LOCUS       NM_002408               2683 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens alpha-1,6-mannosyl-glycoprotein
            2-beta-N-acetylglucosaminyltransferase (MGAT2), mRNA.
ACCESSION   NM_002408
VERSION     NM_002408.4
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 2683)
  AUTHORS   Poskanzer,S.A., Schultz,M.J., Turgeon,C.T., Vidal-Folch,N.,
            Liedtke,K., Oglesbee,D., Gavrilov,D.K., Tortorelli,S., Matern,D.,
            Rinaldo,P., Bennett,J.T., Thies,J.M., Chang,I.J., