LOCUS       NM_001033025            2825 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens exostosin like glycosyltransferase 2 (EXTL2),
            transcript variant 2, mRNA.
ACCESSION   NM_001033025
VERSION     NM_001033025.3
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 2825)
  AUTHORS   Marques,C., Pocas,J., Gomes,C., Faria-Ramos,I., Reis,C.A.,
            Vives,R.R. and Magalhaes,A.
  TITLE     Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates
            heparan sulfate biosynthesis and shapes gastric cancer cell
            motility and invasion
  JOURNAL   J Biol Chem 298 (11), 102546 (2022)
   PUBMED   36181793
  REMARK    GeneRIF: Glycosyltransferases EXTL2 and EXTL3 cellular balance
            dictates heparan sulfate biosynthesis and shapes gastric cancer
            cell motility and invasion.
REFERENCE   2  (bases 1 to 2825)
  AUTHORS   Lei,J., Deng,H., Ran,Y., Lv,Y., Amhare,A.F., Wang,L., Guo,X.,
            Han,J. and Lammi,M.J.
  TITLE     Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in
            Patients with Osteoarthritis and Kashin-Beck Disease
  JOURNAL   Cartilage 13 (1_suppl), 818S-828S (2021)
   PUBMED   32517548
  REMARK    GeneRIF: Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2
            in Patients with Osteoarthritis and Kashin-Beck Disease.
REFERENCE   3  (bases 1 to 2825)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 2825)
  AUTHORS   Pu,A., Mishra,M.K., Dong,Y., Ghorbanigazar,S., Stephenson,E.L.,
            Rawji,K.S., Silva,C., Kitagawa,H., Sawcer,S. and Yong,V.W.
  TITLE     The glycosyltransferase EXTL2 promotes proteoglycan deposition and
            injurious neuroinflammation following demyelination
  JOURNAL   J Neuroinflammation 17 (1), 220 (2020)
   PUBMED   32703234
  REMARK    GeneRIF: The glycosyltransferase EXTL2 promotes proteoglycan
            deposition and injurious neuroinflammation following demyelination.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2825)
  AUTHORS   Nadanaka,S., Zhou,S., Kagiyama,S., Shoji,N., Sugahara,K.,
            Sugihara,K., Asano,M. and Kitagawa,H.
  TITLE     EXTL2, a member of the EXT family of tumor suppressors, controls
            glycosaminoglycan biosynthesis in a xylose kinase-dependent manner
  JOURNAL   J Biol Chem 288 (13), 9321-9333 (2013)
   PUBMED   23395820
  REMARK    GeneRIF: EXTL2 functions to suppress GAG biosynthesis that is
            enhanced by a xylose kinase and the EXTL2-dependent mechanism that
            regulates GAG biosynthesis might be a 'quality control system' for
            proteoglycans
REFERENCE   6  (bases 1 to 2825)
  AUTHORS   Sobhany,M., Dong,J. and Negishi,M.
  TITLE     Two-step mechanism that determines the donor binding specificity of
            human UDP-N-acetylhexosaminyltransferase
  JOURNAL   J Biol Chem 280 (25), 23441-23445 (2005)
   PUBMED   15831490
  REMARK    GeneRIF: donor binding appears to undergo two distinct steps,
            beginning with the N-acetyl group expelling water from the donor-
            enzyme complex into the bulk solvent followed by positioning of the
            donor into the binding site for interactions with the enzyme
REFERENCE   7  (bases 1 to 2825)
  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   8  (bases 1 to 2825)
  AUTHORS   Kitagawa,H., Shimakawa,H. and Sugahara,K.
  TITLE     The tumor suppressor EXT-like gene EXTL2 encodes an alpha1,
            4-N-acetylhexosaminyltransferase that transfers
            N-acetylgalactosamine and N-acetylglucosamine to the common
            glycosaminoglycan-protein linkage region. The key enzyme for the
            chain initiation of heparan sulfate
  JOURNAL   J Biol Chem 274 (20), 13933-13937 (1999)
   PUBMED   10318803
REFERENCE   9  (bases 1 to 2825)
  AUTHORS   Saito,T., Seki,N., Yamauchi,M., Tsuji,S., Hayashi,A., Kozuma,S. and
            Hori,T.
  TITLE     Structure, chromosomal location, and expression profile of EXTR1
            and EXTR2, new members of the multiple exostoses gene family
  JOURNAL   Biochem Biophys Res Commun 243 (1), 61-66 (1998)
   PUBMED   9473480
REFERENCE   10 (bases 1 to 2825)
  AUTHORS   Wuyts,W., Van Hul,W., Hendrickx,J., Speleman,F., Wauters,J., De
            Boulle,K., Van Roy,N., Van Agtmael,T., Bossuyt,P. and Willems,P.J.
  TITLE     Identification and characterization of a novel member of the EXT
            gene family, EXTL2
  JOURNAL   Eur J Hum Genet 5 (6), 382-389 (1997)
   PUBMED   9450183
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC104506.2 and AK312895.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001033025.2.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the
            same isoform (1).
            
            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 :: BC045681.1, SRR11853567.1518.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370114.8/ ENSP00000359132.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-201               AC104506.2         74125-74325
            202-1274            AK312895.1         144-1216
            1275-2825           AC104506.2         95026-96576
FEATURES             Location/Qualifiers
     source          1..2825
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p21.2"
     gene            1..2825
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /note="exostosin like glycosyltransferase 2"
                     /db_xref="GeneID:2135"
                     /db_xref="HGNC:HGNC:3516"
                     /db_xref="MIM:602411"
     exon            1..210
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /inference="alignment:Splign:2.1.0"
     exon            211..286
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /inference="alignment:Splign:2.1.0"
     CDS             282..1274
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /EC_number="2.4.1.223"
                     /note="isoform 1 is encoded by transcript variant 2;
                     glucuronyl-galactosyl-proteoglycan
                     4-alpha-N-acetylglucosaminyltransferase; processed
                     exostosin-like 2; exostoses (multiple)-like 2;
                     alpha-GalNAcT EXTL2; EXT-related protein 2;
                     alpha-1,4-N-acetylhexosaminyltransferase EXTL2"
                     /codon_start=1
                     /product="exostosin-like 2 isoform 1"
                     /protein_id="NP_001028197.1"
                     /db_xref="CCDS:CCDS775.1"
                     /db_xref="GeneID:2135"
                     /db_xref="HGNC:HGNC:3516"
                     /db_xref="MIM:602411"
                     /translation="MRCCHICKLPGRVMGIRVLRLSLVVILVLLLVAGALTALLPSVK
                     EDKMLMLRREIKSQGKSTMDSFTLIMQTYNRTDLLLKLLNHYQAVPNLHKVIVVWNNI
                     GEKAPDELWNSLGPHPIPVIFKQQTANRMRNRLQVFPELETNAVLMVDDDTLISTPDL
                     VFAFSVWQQFPDQIVGFVPRKHVSTSSGIYSYGSFEMQAPGSGNGDQYSMVLIGASFF
                     NSKYLELFQRQPAAVHALIDDTQNCDDIAMNFIIAKHIGKTSGIFVKPVNMDNLEKET
                     NSGYSGMWHRAEHALQRSYCINKLVNIYDSMPLRYSNIMISQFGFPYANYKRKI"
     exon            287..714
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /inference="alignment:Splign:2.1.0"
     exon            715..785
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /inference="alignment:Splign:2.1.0"
     exon            786..2825
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2806..2811
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /note="hexamer: AATAAA"
     polyA_site      2825
                     /gene="EXTL2"
