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VANG2_MOUSE
ID   VANG2_MOUSE             Reviewed;         521 AA.
AC   Q91ZD4; Q923Z8;
DT   31-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-2002, sequence version 3.
DT   03-AUG-2022, entry version 141.
DE   RecName: Full=Vang-like protein 2;
DE   AltName: Full=Loop-tail protein 1;
DE   AltName: Full=Loop-tail-associated protein;
DE   AltName: Full=Van Gogh-like protein 2;
GN   Name=Vangl2; Synonyms=Lpp1, Ltap;
OS   Mus musculus (Mouse).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC   Murinae; Mus; Mus.
OX   NCBI_TaxID=10090;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND VARIANT LP ASN-464.
RC   STRAIN=C57BL/6J;
RX   PubMed=11709546; DOI=10.1093/hmg/10.22.2593;
RA   Murdoch J.N., Doudney K., Paternotte C., Copp A.J., Stanier P.;
RT   "Severe neural tube defects in the loop-tail mouse result from mutation of
RT   Lpp1, a novel gene involved in floor plate specification.";
RL   Hum. Mol. Genet. 10:2593-2601(2001).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA], DEVELOPMENTAL STAGE, TISSUE SPECIFICITY, AND
RP   VARIANTS LP GLU-255 AND ASN-464.
RC   STRAIN=C57BL/6J;
RX   PubMed=11431695; DOI=10.1038/90081;
RA   Kibar Z., Vogan K.J., Groulx N., Justice M.J., Underhill D.A., Gros P.;
RT   "Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in
RT   the mouse neural tube mutant loop-tail.";
RL   Nat. Genet. 28:251-255(2001).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Limb;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   DISEASE.
RX   PubMed=11440971; DOI=10.1161/hh1301.092497;
RA   Henderson D.J., Conway S.J., Greene N.D.E., Gerrelli D., Murdoch J.N.,
RA   Anderson R.H., Copp A.J.;
RT   "Cardiovascular defects associated with abnormalities in midline
RT   development in the loop-tail mouse mutant.";
RL   Circ. Res. 89:6-12(2001).
RN   [5]
RP   FUNCTION, DEVELOPMENTAL STAGE, AND TISSUE SPECIFICITY.
RX   PubMed=12724779; DOI=10.1038/nature01618;
RA   Montcouquiol M., Rachel R.A., Lanford P.J., Copeland N.G., Jenkins N.A.,
RA   Kelley M.W.;
RT   "Identification of Vangl2 and Scrb1 as planar polarity genes in mammals.";
RL   Nature 423:173-177(2003).
RN   [6]
RP   INTERACTION WITH DVL1; DVL2 AND DVL3.
RX   PubMed=15456783; DOI=10.1074/jbc.m408675200;
RA   Torban E., Wang H.-J., Groulx N., Gros P.;
RT   "Independent mutations in mouse Vangl2 that cause neural tube defects in
RT   looptail mice impair interaction with members of the Dishevelled family.";
RL   J. Biol. Chem. 279:52703-52713(2004).
RN   [7]
RP   INTERACTION WITH MAGI3.
RX   PubMed=15195140; DOI=10.1038/sj.onc.1207817;
RA   Yao R., Natsume Y., Noda T.;
RT   "MAGI-3 is involved in the regulation of the JNK signaling pathway as a
RT   scaffold protein for frizzled and Ltap.";
RL   Oncogene 23:6023-6030(2004).
RN   [8]
RP   FUNCTION, AND DEVELOPMENTAL STAGE.
RX   PubMed=15637299; DOI=10.1161/01.res.0000154912.08695.88;
RA   Phillips H.M., Murdoch J.N., Chaudhry B., Copp A.J., Henderson D.J.;
RT   "Vangl2 acts via RhoA signaling to regulate polarized cell movements during
RT   development of the proximal outflow tract.";
RL   Circ. Res. 96:292-299(2005).
RN   [9]
RP   FUNCTION.
RX   PubMed=16495441; DOI=10.1523/jneurosci.4698-05.2005;
RA   Wang Y., Guo N., Nathans J.;
RT   "The role of Frizzled3 and Frizzled6 in neural tube closure and in the
RT   planar polarity of inner-ear sensory hair cells.";
RL   J. Neurosci. 26:2147-2156(2006).
RN   [10]
RP   INTERACTION WITH FZD3 AND SCRIB, AND TISSUE SPECIFICITY.
RX   PubMed=16687519; DOI=10.1523/jneurosci.4680-05.2006;
RA   Montcouquiol M., Sans N., Huss D., Kach J., Dickman J.D., Forge A.,
RA   Rachel R.A., Copeland N.G., Jenkins N.A., Bogani D., Murdoch J.,
RA   Warchol M.E., Wenthold R.J., Kelley M.W.;
RT   "Asymmetric localization of Vangl2 and Fz3 indicate novel mechanisms for
RT   planar cell polarity in mammals.";
RL   J. Neurosci. 26:5265-5275(2006).
RN   [11]
RP   SUBCELLULAR LOCATION, AND SUBUNIT.
RX   PubMed=23029439; DOI=10.1371/journal.pone.0046213;
RA   Belotti E., Puvirajesinghe T.M., Audebert S., Baudelet E., Camoin L.,
RA   Pierres M., Lasvaux L., Ferracci G., Montcouquiol M., Borg J.P.;
RT   "Molecular characterisation of endogenous Vangl2/Vangl1 heteromeric protein
RT   complexes.";
RL   PLoS ONE 7:E46213-E46213(2012).
CC   -!- FUNCTION: Involved in the control of early morphogenesis and patterning
CC       of both axial midline structures and the development of neural plate.
CC       Plays a role in the regulation of planar cell polarity, particularly in
CC       the orientation of stereociliary bundles in the cochlea. Required for
CC       polarization and movement of myocardializing cells in the outflow tract
CC       and seems to act via RHOA signaling to regulate this process. Required
CC       for cell surface localization of FZD3 and FZD6 in the inner ear
CC       (PubMed:16495441). {ECO:0000269|PubMed:12724779,
CC       ECO:0000269|PubMed:15637299, ECO:0000269|PubMed:16495441}.
CC   -!- SUBUNIT: Homodimer and heterodimer with Vangl1. Interacts through its
CC       C-terminal region with the N-terminal half of DVL1, DVL2 and DVL3. The
CC       PDZ domain of DVL1, DVL2 and DVL3 is required for the interaction.
CC       Variants Glu-255 and Asn-464 impair interaction with the DVL proteins.
CC       Also interacts with the PDZ domains of MAGI3, SCRIB/SCRB1 and FZD3
CC       (PubMed:15195140). Interacts with PRICKLE3 (By similarity).
CC       {ECO:0000250|UniProtKB:Q90X64, ECO:0000269|PubMed:15195140,
CC       ECO:0000269|PubMed:15456783, ECO:0000269|PubMed:16687519,
CC       ECO:0000269|PubMed:23029439}.
CC   -!- INTERACTION:
CC       Q91ZD4; Q8R4A3: Dact1; NbExp=3; IntAct=EBI-1750744, EBI-3870250;
CC       Q91ZD4; P51141: Dvl1; NbExp=2; IntAct=EBI-1750744, EBI-1538407;
CC       Q91ZD4; Q60838: Dvl2; NbExp=4; IntAct=EBI-1750744, EBI-641940;
CC       Q91ZD4; Q61062: Dvl3; NbExp=2; IntAct=EBI-1750744, EBI-1538450;
CC       Q91ZD4; P31016: Dlg4; Xeno; NbExp=6; IntAct=EBI-1750744, EBI-375655;
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23029439};
CC       Multi-pass membrane protein {ECO:0000269|PubMed:23029439}.
CC   -!- TISSUE SPECIFICITY: Primarily expressed in the brain and epididymis.
CC       Not detected in the cochlea of Lp mice. {ECO:0000269|PubMed:11431695,
CC       ECO:0000269|PubMed:11709546, ECO:0000269|PubMed:12724779,
CC       ECO:0000269|PubMed:16687519}.
CC   -!- DEVELOPMENTAL STAGE: In the embryo, strongly expressed in the
CC       neuroectoderm from the earliest stages of neural induction through the
CC       late stages of neural tube closure. Detected in the dorso-ventral axis
CC       of the neural tube, but not in the floor plate. Expression is low at
CC       day 7 dpc; it peaks at 11 dpc, and it remains strong at 15 dpc and 17
CC       dpc. Also expressed in the cochlear epithelium at days 14.5 dpc and
CC       16.5 dpc. Detected at low levels in the outflow tract myocardium from
CC       9.5 dpc with levels increasing by 11.5 dpc.
