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Q9ULK5 (VANG2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Vang-like protein 2
Alternative name(s):
Loop-tail protein 1 homolog
Strabismus 1
Van Gogh-like protein 2
Gene names
Name:VANGL2
Synonyms:KIAA1215, STB1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length521 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Subunit 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.

Subcellular location

Cell membrane; Multi-pass membrane protein By similarity.

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Belongs to the Vang family.

Sequence caution

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

Ontologies

Keywords
   Cellular componentCell membrane
Membrane
   DiseaseDisease mutation
   DomainTransmembrane
Transmembrane helix
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processRho protein signal transduction

Inferred from electronic annotation. Source: Ensembl

anterior/posterior pattern specification

Inferred from electronic annotation. Source: Ensembl

apical protein localization

Inferred from sequence or structural similarity. Source: UniProtKB

cell migration involved in kidney development

Inferred from sequence or structural similarity. Source: UniProtKB

cochlea morphogenesis

Inferred from electronic annotation. Source: Ensembl

convergent extension involved in axis elongation

Inferred from electronic annotation. Source: Ensembl

convergent extension involved in neural plate elongation

Inferred from electronic annotation. Source: Ensembl

digestive tract morphogenesis

Inferred from electronic annotation. Source: Ensembl

establishment of body hair planar orientation

Inferred from electronic annotation. Source: Ensembl

establishment of planar polarity

Inferred from sequence or structural similarity. Source: UniProtKB

establishment of planar polarity involved in neural tube closure

Inferred from electronic annotation. Source: Ensembl

establishment or maintenance of epithelial cell apical/basal polarity

Inferred from electronic annotation. Source: Ensembl

glomerulus development

Inferred from electronic annotation. Source: Ensembl

hair follicle development

Inferred from electronic annotation. Source: Ensembl

heart looping

Inferred from sequence or structural similarity. Source: UniProtKB

inner ear receptor stereocilium organization

Inferred from electronic annotation. Source: Ensembl

kidney morphogenesis

Inferred from electronic annotation. Source: Ensembl

lateral sprouting involved in lung morphogenesis

Inferred from electronic annotation. Source: Ensembl

membranous septum morphogenesis

Inferred from electronic annotation. Source: Ensembl

muscular septum morphogenesis

Inferred from electronic annotation. Source: Ensembl

neural tube closure

Inferred from sequence or structural similarity. Source: UniProtKB

nonmotile primary cilium assembly

Inferred from sequence or structural similarity. Source: UniProtKB

orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis

Inferred from electronic annotation. Source: Ensembl

planar cell polarity pathway involved in axis elongation

Inferred from electronic annotation. Source: Ensembl

planar cell polarity pathway involved in neural tube closure

Inferred from electronic annotation. Source: Ensembl

planar dichotomous subdivision of terminal units involved in lung branching morphogenesis

Inferred from electronic annotation. Source: Ensembl

positive regulation of JUN kinase activity

Inferred from electronic annotation. Source: Ensembl

post-anal tail morphogenesis

Inferred from electronic annotation. Source: Ensembl

regulation of actin cytoskeleton organization

Inferred from electronic annotation. Source: Ensembl

somatic stem cell division

Inferred from electronic annotation. Source: Ensembl

somatic stem cell maintenance

Inferred from electronic annotation. Source: Ensembl

wound healing

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentapical plasma membrane

Inferred from sequence or structural similarity. Source: UniProtKB

basolateral plasma membrane

Inferred from electronic annotation. Source: Ensembl

cell pole

Inferred from electronic annotation. Source: Ensembl

cell-cell junction

Inferred from sequence or structural similarity. Source: UniProtKB

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

lateral plasma membrane

Inferred from sequence or structural similarity. Source: UniProtKB

plasma membrane

Traceable author statement. Source: Reactome

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 521521Vang-like protein 2
PRO_0000186195

Regions

Topological domain1 – 108108Cytoplasmic Potential
Transmembrane109 – 12921Helical; Name=1; Potential
Topological domain130 – 14718Extracellular Potential
Transmembrane148 – 16821Helical; Name=2; Potential
Topological domain169 – 17810Cytoplasmic Potential
Transmembrane179 – 19921Helical; Name=3; Potential
Topological domain200 – 21718Extracellular Potential
Transmembrane218 – 23821Helical; Name=4; Potential
Topological domain239 – 521283Cytoplasmic Potential

Natural variations

Natural variant841S → F in NTD. Ref.5
VAR_067221
Natural variant3531R → C in NTD; the mutant protein has diminished interaction with DVL1 compared to wild-type. Ref.5
VAR_067222
Natural variant4371F → S in NTD; the mutation protein completely abrogates interaction with DVL1 compared to wild-type. Ref.5
VAR_067223

Sequences

Sequence LengthMass (Da)Tools
Q9ULK5 [UniParc].

