LOCUS       NM_020335               5354 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens VANGL planar cell polarity protein 2 (VANGL2), mRNA.
ACCESSION   NM_020335 XM_049695
VERSION     NM_020335.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 5354)
  AUTHORS   Lu,J., Zhang,J., Jiang,H., Hu,Z., Zhang,Y., He,L., Yang,J., Xie,Y.,
            Wu,D., Li,H., Zeng,K., Tan,P., Xiao,Q., Song,Z., Pan,C., Bai,X. and
            Yu,X.
  TITLE     Vangl2 suppresses NF-kappaB signaling and ameliorates sepsis by
            targeting p65 for NDP52-mediated autophagic degradation
  JOURNAL   Elife 12, 87935 (2024)
   PUBMED   39269442
  REMARK    GeneRIF: Vangl2 suppresses NF-kappaB signaling and ameliorates
            sepsis by targeting p65 for NDP52-mediated autophagic degradation.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5354)
  AUTHORS   Pavlovic,N., Kelam,N., Racetin,A., Filipovic,N., Pogorelic,Z.,
            Prusac,I.K. and Vukojevic,K.
  TITLE     Expression Profiles of ITGA8 and VANGL2 Are Altered in Congenital
            Anomalies of the Kidney and Urinary Tract (CAKUT)
  JOURNAL   Molecules 29 (14), 3294 (2024)
   PUBMED   39064873
  REMARK    GeneRIF: Expression Profiles of ITGA8 and VANGL2 Are Altered in
            Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5354)
  AUTHORS   Feng,X., Ye,Y., Zhang,J., Zhang,Y., Zhao,S., Mak,J.C.W., Otomo,N.,
            Zhao,Z., Niu,Y., Yonezawa,Y., Li,G., Lin,M., Li,X., Cheung,P.W.H.,
            Xu,K., Takeda,K., Wang,S., Xie,J., Kotani,T., Choi,V.N.T.,
            Song,Y.Q., Yang,Y., Luk,K.D.K., Lee,K.S., Li,Z., Li,P.S.,
            Leung,C.Y.H., Lin,X., Wang,X., Qiu,G., Watanabe,K., Wu,Z.,
            Posey,J.E., Ikegawa,S., Lupski,J.R., Cheung,J.P.Y., Zhang,T.J.,
            Gao,B. and Wu,N.
  CONSRTM   DISCO (Deciphering disorders Involving Scoliosis and COmorbidities)
            study group; Japanese Early Onset Scoliosis Research Group
  TITLE     Core planar cell polarity genes VANGL1 and VANGL2 in predisposition
            to congenital vertebral malformations
  JOURNAL   Proc Natl Acad Sci U S A 121 (18), e2310283121 (2024)
   PUBMED   38669183
  REMARK    GeneRIF: Core planar cell polarity genes VANGL1 and VANGL2 in
            predisposition to congenital vertebral malformations.
REFERENCE   4  (bases 1 to 5354)
  AUTHORS   Derrick,C.J., Szenker-Ravi,E., Santos-Ledo,A., Alqahtani,A.,
            Yusof,A., Eley,L., Coleman,A.H.L., Tohari,S., Ng,A.Y.,
            Venkatesh,B., Alharby,E., Mansard,L., Bonnet-Dupeyron,M.N.,
            Roux,A.F., Vache,C., Roume,J., Bouvagnet,P., Almontashiri,N.A.M.,
            Henderson,D.J., Reversade,B. and Chaudhry,B.
  TITLE     Functional analysis of germline VANGL2 variants using rescue assays
            of vangl2 knockout zebrafish
  JOURNAL   Hum Mol Genet 33 (2), 150-169 (2024)
   PUBMED   37815931
  REMARK    GeneRIF: Functional analysis of germline VANGL2 variants using
            rescue assays of vangl2 knockout zebrafish.
REFERENCE   5  (bases 1 to 5354)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 5354)
  AUTHORS   Devenport,D. and Fuchs,E.