CC       {ECO:0000269|PubMed:11431695, ECO:0000269|PubMed:12724779,
CC       ECO:0000269|PubMed:15637299}.
CC   -!- DISEASE: Note=Defects in Vangl2 are a cause of the loop-tail (Lp)
CC       mutant phenotype. Heterozygous Lp mice exhibit a characteristic looped
CC       tail, while homozygous embryos show a completely open neural tube in
CC       the hindbrain and spinal region, a condition similar to the severe
CC       craniorachischisis defect in humans. Homozygotes also have complex
CC       cardiovascular defects including double-outlet right ventricle,
CC       perimembranous ventricular defects, double-sided aortic arch and
CC       associated abnormalities in the aortic arch arteries. Homozygotes show
CC       cytoplasmic accumulation of Vangl2 instead of the normal membrane
CC       localization, and Rhoa expression, which is detected in the mesenchymal
CC       cushion cells adjacent to the outflow tract, is lost in homozygotes.
CC       Homozygous embryos typically die shortly before or at birth.
CC       {ECO:0000269|PubMed:11440971}.
CC   -!- SIMILARITY: Belongs to the Vang family. {ECO:0000305}.
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DR   EMBL; AY035370; AAK63188.3; -; mRNA.
DR   EMBL; AF365875; AAK91927.1; -; mRNA.
DR   EMBL; BC052195; AAH52195.1; -; mRNA.
DR   CCDS; CCDS15505.1; -.
DR   RefSeq; NP_277044.1; NM_033509.4.
DR   RefSeq; XP_006497114.1; XM_006497051.3.
DR   RefSeq; XP_006497115.1; XM_006497052.3.
DR   RefSeq; XP_006497116.1; XM_006497053.3.
DR   RefSeq; XP_006497117.1; XM_006497054.3.
DR   RefSeq; XP_017168497.1; XM_017313008.1.
DR   AlphaFoldDB; Q91ZD4; -.
DR   SMR; Q91ZD4; -.
DR   BioGRID; 220314; 7.
DR   CORUM; Q91ZD4; -.
DR   IntAct; Q91ZD4; 11.
DR   MINT; Q91ZD4; -.
DR   STRING; 10090.ENSMUSP00000027837; -.
DR   iPTMnet; Q91ZD4; -.
DR   PhosphoSitePlus; Q91ZD4; -.
DR   SwissPalm; Q91ZD4; -.
DR   MaxQB; Q91ZD4; -.
DR   PaxDb; Q91ZD4; -.
DR   PRIDE; Q91ZD4; -.
DR   ProteomicsDB; 298270; -.
DR   Antibodypedia; 34278; 238 antibodies from 32 providers.
DR   DNASU; 93840; -.
DR   Ensembl; ENSMUST00000027837; ENSMUSP00000027837; ENSMUSG00000026556.
DR   Ensembl; ENSMUST00000111263; ENSMUSP00000106894; ENSMUSG00000026556.
DR   GeneID; 93840; -.
DR   KEGG; mmu:93840; -.
DR   UCSC; uc007dpi.1; mouse.
DR   CTD; 57216; -.
DR   MGI; MGI:2135272; Vangl2.
DR   VEuPathDB; HostDB:ENSMUSG00000026556; -.
DR   eggNOG; KOG3814; Eukaryota.
DR   GeneTree; ENSGT00390000012496; -.
DR   HOGENOM; CLU_015742_1_0_1; -.
DR   InParanoid; Q91ZD4; -.
DR   OrthoDB; 1325060at2759; -.
DR   TreeFam; TF313467; -.
DR   Reactome; R-MMU-9696264; RND3 GTPase cycle.
DR   Reactome; R-MMU-9696270; RND2 GTPase cycle.
DR   Reactome; R-MMU-9696273; RND1 GTPase cycle.
DR   BioGRID-ORCS; 93840; 2 hits in 73 CRISPR screens.
DR   ChiTaRS; Vangl2; mouse.
DR   PRO; PR:Q91ZD4; -.
DR   Proteomes; UP000000589; Chromosome 1.
DR   RNAct; Q91ZD4; protein.
DR   Bgee; ENSMUSG00000026556; Expressed in ventricular zone and 232 other tissues.
DR   ExpressionAtlas; Q91ZD4; baseline and differential.
DR   Genevisible; Q91ZD4; MM.
DR   GO; GO:0090651; C:apical cytoplasm; IDA:MGI.
DR   GO; GO:0016324; C:apical plasma membrane; IDA:MGI.
DR   GO; GO:0016323; C:basolateral plasma membrane; IDA:UniProtKB.
DR   GO; GO:0071944; C:cell periphery; IDA:MGI.
DR   GO; GO:0060187; C:cell pole; IDA:MGI.
DR   GO; GO:0005911; C:cell-cell junction; IDA:UniProtKB.
DR   GO; GO:0030134; C:COPII-coated ER to Golgi transport vesicle; IDA:MGI.
DR   GO; GO:0016021; C:integral component of membrane; ISS:MGI.
DR   GO; GO:0016328; C:lateral plasma membrane; IDA:MGI.
DR   GO; GO:0005886; C:plasma membrane; IDA:MGI.
DR   GO; GO:0001725; C:stress fiber; IDA:MGI.
DR   GO; GO:0009952; P:anterior/posterior pattern specification; IMP:MGI.
DR   GO; GO:0045176; P:apical protein localization; IMP:MGI.
DR   GO; GO:0001569; P:branching involved in blood vessel morphogenesis; TAS:DFLAT.
DR   GO; GO:0060947; P:cardiac vascular smooth muscle cell differentiation; TAS:DFLAT.
DR   GO; GO:0035787; P:cell migration involved in kidney development; IMP:UniProtKB.
DR   GO; GO:0090102; P:cochlea development; IGI:MGI.
DR   GO; GO:0090103; P:cochlea morphogenesis; IMP:MGI.
DR   GO; GO:0060028; P:convergent extension involved in axis elongation; IMP:MGI.
DR   GO; GO:0022007; P:convergent extension involved in neural plate elongation; IMP:MGI.
DR   GO; GO:0060029; P:convergent extension involved in organogenesis; IGI:MGI.
DR   GO; GO:0048546; P:digestive tract morphogenesis; IGI:MGI.
DR   GO; GO:0036514; P:dopaminergic neuron axon guidance; IMP:ParkinsonsUK-UCL.
DR   GO; GO:0003347; P:epicardial cell to mesenchymal cell transition; TAS:DFLAT.
DR   GO; GO:0048105; P:establishment of body hair planar orientation; IMP:MGI.
DR   GO; GO:0090162; P:establishment of epithelial cell polarity; TAS:DFLAT.
DR   GO; GO:0001736; P:establishment of planar polarity; IMP:UniProtKB.
DR   GO; GO:0090177; P:establishment of planar polarity involved in neural tube closure; IMP:MGI.
DR   GO; GO:0045197; P:establishment or maintenance of epithelial cell apical/basal polarity; IMP:MGI.
DR   GO; GO:0032835; P:glomerulus development; IMP:MGI.
DR   GO; GO:0001942; P:hair follicle development; IMP:MGI.
DR   GO; GO:0001947; P:heart looping; IMP:UniProtKB.
DR   GO; GO:0015012; P:heparan sulfate proteoglycan biosynthetic process; IMP:MGI.
DR   GO; GO:0060119; P:inner ear receptor cell development; IGI:MGI.
DR   GO; GO:0060122; P:inner ear receptor cell stereocilium organization; IMP:MGI.
DR   GO; GO:0060993; P:kidney morphogenesis; IMP:MGI.
DR   GO; GO:0060490; P:lateral sprouting involved in lung morphogenesis; IMP:MGI.
DR   GO; GO:0003149; P:membranous septum morphogenesis; IGI:MGI.
DR   GO; GO:0003150; P:muscular septum morphogenesis; IGI:MGI.
DR   GO; GO:0001843; P:neural tube closure; IMP:MGI.
DR   GO; GO:0035567; P:non-canonical Wnt signaling pathway; IMP:MGI.
DR   GO; GO:1905515; P:non-motile cilium assembly; IGI:MGI.
DR   GO; GO:0060488; P:orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis; IMP:MGI.
DR   GO; GO:0003148; P:outflow tract septum morphogenesis; TAS:DFLAT.
