tube defects."
      Lei Y.P., Zhang T., Li H., Wu B.L., Jin L., Wang H.Y.
      N. Engl. J. Med. 362:2232-2235(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS NTD PHE-84; CYS-353 AND SER-437, CHARACTERIZATION OF VARIANTS NTD CYS-353 AND SER-437.

    Entry informationi

    Entry nameiVANG2_HUMAN
    AccessioniPrimary (citable) accession number: Q9ULK5
    Secondary accession number(s): D3DVE9, Q5T212
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 31, 2003
    Last sequence update: October 31, 2003
    Last modified: October 1, 2014
    This is version 98 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3