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Protein

Vang-like protein 2

Gene

Vangl2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: 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. Required for cell surface localization of FZD3 and FZD6 in the inner ear (PubMed:16495441).3 Publications

GO - Biological processi

  • anterior/posterior pattern specification Source: MGI
  • apical protein localization Source: MGI
  • cardiac vascular smooth muscle cell differentiation Source: DFLAT
  • cell migration involved in kidney development Source: UniProtKB
  • cochlea development Source: MGI
  • cochlea morphogenesis Source: MGI
  • convergent extension involved in axis elongation Source: MGI
  • convergent extension involved in neural plate elongation Source: MGI
  • convergent extension involved in organogenesis Source: MGI
  • digestive tract morphogenesis Source: MGI
  • dopaminergic neuron axon guidance Source: ParkinsonsUK-UCL
  • epicardial cell to mesenchymal cell transition Source: DFLAT
  • establishment of body hair planar orientation Source: MGI
  • establishment of epithelial cell polarity Source: DFLAT
  • establishment of planar polarity Source: UniProtKB
  • establishment of planar polarity involved in neural tube closure Source: MGI
  • establishment or maintenance of epithelial cell apical/basal polarity Source: MGI
  • glomerulus development Source: MGI
  • hair follicle development Source: MGI
  • heart looping Source: UniProtKB
  • heparan sulfate proteoglycan biosynthetic process Source: MGI
  • inner ear receptor cell development Source: MGI
  • inner ear receptor stereocilium organization Source: MGI
  • kidney morphogenesis Source: MGI
  • lateral sprouting involved in lung morphogenesis Source: MGI
  • membranous septum morphogenesis Source: MGI
  • muscular septum morphogenesis Source: MGI
  • neural tube closure Source: MGI
  • non-canonical Wnt signaling pathway Source: MGI
  • non-motile cilium assembly Source: MGI
  • orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis Source: MGI
  • outflow tract septum morphogenesis Source: DFLAT
  • patterning of blood vessels Source: DFLAT
  • planar cell polarity pathway involved in axis elongation Source: MGI
  • planar cell polarity pathway involved in axon guidance Source: ParkinsonsUK-UCL
  • planar cell polarity pathway involved in heart morphogenesis Source: MGI
  • planar cell polarity pathway involved in neural tube closure Source: MGI
  • planar dichotomous subdivision of terminal units involved in lung branching morphogenesis Source: MGI
  • positive regulation of JUN kinase activity Source: MGI
  • post-anal tail morphogenesis Source: MGI
  • regulation of actin cytoskeleton organization Source: MGI
  • regulation of establishment of planar polarity Source: MGI
  • regulation of Wnt signaling pathway Source: MGI
  • Rho protein signal transduction Source: MGI
  • serotonergic neuron axon guidance Source: ParkinsonsUK-UCL
  • somatic stem cell division Source: MGI
  • somatic stem cell population maintenance Source: MGI
  • Wnt signaling pathway, planar cell polarity pathway Source: MGI
  • wound healing Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Enzyme and pathway databases

ReactomeiR-MMU-4086400. PCP/CE pathway.
R-MMU-4608870. Asymmetric localization of PCP proteins.

Names & Taxonomyi

Protein namesi
Recommended name:
Vang-like protein 2
Alternative name(s):
Loop-tail protein 1
Loop-tail-associated protein
Van Gogh-like protein 2
Gene namesi
Name:Vangl2
Synonyms:Lpp1, Ltap
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 1

Organism-specific databases

MGIiMGI:2135272. Vangl2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 108CytoplasmicSequence analysisAdd BLAST108
Transmembranei109 – 129Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini130 – 147ExtracellularSequence analysisAdd BLAST18
Transmembranei148 – 168Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini169 – 178CytoplasmicSequence analysis10
Transmembranei179 – 199Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini200 – 217ExtracellularSequence analysisAdd BLAST18
Transmembranei218 – 238Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini239 – 521CytoplasmicSequence analysisAdd BLAST283

GO - Cellular componenti

  • apical plasma membrane Source: MGI
  • basolateral plasma membrane Source: UniProtKB
  • cell-cell junction Source: UniProtKB
  • cell periphery Source: MGI
  • cell pole Source: MGI
  • ER to Golgi transport vesicle Source: MGI
  • integral component of membrane Source: MGI
  • lateral plasma membrane Source: MGI
  • plasma membrane Source: MGI
  • stress fiber Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Defects in Vangl2 are a cause of the loop-tail (Lp) mutant phenotype. Heterozygous Lp mice exhibit a characteristic looped tail, while homozygous embryos show a completely open neural tube in the hindbrain and spinal region, a condition similar to the severe craniorachischisis defect in humans. Homozygotes also have complex cardiovascular defects including double-outlet right ventricle, perimembranous ventricular defects, double-sided aortic arch and associated abnormalities in the aortic arch arteries. Homozygotes show cytoplasmic accumulation of Vangl2 instead of the normal membrane localization, and Rhoa expression, which is detected in the mesenchymal cushion cells adjacent to the outflow tract, is lost in homozygotes. Homozygous embryos typically die shortly before or at birth.

Keywords - Diseasei

Disease mutation

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001861961 – 521Vang-like protein 2Add BLAST521

Proteomic databases

MaxQBiQ91ZD4.
PaxDbiQ91ZD4.
PRIDEiQ91ZD4.

PTM databases

iPTMnetiQ91ZD4.
PhosphoSitePlusiQ91ZD4.
SwissPalmiQ91ZD4.