  TITLE     Planar polarization in embryonic epidermis orchestrates global
            asymmetric morphogenesis of hair follicles
  JOURNAL   Nat Cell Biol 10 (11), 1257-1268 (2008)
   PUBMED   18849982
REFERENCE   7  (bases 1 to 5354)
  AUTHORS   Erdal,E., Erdal,C., Bulut,G., Kunter,I., Kir,M., Atabey,N. and
            Acikel,U.
  TITLE     Mutation analysis of the Vangl2 coding region revealed no common
            cause for Tetralogy of Fallot
  JOURNAL   J Int Med Res 35 (6), 867-872 (2007)
   PUBMED   18034999
  REMARK    GeneRIF: Results suggest that there is no specific mutation
            responsible for the Tetralogy of Fallot phenotype in the Vangl2
            gene [Vangl2].
REFERENCE   8  (bases 1 to 5354)
  AUTHORS   Yao,R., Natsume,Y. and Noda,T.
  TITLE     MAGI-3 is involved in the regulation of the JNK signaling pathway
            as a scaffold protein for frizzled and Ltap
  JOURNAL   Oncogene 23 (36), 6023-6030 (2004)
   PUBMED   15195140
REFERENCE   9  (bases 1 to 5354)
  AUTHORS   Wharton,K.A. Jr.
  TITLE     Runnin' with the Dvl: proteins that associate with Dsh/Dvl and
            their significance to Wnt signal transduction
  JOURNAL   Dev Biol 253 (1), 1-17 (2003)
   PUBMED   12490194
  REMARK    Review article
REFERENCE   10 (bases 1 to 5354)
  AUTHORS   Kibar,Z., Vogan,K.J., Groulx,N., Justice,M.J., Underhill,D.A. and
            Gros,P.
  TITLE     Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is
            altered in the mouse neural tube mutant Loop-tail
  JOURNAL   Nat Genet 28 (3), 251-255 (2001)
   PUBMED   11431695
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL445230.11, AK290981.1,
            AB033041.1 and BG059541.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020335.2.
            
            Summary: The protein encoded by this gene is a membrane protein
            involved in the regulation of planar cell polarity, especially in
            the stereociliary bundles of the cochlea. The encoded protein
            transmits directional signals to individual cells or groups of
            cells in epithelial sheets. This protein is also involved in the
            development of the neural plate. [provided by RefSeq, Sep 2011].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK290981.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368061.3/ ENSP00000357040.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-210               AL445230.11        61572-61781
            211-1421            AK290981.1         1-1211
            1422-4141           AB033041.1         1088-3807
            4142-4866           AL445230.11        88466-89190
            4867-5354           BG059541.1         12-499              c
FEATURES             Location/Qualifiers
     source          1..5354
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.2"
     gene            1..5354
                     /gene="VANGL2"
                     /gene_synonym="LPP1; LTAP; STB1; STBM; STBM1"
                     /note="VANGL planar cell polarity protein 2"
                     /db_xref="GeneID:57216"
                     /db_xref="HGNC:HGNC:15511"
                     /db_xref="MIM:600533"
     exon            1..306
                     /gene="VANGL2"
                     /gene_synonym="LPP1; LTAP; STB1; STBM; STBM1"
                     /inference="alignment:Splign:2.1.0"
     exon            307..567
                     /gene="VANGL2"
                     /gene_synonym="LPP1; LTAP; STB1; STBM; STBM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             497..2062
                     /gene="VANGL2"
                     /gene_synonym="LPP1; LTAP; STB1; STBM; STBM1"
                     /note="loop-tail-associated protein; strabismus 1; van
                     Gogh-like protein 2; loop-tail protein 1 homolog;
                     vang-like 2 (van gogh, Drosophila)"
                     /codon_start=1
                     /product="vang-like protein 2"
                     /protein_id="NP_065068.1"
                     /db_xref="CCDS:CCDS30915.1"
                     /db_xref="GeneID:57216"
                     /db_xref="HGNC:HGNC:15511"
                     /db_xref="MIM:600533"
                     /translation="MDTESQYSGYSYKSGHSRSSRKHRDRRDRHRSKSRDGGRGDKSV
                     TIQAPGEPLLDNESTRGDERDDNWGETTTVVTGTSEHSISHDDLTRIAKDMEDSVPLD
                     CSRHLGVAAGATLALLSFLTPLAFLLLPPLLWREELEPCGTACEGLFISVAFKLLILL
                     LGSWALFFRRPKASLPRVFVLRALLMVLVFLLVVSYWLFYGVRILDARERSYQGVVQF
                     AVSLVDALLFVHYLAVVLLELRQLQPQFTLKVVRSTDGASRFYNVGHLSIQRVAVWIL
                     EKYYHDFPVYNPALLNLPKSVLAKKVSGFKVYSLGEENSTNNSTGQSRAVIAAAARRR
                     DNSHNEYYYEEAEHERRVRKRRARLVVAVEEAFTHIKRLQEEEQKNPREVMDPREAAQ
                     AIFASMARAMQKYLRTTKQQPYHTMESILQHLEFCITHDMTPKAFLERYLAAGPTIQY
                     HKERWLAKQWTLVSEEPVTNGLKDGIVFLLKRQDFSLVVSTKKVPFFKLSEEFVDPKS
                     HKFVMRLQSETSV"
     exon            568..688
                     /gene="VANGL2"
                     /gene_synonym="LPP1; LTAP; STB1; STBM; STBM1"
                     /inference="alignment:Splign:2.1.0"
     exon            689..1296
                     /gene="VANGL2"
                     /gene_synonym="LPP1; LTAP; STB1; STBM; STBM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1297..1433
                     /gene="VANGL2"
                     /gene_synonym="LPP1; LTAP; STB1; STBM; STBM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1434..1569
                     /gene="VANGL2"
                     /gene_synonym="LPP1; LTAP; STB1; STBM; STBM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1570..1801
                     /gene="VANGL2"
                     /gene_synonym="LPP1; LTAP; STB1; STBM; STBM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1802..5354
                     /gene="VANGL2"
                     /gene_synonym="LPP1; LTAP; STB1; STBM; STBM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5334..5339
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VANGL2"
                     /gene_synonym="LPP1; LTAP; STB1; STBM; STBM1"
                     /note="hexamer: AATAAA"
     polyA_site      5354
                     /gene="VANGL2"
                     /gene_synonym="LPP1; LTAP; STB1; STBM; STBM1"
                     /note="major polyA site"
ORIGIN      
        1 ctgcgccgcc ggctcccgat ctgattcctg atccttgatt ccttgatcct tggtcccgcc
       61 atgggagcct gagcgccccc tattcccccc tggcccccag cccccggggc cttgaggggg
      121 aagaggcagc ggtctgggac ggagcagggg gtgaccagac tcaagaaccc ccccctcaac
