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Q9ULK5

- VANG2_HUMAN

UniProt

Q9ULK5 - VANG2_HUMAN

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Protein

Vang-like protein 2

Gene

VANGL2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

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 heart morphogenesis Source: Ensembl
  25. planar cell polarity pathway involved in neural tube closure Source: Ensembl
  26. planar dichotomous subdivision of terminal units involved in lung branching morphogenesis Source: Ensembl
  27. positive regulation of JUN kinase activity Source: Ensembl
  28. post-anal tail morphogenesis Source: Ensembl
  29. regulation of actin cytoskeleton organization Source: Ensembl
  30. regulation of Wnt signaling pathway Source: Ensembl
  31. Rho protein signal transduction Source: Ensembl
  32. somatic stem cell division Source: Ensembl
  33. somatic stem cell maintenance Source: Ensembl
  34. wound healing Source: Ensembl
Complete GO annotation...

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. ER to Golgi transport vesicle Source: Ensembl
  6. integral component of membrane Source: UniProtKB-KW
  7. lateral plasma membrane Source: UniProtKB
  8. plasma membrane Source: Reactome
  9. stress fiber Source: Ensembl
Complete GO annotation...

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. 8 interactions.
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.
GeneTreeiENSGT00390000012496.
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

        10         20         30         40         50
MDTESQYSGY SYKSGHSRSS RKHRDRRDRH RSKSRDGGRG DKSVTIQAPG
60 70 80 90 100
EPLLDNESTR GDERDDNWGE TTTVVTGTSE HSISHDDLTR IAKDMEDSVP
110 120 130 140 150
LDCSRHLGVA AGATLALLSF LTPLAFLLLP PLLWREELEP CGTACEGLFI
160 170 180 190 200
SVAFKLLILL LGSWALFFRR PKASLPRVFV LRALLMVLVF LLVVSYWLFY
210 220 230 240 250
GVRILDARER SYQGVVQFAV SLVDALLFVH YLAVVLLELR QLQPQFTLKV
260 270 280 290 300
VRSTDGASRF YNVGHLSIQR VAVWILEKYY HDFPVYNPAL LNLPKSVLAK
310 320 330 340 350
KVSGFKVYSL GEENSTNNST GQSRAVIAAA ARRRDNSHNE YYYEEAEHER
360 370 380 390 400
RVRKRRARLV VAVEEAFTHI KRLQEEEQKN PREVMDPREA AQAIFASMAR
410 420 430 440 450
AMQKYLRTTK QQPYHTMESI LQHLEFCITH DMTPKAFLER YLAAGPTIQY
460 470 480 490 500
HKERWLAKQW TLVSEEPVTN GLKDGIVFLL KRQDFSLVVS TKKVPFFKLS
510 520
EEFVDPKSHK FVMRLQSETS V
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. 8 interactions.
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.
GeneTreei ENSGT00390000012496.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 99 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