LOCUS       NM_032806               2547 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens protein O-linked mannose
            N-acetylglucosaminyltransferase 2 (beta 1,4-) (POMGNT2), mRNA.
ACCESSION   NM_032806
VERSION     NM_032806.6
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 2547)
  AUTHORS   Imae,R., Kuwabara,N., Manya,H., Tanaka,T., Tsuyuguchi,M.,
            Mizuno,M., Endo,T. and Kato,R.
  TITLE     The structure of POMGNT2 provides new insights into the mechanism
            to determine the functional O-mannosylation site on
            alpha-dystroglycan
  JOURNAL   Genes Cells 26 (7), 485-494 (2021)
   PUBMED   33893702
  REMARK    GeneRIF: The structure of POMGNT2 provides new insights into the
            mechanism to determine the functional O-mannosylation site on
            alpha-dystroglycan.
REFERENCE   2  (bases 1 to 2547)
  AUTHORS   Halmo,S.M., Singh,D., Patel,S., Wang,S., Edlin,M., Boons,G.J.,
            Moremen,K.W., Live,D. and Wells,L.
  TITLE     Protein O-Linked Mannose beta-1,4-N-Acetylglucosaminyl-transferase
            2 (POMGNT2) Is a Gatekeeper Enzyme for Functional Glycosylation of
            alpha-Dystroglycan
  JOURNAL   J Biol Chem 292 (6), 2101-2109 (2017)
   PUBMED   27932460
  REMARK    GeneRIF: POMGNT2 when two of the conserved amino acids are
            replaced. These findings begin to define the selectivity of POMGNT2
            and suggest that this enzyme functions as a gatekeeper enzyme to
            prevent the vast majority of O-mannosylated sites on proteins from
            becoming modified with glycan structures functional for binding
            laminin globular domain-containing proteins
REFERENCE   3  (bases 1 to 2547)
  AUTHORS   Endo,Y., Dong,M., Noguchi,S., Ogawa,M., Hayashi,Y.K., Kuru,S.,
            Sugiyama,K., Nagai,S., Ozasa,S., Nonaka,I. and Nishino,I.
  TITLE     Milder forms of muscular dystrophy associated with POMGNT2
            mutations
  JOURNAL   Neurol Genet 1 (4), e33 (2015)
   PUBMED   27066570
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2547)
  AUTHORS   Ogawa,M., Nakamura,N., Nakayama,Y., Kurosaka,A., Manya,H.,
            Kanagawa,M., Endo,T., Furukawa,K. and Okajima,T.
  TITLE     GTDC2 modifies O-mannosylated alpha-dystroglycan in the endoplasmic
            reticulum to generate N-acetyl glucosamine epitopes reactive with
            CTD110.6 antibody
  JOURNAL   Biochem Biophys Res Commun 440 (1), 88-93 (2013)
   PUBMED   24041696
  REMARK    GeneRIF: GTDC2 generates CTD110.6 antibody-reactive
            N-acetylglucosamine epitopes on the O-mannosylated
            alpha-dystroglycan.
REFERENCE   5  (bases 1 to 2547)
  AUTHORS   Yoshida-Moriguchi,T., Willer,T., Anderson,M.E., Venzke,D.,
            Whyte,T., Muntoni,F., Lee,H., Nelson,S.F., Yu,L. and Campbell,K.P.
  TITLE     SGK196 is a glycosylation-specific O-mannose kinase required for
            dystroglycan function
  JOURNAL   Science 341 (6148), 896-899 (2013)
   PUBMED   23929950
REFERENCE   6  (bases 1 to 2547)
  AUTHORS   Manzini,M.C., Tambunan,D.E., Hill,R.S., Yu,T.W., Maynard,T.M.,
            Heinzen,E.L., Shianna,K.V., Stevens,C.R., Partlow,J.N., Barry,B.J.,
            Rodriguez,J., Gupta,V.A., Al-Qudah,A.K., Eyaid,W.M., Friedman,J.M.,
            Salih,M.A., Clark,R., Moroni,I., Mora,M., Beggs,A.H., Gabriel,S.B.
            and Walsh,C.A.
  TITLE     Exome sequencing and functional validation in zebrafish identify
            GTDC2 mutations as a cause of Walker-Warburg syndrome
  JOURNAL   Am J Hum Genet 91 (3), 541-547 (2012)
   PUBMED   22958903
  REMARK    GeneRIF: Using WES in consanguineous WWS-affected families, we
            found multiple deleterious mutations in GTDC2 (also known as
            AGO61). .
REFERENCE   7  (bases 1 to 2547)
  AUTHORS   Sparks,S.E., Quijano-Roy,S., Harper,A., Rutkowski,A., Gordon,E.,
            Hoffman,E.P. and Pegoraro,E.
  TITLE     Congenital Muscular Dystrophy Overview - RETIRED CHAPTER, FOR
            HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301468
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC092042.2 and BC060861.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_032806.5.
            
            Summary: This gene encodes a protein with glycosyltransferase
            activity although its function is not currently known. [provided by
            RefSeq, Sep 2012].
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803611.50168.1, BC060861.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000344697.3/ ENSP00000344125.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-47                AC092042.2         144982-145028       c
            48-1713             BC060861.1         42-1707
            1714-2547           AC092042.2         118183-119016       c
FEATURES             Location/Qualifiers
     source          1..2547
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p22.1"
     gene            1..2547
                     /gene="POMGNT2"
                     /gene_synonym="AGO61; C3orf39; GTDC2; MDDGA8; MDDGC8"
                     /note="protein O-linked mannose
                     N-acetylglucosaminyltransferase 2 (beta 1,4-)"
                     /db_xref="GeneID:84892"
                     /db_xref="HGNC:HGNC:25902"
                     /db_xref="MIM:614828"
     exon            1..244
                     /gene="POMGNT2"
                     /gene_synonym="AGO61; C3orf39; GTDC2; MDDGA8; MDDGC8"
                     /inference="alignment:Splign:2.1.0"
     exon            245..2547
                     /gene="POMGNT2"
                     /gene_synonym="AGO61; C3orf39; GTDC2; MDDGA8; MDDGC8"
                     /inference="alignment:Splign:2.1.0"
     CDS             350..2092
                     /gene="POMGNT2"
                     /gene_synonym="AGO61; C3orf39; GTDC2; MDDGA8; MDDGC8"
                     /EC_number="2.4.1.312"
                     /note="glycosyltransferase-like domain-containing protein
                     2; glycosyltransferase-like domain containing 2; protein
                     O-mannose beta-1,4-N-acetylglucosaminyltransferase 2"
                     /codon_start=1
                     /product="protein O-linked-mannose
                     beta-1,4-N-acetylglucosaminyltransferase 2"
                     /protein_id="NP_116195.2"
                     /db_xref="CCDS:CCDS2709.1"
                     /db_xref="GeneID:84892"
                     /db_xref="HGNC:HGNC:25902"
                     /db_xref="MIM:614828"
                     /translation="MHLSAVFNALLVSVLAAVLWKHVRLREHAATLEEELALSRQATE
                     PAPALRIDYPKALQILMEGGTHMVCTGRTHTDRICRFKWLCYSNEAEEFIFFHGNTSV
                     MLPNLGSRRFQPALLDLSTVEDHNTQYFNFVELPAAALRFMPKPVFVPDVALIANRFN
                     PDNLMHVFHDDLLPLFYTLRQFPGLAHEARLFFMEGWGEGAHFDLYKLLSPKQPLLRA
                     QLKTLGRLLCFSHAFVGLSKITTWYQYGFVQPQGPKANILVSGNEIRQFARFMTEKLN
                     VSHTGVPLGEEYILVFSRTQNRLILNEAELLLALAQEFQMKTVTVSLEDHTFADVVRL
                     VSNASMLVSMHGAQLVTTLFLPRGATVVELFPYAVNPDHYTPYKTLAMLPGMDLQYVA
                     WRNMMPENTVTHPERPWDQGGITHLDRAEQARILQSREVPRHLCCRNPEWLFRIYQDT
                     KVDIPSLIQTIRRVVKGRPGPRKQKWTVGLYPGKVREARCQASVHGASEARLTVSWQI
                     PWNLKYLKVREVKYEVWLQEQGENTYVPYILALQNHTFTENIKPFTTYLVWVRCIFNK
                     ILLGPFADVLVCNT"
     regulatory      2530..2535
                     /regulatory_class="polyA_signal_sequence"
                     /gene="POMGNT2"
                     /gene_synonym="AGO61; C3orf39; GTDC2; MDDGA8; MDDGC8"
                     /note="hexamer: ATTAAA"
     polyA_site      2547
                     /gene="POMGNT2"
                     /gene_synonym="AGO61; C3orf39; GTDC2; MDDGA8; MDDGC8"
                     /note="major polyA site"
ORIGIN      
        1 gcacaggctc cgcgccgggc tcgcccgccg ggcaggcgca cggcggacac ctgcgagcct
       61 ggaggtggcg gtcgctgcga acccggcggc gcggccaaac ctgtgctggc tgcctgggcc
      121 ttctgggcct cctgggccag aagctggcgc tgggggcggc ggcggggtgg gaaagcggcg
      181 ccgccgtggg gcctcctgga cgcgtcggcg gaggtggctt cgtcccgcgg agtccaggct
      241 tcaggctttc accagttctc aggatgccca tagggatggg tgaagcctgc ctggcctgtg
      301 gtgcttccca gtggccgtca tctcattagg gccccacagt ggcattagga tgcacctctc
      361 ggcggtgttc aacgccctcc tggtgtcggt gctggcagcg gtcctgtgga agcatgtgcg
      421 gctgcgtgag catgcagcca cactggagga ggagctggcc ctcagccgac aggccacaga
      481 gccagcccca gcactgagga tcgactaccc gaaggcactg cagatcctga tggagggcgg
      541 cacacacatg gtgtgcacgg gccgcacgca cacagaccgc atctgccgct tcaagtggct
      601 ctgctactcc aacgaggctg aggagttcat cttcttccat ggcaacacct ctgtcatgct
      661 gcccaacctg ggctcccggc gcttccagcc agccctgctc gacctatcca ccgtggagga
      721 ccacaacact cagtacttca acttcgtgga gctgcctgct gctgccctgc gcttcatgcc
      781 caagccggtg ttcgtgccag acgtggccct catcgccaac cgcttcaacc ccgacaacct
      841 catgcacgtc tttcatgacg acctgctgcc actcttctac accctgcggc agtttcccgg
      901 cctggcccac gaggcacggc tcttcttcat ggagggctgg ggcgagggtg cacacttcga
      961 cctctacaag ctgctcagcc ccaagcagcc tctcctgcgg gcacagctga agaccctggg
     1021 ccggctgctg tgcttctccc atgcttttgt gggcctctcc aagatcacta cctggtacca
     1081 gtatggcttt gtgcagcccc agggcccgaa ggccaacatc ctcgtctcag gcaatgagat
     1141 ccggcagttt gcacggttca tgacagaaaa gctgaacgtg agccacacag gagtccccct
     1201 aggcgaggag tacattctgg tctttagccg aacccagaac agactcattc tgaatgaggc
     1261 agagctgctg ctggcactgg cccaggagtt ccagatgaag acagtgacag tgtccctgga
     1321 ggaccacacc tttgctgatg tcgtgcggct ggtcagcaat gcctccatgc tggtcagcat
     1381 gcatggggcc cagctggtca ccaccctctt cctgccccgt ggggcaactg tggtagagct
     1441 cttcccatat gctgtcaatc ccgaccacta cactccctat aagacgctgg ccatgctgcc
     1501 tggcatggac ctccagtatg tagcctggcg gaacatgatg ccagagaaca cagtcacaca
     1561 ccctgagcgg ccctgggatc aggggggcat cacccatctg gaccgggctg agcaagcccg
     1621 tatcctgcaa agccgtgagg tcccacggca tctctgttgc cggaaccccg agtggctctt
     1681 ccgaatctac caggacacca aggtggacat cccgtccctc attcaaacca tacggcgcgt
     1741 ggtgaagggc cggccaggac cacggaagca gaagtggaca gtcggcctat atccaggcaa
     1801 ggtgcgggag gcacggtgcc aggcgtcagt gcatggcgcc tccgaggccc gcctcactgt
     1861 ctcctggcag atcccatgga accttaaata cctgaaggtg agggaggtga agtacgaggt
     1921 gtggctgcag gagcaggggg agaacaccta cgtgccttac atcctggctc tgcagaacca
     1981 caccttcact gagaacatca agcccttcac cacctacctg gtgtgggtcc gctgcatctt
     2041 caacaagatc ctcctgggac cctttgcaga tgtgctggtg tgcaacacgt agcgagcagg
     2101 ccacagcctg gcctcgggaa ggtggctcct gcagttcagc gtccctgggc ccattaatcc
     2161 cactgtggag acttctggga actatttatt gagcaggcct gtgcctccac atcatcttgt
     2221 tgtctctggg gtgtggtgtc acagcactcc tctttgccct agagataagg gacctgactt
     2281 ccccttctcc catcctgaac atttgtaccc ctggagaagt tccttagcag ggaggaggaa
     2341 gaggagagga ggaagcaaag aatcacaagg aacctctggc taggtgatcc tgatgtttcc
     2401 tactgagttt ttctggtatc cagatttctg gaaaccgagt aatcatgtac tgtttgattg
     2461 ggtggttcat ctgcttccat cccagtgaaa tttacctgta gcccagtgaa gggtgtgttt
     2521 ggaacattca ttaaatgatt ctaagca
//