Last modified October 31, 2003. Version 2.
Checksum: 0E1FFE4ACC102560

FASTA52159,714
        10         20         30         40         50         60 
MDTESQYSGY SYKSGHSRSS RKHRDRRDRH RSKSRDGGRG DKSVTIQAPG EPLLDNESTR 

        70         80         90        100        110        120 
GDERDDNWGE TTTVVTGTSE HSISHDDLTR IAKDMEDSVP LDCSRHLGVA AGATLALLSF 

       130        140        150        160        170        180 
LTPLAFLLLP PLLWREELEP CGTACEGLFI SVAFKLLILL LGSWALFFRR PKASLPRVFV 

       190        200        210        220        230        240 
LRALLMVLVF LLVVSYWLFY GVRILDARER SYQGVVQFAV SLVDALLFVH YLAVVLLELR 

       250        260        270        280        290        300 
QLQPQFTLKV VRSTDGASRF YNVGHLSIQR VAVWILEKYY HDFPVYNPAL LNLPKSVLAK 

       310        320        330        340        350        360 
KVSGFKVYSL GEENSTNNST GQSRAVIAAA ARRRDNSHNE YYYEEAEHER RVRKRRARLV 

       370        380        390        400        410        420 
VAVEEAFTHI KRLQEEEQKN PREVMDPREA AQAIFASMAR AMQKYLRTTK QQPYHTMESI 

       430        440        450        460        470        480 
LQHLEFCITH DMTPKAFLER YLAAGPTIQY HKERWLAKQW TLVSEEPVTN GLKDGIVFLL 

       490        500        510        520 
KRQDFSLVVS TKKVPFFKLS EEFVDPKSHK FVMRLQSETS V 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB033041 mRNA. Translation: BAA86529.1. Different initiation.
AL445230 Genomic DNA. Translation: CAI15015.1.
CH471121 Genomic DNA. Translation: EAW52718.1.
BC103920 mRNA. No translation available.
RefSeqNP_065068.1. NM_020335.2.
XP_005245414.1. XM_005245357.1.
UniGeneHs.99477.

3D structure databases

ProteinModelPortalQ9ULK5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121454. 1 interaction.
IntActQ9ULK5. 3 interactions.
STRING9606.ENSP00000357040.

PTM databases

PhosphoSiteQ9ULK5.

Polymorphism databases

DMDM38258849.

Proteomic databases

PaxDbQ9ULK5.
PRIDEQ9ULK5.

Protocols and materials databases

DNASU57216.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000368061; ENSP00000357040; ENSG00000162738.
GeneID57216.
KEGGhsa:57216.
UCSCuc001fwb.2. human.

Organism-specific databases

CTD57216.
GeneCardsGC01P160370.
H-InvDBHIX0001219.
HGNCHGNC:15511. VANGL2.
HPAHPA027043.
MIM182940. phenotype.
600533. gene.
neXtProtNX_Q9ULK5.
Orphanet268392. 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.
PharmGKBPA37970.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG268286.
HOGENOMHOG000230590.
HOVERGENHBG058215.
InParanoidQ9ULK5.
KOK04510.
OMATIQYHKD.
OrthoDBEOG7MSMNR.
PhylomeDBQ9ULK5.
TreeFamTF313467.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.

Gene expression databases

BgeeQ9ULK5.
CleanExHS_VANGL2.
GenevestigatorQ9ULK5.

Family and domain databases

InterProIPR009539. Strabismus.
[Graphical view]
PANTHERPTHR20886. PTHR20886. 1 hit.
PfamPF06638. Strabismus. 1 hit.
[Graphical view]
PIRSFPIRSF007991. Strabismus. 1 hit.
ProtoNetSearch...

Other

ChiTaRSVANGL2. human.
GenomeRNAi57216.
NextBio63337.
PROQ9ULK5.
SOURCESearch...

Entry information

Entry nameVANG2_HUMAN
AccessionPrimary (citable) accession number: Q9ULK5
Secondary accession number(s): D3DVE9, Q5T212
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: October 31, 2003
Last modified: April 16, 2014
This is version 94 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM