LOCUS       NM_001417073            3061 bp    mRNA    linear   ROD 14-JUN-2024
DEFINITION  Mus musculus exostosin glycosyltransferase 2 (Ext2), transcript
            variant 4, mRNA.
ACCESSION   NM_001417073
VERSION     NM_001417073.1
KEYWORDS    RefSeq.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 3061)
  AUTHORS   Bachvarova,V., Dierker,T., Esko,J., Hoffmann,D., Kjellen,L. and
            Vortkamp,A.
  TITLE     Chondrocytes respond to an altered heparan sulfate composition with
            distinct changes of heparan sulfate structure and increased levels
            of chondroitin sulfate
  JOURNAL   Matrix Biol 93, 43-59 (2020)
   PUBMED   32201365
REFERENCE   2  (bases 1 to 3061)
  AUTHORS   Olde Engberink,R.H.G., de Vos,J., van Weert,A., Zhang,Y., van
            Vlies,N., van den Born,B.H., Titze,J.M., van Bavel,E. and Vogt,L.
  TITLE     Abnormal sodium and water homeostasis in mice with defective
            heparan sulfate polymerization
  JOURNAL   PLoS One 14 (7), e0220333 (2019)
   PUBMED   31365577
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3061)
  AUTHORS   Guo,W. and Roelink,H.
  TITLE     Loss of the Heparan Sulfate Proteoglycan Glypican5 Facilitates
            Long-Range Sonic Hedgehog Signaling
  JOURNAL   Stem Cells 37 (7), 899-909 (2019)
   PUBMED   30977233
  REMARK    GeneRIF: Using mouse embryonic stem cell-derived mosaic tissues
            with compartments that lack Exostosin1 and Exostosin2, or
            Glypican5, it has been shown that Shh accumulates around its source
            cells when they are surrounded by cells that have a mutated
            extracellular matrix.
REFERENCE   4  (bases 1 to 3061)
  AUTHORS   Imamura,M., Higashi,K., Yamaguchi,K., Asakura,K., Furihata,T.,
            Terui,Y., Satake,T., Maegawa,J., Yasumura,K., Ibuki,A., Akase,T.,
            Nishimura,K., Kashiwagi,K., Linhardt,R.J., Igarashi,K. and Toida,T.
  TITLE     Polyamines release the let-7b-mediated suppression of initiation
            codon recognition during the protein synthesis of EXT2
  JOURNAL   Sci Rep 6, 33549 (2016)
   PUBMED   27650265
  REMARK    GeneRIF: Let-7b-mediated suppression of initiation codon depends on
            the length of 5'-UTR of EXT2 mRNA and its suppression is inhibited
            in the presence of polyamines.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3061)
  AUTHORS   Mooij,H.L., Cabrales,P., Bernelot Moens,S.J., Xu,D.,
            Udayappan,S.D., Tsai,A.G., van der Sande,M.A., de Groot,E.,
            Intaglietta,M., Kastelein,J.J., Dallinga-Thie,G.M., Esko,J.D.,
            Stroes,E.S. and Nieuwdorp,M.
  TITLE     Loss of function in heparan sulfate elongation genes EXT1 and EXT 2
            results in improved nitric oxide bioavailability and endothelial
            function
  JOURNAL   J Am Heart Assoc 3 (6), e001274 (2014)
   PUBMED   25468659
  REMARK    GeneRIF: Heterozygous loss of function of EXT1 and EXT2 results in
            a decreased arteriolar endothelial glycocalyx but improved flow
            mediated vasodilation.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3061)
  AUTHORS   McCormick,C., Duncan,G., Goutsos,K.T. and Tufaro,F.
  TITLE     The putative tumor suppressors EXT1 and EXT2 form a stable complex
            that accumulates in the Golgi apparatus and catalyzes the synthesis
            of heparan sulfate
  JOURNAL   Proc Natl Acad Sci U S A 97 (2), 668-673 (2000)
   PUBMED   10639137
REFERENCE   7  (bases 1 to 3061)
  AUTHORS   Stickens,D. and Evans,G.A.