      181 atcccccatc gcgcgcgctg cctgtccagg agcgccgagt tcggagcgac ccggagcgct
      241 gcggatacaa aggcgacggg ccgagcgggg cgcccgcgga gcccacccgg cagttcgcag
      301 cggcgggagc gtcgctggat tttctctgag acaagcccac ccgtccagca aaatagagtc
      361 cctcagggtg acagttgact tcctgaaggt gcctcttggc ctaaagaagc cggtgctgaa
      421 ggaggtggct gtggggcccc ccaagaggcc ccagcctgcg gccctggagc gctacaaggc
      481 gcggcgttca gacgccatgg acaccgagtc ccagtactcg ggctattcct acaagtcggg
      541 ccactcccgc agctcccgca agcacaggga ccgccgggac cgacaccgct ctaagagtcg
      601 agatgggggc cgaggggaca agtcggtgac aatccaggct cccggggagc ccctgctgga
      661 caatgagtcc acacgagggg atgagcggga tgacaactgg ggggaaacga cgacagtagt
      721 aacgggcacc tcagagcaca gcatctccca tgatgacctc acacgcatcg ccaaggacat
      781 ggaggacagt gtccctctgg actgctcccg tcacctgggt gtggcagcgg gggccaccct
      841 ggcactgctg tctttcctca cgcctctggc cttcctgctg ctgcccccac tgctgtggcg
      901 ggaggagctg gagccttgcg ggacggcctg cgagggcctc ttcatctctg tcgccttcaa
      961 gctgctcatc ctgctactgg gcagctgggc tctgttcttc cgccggccca aggcctcgct
     1021 gccccgcgtc tttgtgctgc gtgccctgct tatggtgctg gttttcctgc tcgtggtctc
     1081 ctactggctc ttctatggtg tgcgcatcct ggatgctcgg gagcgcagct accagggcgt
     1141 ggtgcagttc gccgtgtcgc tggtggacgc ccttcttttc gtgcactacc tggccgtggt
     1201 cctgctggag ctgcgccagc tccagcctca gttcacgctc aaggtcgtgc gctccaccga
     1261 cggcgccagc cgcttctaca acgttggcca tctcagcatc cagcgcgtgg cagtgtggat
     1321 cctggagaag tattaccatg acttccctgt ctacaaccct gccctcctca acctgcccaa
     1381 gtccgtcctg gccaagaaag tgtctggctt caaggtgtat tccctcggag aggaaaacag
     1441 caccaacaac tccactggcc agtctcgggc tgtgattgca gcggcagctc ggaggcggga
     1501 caacagtcac aatgagtact actatgagga ggctgagcat gagcgaaggg tgcgcaagag
     1561 gagggccagg cttgtagtgg cggtggagga ggccttcact cacattaagc ggctgcagga
     1621 agaggagcag aaaaacccca gggaggtgat ggacccccgg gaggcagccc aagccatctt
     1681 tgcatccatg gcccgtgcca tgcagaagta ccttcggacc accaagcagc agccctacca
     1741 caccatggag agcatcctgc agcaccttga attctgcatc acgcatgaca tgacgcccaa
     1801 ggccttcttg gagcgatact tggcggctgg acctaccatc cagtaccaca aggaacgctg
     1861 gctggccaaa cagtggacat tggtgagcga ggagccggtg accaacggcc tcaaggatgg
     1921 catcgttttc ctcttaaaac gccaggactt cagcctggtg gtcagcacca agaaggtccc
     1981 attcttcaaa ctctccgagg aatttgtgga tcccaagtca cacaagtttg tcatgaggct
     2041 gcagtctgag acctcagtgt gactgtgcaa cagcaggggg agtgggaaac tctggggggt
     2101 cctgaggggg tgggaggggg cttggttctc aggcccagcc acattcctgc cacccttctt
     2161 cttcttgctc tttttttttt acttgaatta acgcaccccc accttctctc ctcgcttctt
     2221 ccttatttta ccccatgtga acctggagag accatcctgc tgtcaacagt acctgggaag
     2281 gactcccacc tcaccaacaa cttttgtatt actctaggcc ctgcaggaat cagtgcctct
     2341 ctccctcttc tttccctagt cttttcccag attacagtct ctcctgaaag ggcacagggc
     2401 cctgctgatt gtactttccc ctcctgagcc ccgactcaca aatccaagtt cttaaaacat
     2461 ttctcttcag tggcccaaca gggtttctct ggggcacatg gacatgactc cagagagcca
     2521 cagtgccaaa ctcctccagg gcagcaactg gccctcctgt ccctcacccc agccacaaca
     2581 aaccctgggt tctagggcag ggatactcct gccacacagc ccgagttaga aatctccttg
     2641 ctaggagcat ttgcttccac atatatttag agcaaagaag gatcccatcc ttttcccaga
     2701 aatctccacc taatgttttt ggtttgtatg gtcacgtgac cataggcaac cacgtggaaa