                     /gene_synonym="EXTR2"
                     /note="major polyA site"
ORIGIN      
        1 actcggggac tgtcccttgc tccaggcgct cactttgcgg gcggcacttt ttccaggttg
       61 ttaatccagc taatggagaa ggatagatgc acgctacttg gtttagaaaa aaaaacaaaa
      121 atgagcaaac gagacgcccc ttccgtttta tgataactaa gctgcaggga aataaatcgg
      181 ctggccctac tgcaatctac tgcactcgag tgacaagtga gcctgcttct gtcaattact
      241 gaagctataa ggagattttt taaaaattaa acttcaacac aatgaggtgt tgccacatct
      301 gcaaacttcc tgggagagta atggggattc gagtgcttcg attatctttg gtggtcatcc
      361 tcgtattatt actggtagct ggtgctttga ctgccttact tcccagtgtt aaagaagaca
      421 agatgctcat gttgcgtagg gaaataaaat cccagggcaa gtccaccatg gactccttta
      481 ctctcataat gcagacgtac aacagaacag atctcttatt gaaactttta aatcattatc
      541 aggctgtacc aaatctgcac aaagtgattg tggtatggaa caatattgga gagaaggcac
      601 cagatgaatt atggaattct ctagggcccc accctatccc tgtgatcttc aaacaacaga
      661 cagcaaacag gatgagaaat cgactccagg tctttcctga actggaaacc aatgcagtgt
      721 tgatggtaga tgatgacaca ctcatcagca ccccagacct tgtttttgct ttctcagttt
      781 ggcagcaatt tcctgatcaa attgtaggat ttgttcctag aaagcacgtc tctacttcat
      841 caggtatcta cagttatgga agttttgaaa tgcaagcacc agggtctgga aatggtgacc
      901 agtactctat ggtgctgatt ggagcctcat tcttcaatag caaatatctt gaattatttc
      961 agaggcaacc tgcagctgtc catgctttga tagatgatac tcaaaactgt gatgatattg
     1021 ccatgaattt tatcattgcc aagcatattg gcaagacttc agggatattt gtgaagcctg
     1081 taaacatgga caatttggaa aaagaaacca acagtggcta ttctggaatg tggcatcgag
     1141 ctgagcacgc tctgcagagg tcttattgta taaataagct tgttaatatc tatgatagca
     1201 tgcccttaag atactccaac attatgattt cccagtttgg ttttccatat gccaactaca
     1261 aaagaaaaat ataaaagtaa aacaaacaaa aacaaacctg aaaactgctt ggcatttgag
     1321 tagcttctcc atgctatgta tttttttaag caacatcatg aattttatct actccagaag
     1381 tctctacaat agaaaaaaaa gtgcagtgct tctaggatat aaaattcaca ttacttttga
     1441 aagccaagaa gttggtctta tccagttagg tcttcttatg aagagttttc atccagggat
     1501 ataactcctt ggtcagtgat tttattgttt acatcctgag actgttctac agtttctttg
     1561 actcctggca tttgccttaa ggacctatag caagctgttt ctaggatcag aaactcaaga
     1621 gaggcatttc tctgcttttt cactaaaggt cagttgtttt aatttgaaac ctgaaatgcc
     1681 tctttagcaa aagcctgtgg tatggggtaa agccatgtaa gaagagaata gtctcagtca
     1741 catatgaaga ggaaaatttg cagctgccag tgctttcctt gtggccctgc caaccagctc
     1801 ttccaggacg aactcagtcc agcatggttt tgatgtaacc atccatgctt ttatttttgt
     1861 taagtctttt gtgactggga cagttaattt tagtagctga agaacgtcta gttgtttgct
     1921 tgatatttgt gaacatttac tgcatggatc acaaaacaat ataccctgta tttcttacac
     1981 gccacttata tgcagcaagg agtaaatgtg ttactagatt cgggtagtgc attttgtcac
     2041 tgaatctgac cttgagaatg tacattaatt cttatatttt acataatgta tgtgttgttt
     2101 aagaaatgta taaaaaacct gaaaaaaatg agtaagaact ggcagaagtt aaaacccttt
     2161 gtatcaaaag atctttattg gtagagcact ggttatcttc tggatactaa aaagttgtat
     2221 tacaaagcca aacacttgca ttcacaactt taaaaaaaga tccaaggaac tattcataat
     2281 gatgaaattt caactacata caaggaggag aaaataagaa cccagtcata acagaggaat
     2341 tctataggag tctgcatcaa ttcattctta aggttgccta ctctctgtta tgtgaattag
     2401 cgtctgtgtt tcacccattg tctgtgttta gtccttgttc accactaagg caaggaattc
     2461 ttaactaggc ctctgtttac caacttctct ttctcctcct ttccctctta ttcctccttc
     2521 tcctcttcct tcttatataa tgctagtata ttctcaaaat tgcaaagctg tgagaatatt
     2581 aaaataatca tggctaatgt tccaataatg aggtctttgt gcatttagtt ccgcatatga
     2641 tggttttttt tttacattaa agagtatatg tgtcttaatg cagtcagatt gtaaaaaaca
     2701 aaaacaaaga aactaagaat cttactaaaa atcgataatg tcagttatct gttttgtcca
     2761 atattggtag tacttttttg cctcttatga ttcctctagc agataaataa aagaaacttt
     2821 tgcca
//
