Gene: Vangl2

Basic information

Tag Content
Uniprot ID Q91ZD4; Q923Z8;
Entrez ID 93840
Genbank protein ID AAK91927.1; AAH52195.1; AAK63188.3;
Genbank nucleotide ID NM_033509.4; XM_006497051.3; XM_006497052.3; XM_006497053.3; XM_006497054.3; XM_017313008.1;
Ensembl protein ID ENSMUSP00000106894; ENSMUSP00000027837;
Ensembl nucleotide ID ENSMUSG00000026556
Gene name Vang-like protein 2
Gene symbol Vangl2
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage
Data sources Manually collected
Reference 20940229; 23095888;
Functional description 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).
Sequence
MDTESQYSGY SYKSGHSRSS RKHRDRRDRH RSKSRDGSRG DKSVTIQAPG EPLLDNESTR 60
GDERDDNWGE TTTVVTGTSE HSISHDDLTR IAKDMEDSVP LDCSRHLGVA AGAILALLSF 120
LTPLAFLLLP PLLWREELEP CGTACEGLFI SVAFKLLILL LGSWALFFRR PKASLPRVFV 180
LRALLMVLVF LLVISYWLFY GVRILDARER SYQGVVQFAV SLVDALLFVH YLAVVLLELR 240
QLQPQFTLKV VRSTDGASRF YNVGHLSIQR VAVWILEKYY HDFPVYNPAL LNLPKSVLAK 300
KVSGFKVYSL GEENSTNNST GQSRAVIAAA ARRRDNSHNE YYYEEAEHER RVRKRRARLV 360
VAVEEAFTHI KRLQEEEQKN PREVMDPREA AQAIFASMAR AMQKYLRTTK QQPYHTMESI 420
LQHLEFCITH DMTPKAFLER YLAAGPTIQY HKERWLAKQW TLVSEEPVTN GLKDGIVFLL 480
KRQDFSLVVS TKKVPFFKLS EEFVDPKSHK FVMRLQSETS V 521

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005515 protein bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0001569 branching involved in blood vessel morphogenesisTAS
GO:0001736 establishment of planar polarityIMP
GO:0001736 establishment of planar polarityIGI
GO:0001843 neural tube closureIMP
GO:0001843 neural tube closureIGI
GO:0001942 hair follicle developmentIMP
GO:0001947 heart loopingIMP
GO:0003148 outflow tract septum morphogenesisTAS
GO:0003149 membranous septum morphogenesisIGI
GO:0003150 muscular septum morphogenesisIGI
GO:0003347 epicardial cell to mesenchymal cell transitionTAS
GO:0003402 planar cell polarity pathway involved in axis elongationIGI
GO:0007266 Rho protein signal transductionIMP
GO:0009952 anterior/posterior pattern specificationIMP
GO:0015012 heparan sulfate proteoglycan biosynthetic processIMP
GO:0022007 convergent extension involved in neural plate elongationIGI
GO:0022007 convergent extension involved in neural plate elongationIMP
GO:0030111 regulation of Wnt signaling pathwayIMP
GO:0032835 glomerulus developmentIMP
GO:0032956 regulation of actin cytoskeleton organizationIMP
GO:0035019 somatic stem cell population maintenanceIMP
GO:0035567 non-canonical Wnt signaling pathwayIMP
GO:0035787 cell migration involved in kidney developmentIMP
GO:0036342 post-anal tail morphogenesisIMP
GO:0036514 dopaminergic neuron axon guidanceIMP
GO:0036515 serotonergic neuron axon guidanceIMP
GO:0042060 wound healingIGI
GO:0043507 positive regulation of JUN kinase activityIGI
GO:0045176 apical protein localizationIMP
GO:0045197 establishment or maintenance of epithelial cell apical/basal polarityIMP
GO:0048103 somatic stem cell divisionIMP
GO:0048105 establishment of body hair planar orientationIMP
GO:0048546 digestive tract morphogenesisIGI
GO:0060028 convergent extension involved in axis elongationIMP
GO:0060029 convergent extension involved in organogenesisIGI
GO:0060071 Wnt signaling pathway, planar cell polarity pathwayIMP
GO:0060071 Wnt signaling pathway, planar cell polarity pathwayIGI
GO:0060119 inner ear receptor cell developmentIGI
GO:0060122 inner ear receptor cell stereocilium organizationIGI
GO:0060122 inner ear receptor cell stereocilium organizationIMP
GO:0060488 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesisIMP
GO:0060489 planar dichotomous subdivision of terminal units involved in lung branching morphogenesisIMP
GO:0060490 lateral sprouting involved in lung morphogenesisIMP
GO:0060947 cardiac vascular smooth muscle cell differentiationTAS
GO:0060993 kidney morphogenesisIMP
GO:0061346 planar cell polarity pathway involved in heart morphogenesisIMP
GO:0090102 cochlea developmentIGI
GO:0090103 cochlea morphogenesisIMP
GO:0090103 cochlea morphogenesisIGI
GO:0090162 establishment of epithelial cell polarityTAS
GO:0090175 regulation of establishment of planar polarityIGI
GO:0090177 establishment of planar polarity involved in neural tube closureIMP
GO:0090179 planar cell polarity pathway involved in neural tube closureIGI
GO:0090179 planar cell polarity pathway involved in neural tube closureIMP
GO:1904938 planar cell polarity pathway involved in axon guidanceIMP
GO:1905515 non-motile cilium assemblyIGI

GO:Cellular Component

GO ID GO Term Evidence
GO:0001725 stress fiberIDA
GO:0005886 plasma membraneIDA
GO:0005886 plasma membraneIBA
GO:0005886 plasma membraneTAS
GO:0005911 cell-cell junctionIDA
GO:0016021 integral component of membraneISS
GO:0016323 basolateral plasma membraneIDA
GO:0016324 apical plasma membraneIDA
GO:0016328 lateral plasma membraneIDA
GO:0030134 COPII-coated ER to Golgi transport vesicleIDA
GO:0060187 cell poleIDA
GO:0071944 cell peripheryIDA

Reactome Pathway

Reactome ID Reactome Term Evidence

Functional annotations

Keywords

Keyword ID Keyword Term
KW-1003 Cell membrane
KW-0217 Developmental protein
KW-0225 Disease mutation
KW-0472 Membrane
KW-1185 Reference proteome
KW-0812 Transmembrane
KW-1133 Transmembrane helix

Interpro

InterPro ID InterPro Term
IPR009539 VANGL

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF06638 Strabismus

Protein-protein interaction

Protein-miRNA interaction