Expressioni

Tissue specificityi

Primarily expressed in the brain and epididymis. Not detected in the cochlea of Lp mice.4 Publications

Developmental stagei

In the embryo, strongly expressed in the neuroectoderm from the earliest stages of neural induction through the late stages of neural tube closure. Detected in the dorso-ventral axis of the neural tube, but not in the floor plate. Expression is low at day E7; it peaks at E11, and it remains strong at E15 and E17. Also expressed in the cochlear epithelium at days E14.5 and E16.5. Detected at low levels in the outflow tract myocardium from E9.5 with levels increasing by E11.5.3 Publications

Gene expression databases

BgeeiENSMUSG00000026556.
CleanExiMM_VANGL2.
ExpressionAtlasiQ91ZD4. baseline and differential.
GenevisibleiQ91ZD4. MM.

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. Variants Glu-255 and Asn-464 impair interaction with the DVL proteins. Also interacts with the PDZ domains of MAGI3, SCRIB/SCRB1 and FZD3.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
Dact1Q8R4A33EBI-1750744,EBI-3870250
Dlg4P310166EBI-1750744,EBI-375655From a different organism.
Dvl1P511412EBI-1750744,EBI-1538407
Dvl2Q608384EBI-1750744,EBI-641940
Dvl3Q610622EBI-1750744,EBI-1538450

Protein-protein interaction databases

BioGridi220314. 6 interactors.
IntActiQ91ZD4. 11 interactors.
MINTiMINT-8416698.
STRINGi10090.ENSMUSP00000027837.

Structurei

3D structure databases

ProteinModelPortaliQ91ZD4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the Vang family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3814. Eukaryota.
ENOG410XPVT. LUCA.
GeneTreeiENSGT00390000012496.
HOVERGENiHBG058215.
InParanoidiQ91ZD4.
KOiK04510.
TreeFamiTF313467.

Family and domain databases

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

Sequencei

Sequence statusi: Complete.

Q91ZD4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDTESQYSGY SYKSGHSRSS RKHRDRRDRH RSKSRDGSRG DKSVTIQAPG
60 70 80 90 100
EPLLDNESTR GDERDDNWGE TTTVVTGTSE HSISHDDLTR IAKDMEDSVP
110 120 130 140 150
LDCSRHLGVA AGAILALLSF LTPLAFLLLP PLLWREELEP CGTACEGLFI
160 170 180 190 200
SVAFKLLILL LGSWALFFRR PKASLPRVFV LRALLMVLVF LLVISYWLFY
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):59,771
Last modified:June 1, 2002 - v3
Checksum:i94ECEF3EE63DF5BC
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural varianti255D → E in Lp. 1 Publication1
Natural varianti464S → N in Lp. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY035370 mRNA. Translation: AAK63188.3.
AF365875 mRNA. Translation: AAK91927.1.
BC052195 mRNA. Translation: AAH52195.1.
CCDSiCCDS15505.1.
RefSeqiNP_277044.1. NM_033509.4.
XP_006497114.1. XM_006497051.3.
XP_006497115.1. XM_006497052.3.
XP_006497116.1. XM_006497053.3.
XP_006497117.1. XM_006497054.3.
XP_017168497.1. XM_017313008.1.
UniGeneiMm.36148.
Mm.392110.

Genome annotation databases

EnsembliENSMUST00000027837; ENSMUSP00000027837; ENSMUSG00000026556.
ENSMUST00000111263; ENSMUSP00000106894; ENSMUSG00000026556.
GeneIDi93840.
KEGGimmu:93840.
UCSCiuc007dpi.1. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY035370 mRNA. Translation: AAK63188.3.
AF365875 mRNA. Translation: AAK91927.1.
BC052195 mRNA. Translation: AAH52195.1.
CCDSiCCDS15505.1.
RefSeqiNP_277044.1. NM_033509.4.
XP_006497114.1. XM_006497051.3.
XP_006497115.1. XM_006497052.3.
XP_006497116.1. XM_006497053.3.
XP_006497117.1. XM_006497054.3.
XP_017168497.1. XM_017313008.1.
UniGeneiMm.36148.
Mm.392110.

3D structure databases

ProteinModelPortaliQ91ZD4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi220314. 6 interactors.
IntActiQ91ZD4. 11 interactors.
MINTiMINT-8416698.
STRINGi10090.ENSMUSP00000027837.

PTM databases

iPTMnetiQ91ZD4.
PhosphoSitePlusiQ91ZD4.
SwissPalmiQ91ZD4.

Proteomic databases

MaxQBiQ91ZD4.
PaxDbiQ91ZD4.
PRIDEiQ91ZD4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000027837; ENSMUSP00000027837; ENSMUSG00000026556.
ENSMUST00000111263; ENSMUSP00000106894; ENSMUSG00000026556.
GeneIDi93840.
KEGGimmu:93840.
UCSCiuc007dpi.1. mouse.

Organism-specific databases

CTDi57216.
MGIiMGI:2135272. Vangl2.

Phylogenomic databases

eggNOGiKOG3814. Eukaryota.
ENOG410XPVT. LUCA.
GeneTreeiENSGT00390000012496.
HOVERGENiHBG058215.
InParanoidiQ91ZD4.
KOiK04510.
TreeFamiTF313467.

Enzyme and pathway databases

ReactomeiR-MMU-4086400. PCP/CE pathway.
R-MMU-4608870. Asymmetric localization of PCP proteins.

Miscellaneous databases

PROiQ91ZD4.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000026556.
CleanExiMM_VANGL2.
ExpressionAtlasiQ91ZD4. baseline and differential.
GenevisibleiQ91ZD4. MM.

Family and domain databases

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

Entry informationi

Entry nameiVANG2_MOUSE
AccessioniPrimary (citable) accession number: Q91ZD4
Secondary accession number(s): Q923Z8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 31, 2003
Last sequence update: June 1, 2002
Last modified: November 30, 2016
This is version 115 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.