     2761 ccctctgtga ccacttttcc agggacttag gggaaggtac ctttcttcca atgtgtcttc
     2821 ctaggcagcc cctgaggagg agggctgaat agatccctga ggttttggag agacccccat
     2881 cactgactcc tgctccctaa ccctaccctc actttcgtcc ccgctcttcc cagtgaagga
     2941 tggtatgtag actcctgtac agacatagtg gcttgcagac cctgacccag cccctgtggt
     3001 cttagacaaa tgtttttatt tttgtcacca gccacccctg tcctgccgcc ttctctcgac
     3061 tccagagacc tgttgcctca tctcttttgg ggaagagccg gcagctcctc ctcatcccct
     3121 gccttaagtc cagttctttg cctcaggggt ctcgtttcct tggccttcca gggtccccac
     3181 cccttttctc cctgcctgat tctctgagct ctgggctccg tctgtattgg gttgaggggc
     3241 aaggattact gccttttgta ggtacttcac ccctcacccc attttagctt ccatagtctt
     3301 tgcaccaaat ccaaattctt gataatttag atctcatttt gagcaaaatt tgctggccct
     3361 ctaataaata ttttcaatat aaatctgagc ctttgactca gacatttttg ccaaggagag
     3421 tagaattagg aagtacccat atacatccag ccaggatcca catggaggac ctttctgatg
     3481 gctgcaatga ctaggccatt cctctgagta actcacagtg tccttttgta ggcccttctt
     3541 ttccctgaaa gactggttgg tacttacctt gcagagcaca tcctgggata agatccccag
     3601 tgtctcccct gggaggctcc ccctctgtgt agcaccagcc ctgggaatga tggagcctag
     3661 tgatcggggt ttctcctgct gtcctttctg caaaagttca cttgtttacc caccgcatgc
     3721 tagagaggag ctcattggcc aatgcttacc ttgtccccaa aggggtgggt tgtggagctc
     3781 acttaggcag ggcctctggc tggggccagg gttatgagat aggcctgtat gaaatatgtc
     3841 ctgttctggg ggtctgtctc ttttcttctc ttcaaaaact ttgtgtcaga gagtcccttc
     3901 tgagtcacat aaatacctca ctatcctgga aaacagggcc tggatggtga ctggggtcat
     3961 tgcctttgtg gacaggatgg agtgtggtgt ggtctgagga gcaggttggg gtgggggaga
     4021 gggaaaggat ttgggatctt agttgctgcc ctaggttagg ggctggggag tgtttatttt
     4081 aagatcctgc catgttttta atcactgtga tttttttttc attccccttt cctaaaaaaa
     4141 attttttgcc tccaactctc taagcactaa gggctgtgcc tgagaatggt agcattttgg
     4201 tcttttgctt cagaactgtg gtatctttgt cttttttcat tattattatt attattatta
     4261 ttattattac tattgttttt taaaatgtca ggatgaattg tcagacatat ggccatgtgt
     4321 ttgtcctctg cttctcccct gtgggaagtt gtctccatgc tgtgaactgc tgtggggtgt
     4381 gcagctgact cagtccctct gagcagtttc cccactgtgt ctgtcccatc atgcgctgga
     4441 tctgctcatt ctcctgctgt gggggtatgc ccacctctta cccccttgac accatagggc
     4501 tgctgtggct gggcctcacc agcactgtct tttgtgtgac tcatggcatc ctcgttcatc
     4561 cccaccgtgc ctagcaggcc ttccttttca ccacctcgga acgcttgcct ttcctccctc
     4621 cacaacagga cgctgtgcct cagtccttca cctacctcgc cactctgcca ctgtccccat
     4681 tggtcctttc tcctaaactg gtctttgtgc tctctttgtt ttttcttatt tccctcttgt
     4741 ctctcatttt ttcttcccat tcccctccca tttcagccct taacttttct ctttcccatc
     4801 tccactcagt attccaatgg caaaccctga tgatgtaaca cctgcgatga gacatcggac
     4861 tctccggaac tttctcatct gacacgtctt tttcccaggg ttcgtacttc tcctccattg
     4921 gtcccaggct aactcccctg ttcctctgtg gtgtctgtca gtccgtctgt cttctctttc
     4981 ctctgccctt cccacagggc agtatctgct gatggattca gtcctggtgt gtgattgttg
     5041 tgatttgttc ttccgtgcgc aaaaggaaga gggctttttg agtcccttcc aagtgagatt
     5101 gtaaatgtag aattttccac tgttggatct agattttttt tccttttttt tgggggggtg
     5161 gggttacaga gctgagacct tgtgcatgca tgtagaaaat tgtaaaatgt aaattttttt
     5221 taatatataa aaagcttgtt tctacagttt gcagtggatc taaacattac ggcaatttta
     5281 ggattttttt cttaaacata ggaactaaaa ctgtacaaat tttttttata taaaataaag
     5341 acatttgact tttg
//