DR   GO; GO:0003402; P:planar cell polarity pathway involved in axis elongation; IGI:MGI.
DR   GO; GO:1904938; P:planar cell polarity pathway involved in axon guidance; IMP:ParkinsonsUK-UCL.
DR   GO; GO:0061346; P:planar cell polarity pathway involved in heart morphogenesis; IMP:MGI.
DR   GO; GO:0090179; P:planar cell polarity pathway involved in neural tube closure; IMP:MGI.
DR   GO; GO:0060489; P:planar dichotomous subdivision of terminal units involved in lung branching morphogenesis; IMP:MGI.
DR   GO; GO:0043507; P:positive regulation of JUN kinase activity; IGI:MGI.
DR   GO; GO:0036342; P:post-anal tail morphogenesis; IMP:MGI.
DR   GO; GO:0032956; P:regulation of actin cytoskeleton organization; IMP:MGI.
DR   GO; GO:0090175; P:regulation of establishment of planar polarity; IGI:MGI.
DR   GO; GO:0030111; P:regulation of Wnt signaling pathway; IMP:MGI.
DR   GO; GO:0007266; P:Rho protein signal transduction; IMP:MGI.
DR   GO; GO:0036515; P:serotonergic neuron axon guidance; IMP:ParkinsonsUK-UCL.
DR   GO; GO:0048103; P:somatic stem cell division; IMP:MGI.
DR   GO; GO:0035019; P:somatic stem cell population maintenance; IMP:MGI.
DR   GO; GO:0060071; P:Wnt signaling pathway, planar cell polarity pathway; IMP:MGI.
DR   GO; GO:0042060; P:wound healing; IGI:MGI.
DR   InterPro; IPR009539; VANGL.
DR   PANTHER; PTHR20886; PTHR20886; 1.
DR   Pfam; PF06638; Strabismus; 1.
DR   PIRSF; PIRSF007991; Strabismus; 1.
PE   1: Evidence at protein level;
KW   Cell membrane; Developmental protein; Disease variant; Membrane;
KW   Reference proteome; Transmembrane; Transmembrane helix.
FT   CHAIN           1..521
FT                   /note="Vang-like protein 2"
FT                   /id="PRO_0000186196"
FT   TOPO_DOM        1..108
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        109..129
FT                   /note="Helical; Name=1"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        130..147
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        148..168
FT                   /note="Helical; Name=2"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        169..178
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        179..199
FT                   /note="Helical; Name=3"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        200..217
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        218..238
FT                   /note="Helical; Name=4"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        239..521
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   REGION          1..81
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1..15
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        16..30
FT                   /note="Basic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VARIANT         255
FT                   /note="D -> E (in Lp)"
FT                   /evidence="ECO:0000269|PubMed:11431695"
FT   VARIANT         464
FT                   /note="S -> N (in Lp)"
FT                   /evidence="ECO:0000269|PubMed:11431695,
FT                   ECO:0000269|PubMed:11709546"
SQ   SEQUENCE   521 AA;  59771 MW;  94ECEF3EE63DF5BC CRC64;
     MDTESQYSGY SYKSGHSRSS RKHRDRRDRH RSKSRDGSRG DKSVTIQAPG EPLLDNESTR
     GDERDDNWGE TTTVVTGTSE HSISHDDLTR IAKDMEDSVP LDCSRHLGVA AGAILALLSF
     LTPLAFLLLP PLLWREELEP CGTACEGLFI SVAFKLLILL LGSWALFFRR PKASLPRVFV
     LRALLMVLVF LLVISYWLFY GVRILDARER SYQGVVQFAV SLVDALLFVH YLAVVLLELR
     QLQPQFTLKV VRSTDGASRF YNVGHLSIQR VAVWILEKYY HDFPVYNPAL LNLPKSVLAK
     KVSGFKVYSL GEENSTNNST GQSRAVIAAA ARRRDNSHNE YYYEEAEHER RVRKRRARLV
     VAVEEAFTHI KRLQEEEQKN PREVMDPREA AQAIFASMAR AMQKYLRTTK QQPYHTMESI
     LQHLEFCITH DMTPKAFLER YLAAGPTIQY HKERWLAKQW TLVSEEPVTN GLKDGIVFLL
     KRQDFSLVVS TKKVPFFKLS EEFVDPKSHK FVMRLQSETS V
 
 
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