  TITLE     Isolation and characterization of the murine homolog of the human
            EXT2 multiple exostoses gene
  JOURNAL   Biochem Mol Med 61 (1), 16-21 (1997)
   PUBMED   9232192
REFERENCE   8  (bases 1 to 3061)
  AUTHORS   Clines,G.A., Ashley,J.A., Shah,S. and Lovett,M.
  TITLE     The structure of the human multiple exostoses 2 gene and
            characterization of homologs in mouse and Caenorhabditis elegans
  JOURNAL   Genome Res 7 (4), 359-367 (1997)
   PUBMED   9110175
REFERENCE   9  (bases 1 to 3061)
  AUTHORS   Hecht,J.T., Hogue,D., Strong,L.C., Hansen,M.F., Blanton,S.H. and
            Wagner,M.
  TITLE     Hereditary multiple exostosis and chondrosarcoma: linkage to
            chromosome II and loss of heterozygosity for EXT-linked markers on
            chromosomes II and 8
  JOURNAL   Am J Hum Genet 56 (5), 1125-1131 (1995)
   PUBMED   7726168
REFERENCE   10 (bases 1 to 3061)
  AUTHORS   Hennekam,R.C.
  TITLE     Hereditary multiple exostoses
  JOURNAL   J Med Genet 28 (4), 262-266 (1991)
   PUBMED   1856833
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL732472.16 and AL732493.17.
            
            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 :: SRR13422598.436353.1,
                                           SRR13422589.336301.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN01164142 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: upstream AUG and CDS extension
                                                is not conserved
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-182               AL732472.16        21961-22142         c
            183-254             AL732472.16        21184-21255         c
            255-374             AL732472.16        19604-19723         c
            375-940             AL732472.16        12973-13538         c
            941-1030            AL732472.16        11471-11560         c
            1031-1147           AL732472.16        5599-5715           c
            1148-1343           AL732493.17        191134-191329       c
            1344-1483           AL732493.17        188597-188736       c
            1484-1577           AL732493.17        183972-184065       c
            1578-1709           AL732493.17        155515-155646       c
            1710-1899           AL732493.17        132532-132721       c
            1900-2066           AL732493.17        123120-123286       c
            2067-2210           AL732493.17        100196-100339       c
            2211-2339           AL732493.17        97445-97573         c
            2340-2422           AL732493.17        96156-96238         c
            2423-3061           AL732493.17        88595-89233         c
FEATURES             Location/Qualifiers
     source          1..3061
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="2"
                     /map="2 51.62 cM"
     gene            1..3061
                     /gene="Ext2"
                     /note="exostosin glycosyltransferase 2"
                     /db_xref="GeneID:14043"
                     /db_xref="MGI:MGI:108050"
     exon            1..182
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     exon            183..254
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     exon            255..374
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     exon            375..940
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     CDS             405..2561
                     /gene="Ext2"
                     /EC_number="2.4.1.224"
                     /note="isoform 2 is encoded by transcript variant 4;
                     exostosin-2; multiple exostoses protein 2 homolog;
                     glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-
                     acetylglucosaminyl-proteoglycan
                     4-alpha-N-acetylglucosaminyltransferase; exostoses
                     (multiple) 2;
                     glucuronosyl-N-acetylglucosaminyl-proteoglycan
                     4-alpha-N-acetylglucosaminyltransferase"
                     /codon_start=1
                     /product="exostosin-2 isoform 2"
                     /protein_id="NP_001404002.1"
                     /db_xref="GeneID:14043"
                     /db_xref="MGI:MGI:108050"
                     /translation="MCASVKSNIRGPALIPRMKTKHRIYYVTLFSIVLLGLIATGMFQ
                     FWPHSIESSSDGGVEKRSIREVPVVRLPTDSPIPERGDLSCRMHTCFDVYRCGFNPKN
                     KIKVYIYPLKKYVDDAGVPVSSAISREYNELLTAISDSDYYTDDINRACLFVPSIDVL
                     NQNPLRIKETAQALAQLSRWDRGTNHLLFNMLPGAPPDYNTALDVPRDRALLAGGGFS
                     TWTYRQGYDVSIPVFSPLSAEMALPEKAPGPRRYFLLSSQMAIHPEYREELEALQAKH
                     QESVLVLDKCTNLSEGVLSVRKRCHQHQVFDYPQVLQEATFCTVLRGARLGQAVLSDV
                     LQAGCVPVVIADSYILPFSEVLDWKRASVVVPEEKMSDVYSILQNIPQRQIEEMQRQA
                     RWFWEAYFQSIKAIALATLQIINDRIYPYAAISYEEWNDPPAVKWASVSNPLFLPLIP
                     PQSQGFTAIVLTYDRVESLFRVITEVSKVPSLSKLLVVWNNQNKNPPEESLWPKIRVP
                     LKVVRTAENKLSNRFFPYDEIETEAVLAIDDDIIMLTSDELQFGYEVWREFPDRLVGY
                     PGRLHLWDHEMNKWKYESEWTNEVSMVLTGAAFYHKYFNYLYTYKMPGDIKNWVDTHM
                     NCEDIAMNFLVANVTGKAVIKVTPRKKFKCPECTAIDGLSLDQTHMVERSECINKFAS
                     VFGTMPLKVVEHRADPVLYKDDFPEKLKSFPNIGSL"
     exon            941..1030
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     exon            1031..1147
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     exon            1148..1343
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     exon            1344..1483
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     exon            1484..1577
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     exon            1578..1709
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     exon            1710..1899
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     exon            1900..2066
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     exon            2067..2210
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     exon            2211..2339
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     exon            2340..2422
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     exon            2423..3061
                     /gene="Ext2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3040..3045
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Ext2"
                     /note="hexamer: ATTAAA"
     polyA_site      3061
                     /gene="Ext2"
                     /note="major polyA site"
ORIGIN      
        1 agtgcgcgcc gtgtcagccg tggggaactg gaggccggcg caggcttccc cgctggctcc
       61 agggtacctg gtgctggcgg cgggctcccg tcaccgcgcg atccgacaca gccgtggctc
      121 gcggcccgcg gcaagagccg gtgacggagc gcggggccga gcgggaagcg gccggttccg
      181 agggaggttc agaagtttgt cacacagtgc tgtcaggagg atgaagtagc acatactaaa
      241 tgcacatgtg taggtctggc agagcacaga ccctgcttgt gcatctagca gtggcctgca
      301 agcatcctga aagcatgtcc tggactgact tgctcaccct cagatggcag caaggacccc
      361 atcggcagtg taaggtgtgt gaggacgagg acacctgttt cattatgtgt gcgtcagtca
      421 agtccaacat ccggggtccc gccctcatcc caaggatgaa gaccaagcac cgaatctact
      481 acgtcaccct gttctccatc gtcctcctgg gcctcatagc cacgggcatg tttcagttct
      541 ggcctcactc cattgagtcc tccagtgatg ggggtgtgga gaaacgcagc atcagggagg
      601 tgcccgtggt caggctgccc actgacagcc ccatcccaga gcggggggat ctcagctgta
      661 gaatgcatac gtgtttcgat gtctaccgct gcggcttcaa cccaaagaac aaaatcaagg
      721 tgtacatcta ccccctaaaa aagtatgtgg atgatgccgg tgttccggtg agcagcgcca
      781 tctcccggga gtacaatgaa ctgctgacgg ccatctcaga cagcgactac tacacagacg
      841 acatcaaccg ggcctgtctg ttcgtcccct ccattgacgt actaaaccag aacccccttc
      901 gaataaagga gacggcgcag gccctggccc agctttccag gtgggatcga ggaacaaatc
      961 acctgctgtt caatatgttg cctggagctc ccccagatta caacactgcc ctggatgtcc
     1021 ccagagacag ggcactgctg gctggtggcg gcttttctac ctggacttac cggcagggct
     1081 acgatgtcag cattcctgtt ttcagcccac tgtcagctga gatggctctc ccagagaaag
     1141 caccaggtcc ccggcgctac ttcctactgt cctctcagat ggccatccac cctgagtaca
     1201 gagaggaact agaagccctc caggccaaac accaagagtc agtgttagtc ttggacaaat
     1261 gcaccaatct ctcggagggc gtcctgtccg tgcgaaagcg ctgccaccag caccaggtct
     1321 tcgattaccc ccaagtgctg caggaggcta ctttttgtac ggtccttcga ggagctcggc
     1381 tgggccaggc ggtgctgagc gatgtcctac aggctggctg tgtcccagtt gtcattgcag
     1441 actcttatat tctgcctttc tctgaagttc tggactggaa gagggcatct gtggtcgttc
     1501 cagaggaaaa gatgtcagat gtgtacagca tcctgcagaa catcccacag aggcagattg
     1561 aagagatgca gagacaggca cggtggttct gggaggcata cttccagtcc attaaagcca
     1621 ttgccctggc caccctacag atcatcaatg acaggatcta tccatatgca gccatctcct
     1681 atgaagagtg gaatgaccct cctgctgtga agtgggctag tgtgagcaac ccgctcttcc
     1741 tgccgctgat cccacctcag tcccaaggct tcactgccat cgtcctcacc tacgaccgcg
     1801 tggagagcct cttccgggtc atcaccgagg tgtccaaggt gcccagtctg tccaagctgc
     1861 tggtggtctg gaataatcag aataaaaacc ctccggaaga atctctgtgg cccaaaatcc
     1921 gagttcccct gaaggttgtg aggactgcag aaaacaagct aagtaatcgt ttcttccctt
     1981 acgacgaaat cgagacagag gccgtgctgg ccatcgatga cgacatcatc atgctgacct
     2041 ctgacgagct gcagtttggt tatgaggtct ggcgggaatt tcccgaccgc ctggtgggct
     2101 acccaggccg cctgcatctc tgggaccacg agatgaacaa gtggaagtat gagtctgaat
     2161 ggaccaatga ggtgtccatg gtgctcacgg gcgcagcctt ctatcacaag tattttaatt
     2221 acctgtacac ctacaaaatg cctggagaca tcaagaactg ggtggatact cacatgaact
     2281 gtgaagatat tgccatgaat tttctggtgg ccaatgtcac agggaaagct gtcatcaagg
     2341 taaccccaag gaagaagttc aagtgtcctg agtgcacggc catcgacggg ctctccctag
     2401 accagactca catggtagag agatctgagt gcatcaacaa gtttgcttcc gtcttcggaa
     2461 cgatgcccct caaggtggtg gagcaccgag cggaccctgt cctctacaaa gatgacttcc
     2521 ccgagaaact gaagagcttc cccaacattg gcagcttatg aagcttgctg cacctcccgg
     2581 ggctccgggg tggggccagg gaggccagcc tgggtccgac ttcccaaaca cactggagct
     2641 cgttgagctg gctgcgcagc ctgctttgtc ctcccatctc cgtggactct gtgaaaatgc
     2701 caaaggaagg aagcctcagg gacaggctgc aacttggagc ccagcgcatc actctcggct
     2761 tgctggtgca gttcaccatc tcactggccc tacaactgcc ttagaggagt cagctgtcca
     2821 gttttagatc ccaggagtca cagcagagcc ttgcagtcat ttcacatgcg cagactctgg
     2881 agagagcaaa cctgccatgg gctacagatc ccaatacctc tgagggtcag aactgtgctt
     2941 gggacctgag tcatgagccc agatccacag cagagcacag gctgccaaga tgtctactga
     3001 aagtccctga tcaactcttt gttttggctt tttgatatga ttaaaattat tttttactgt
     3061 t
//
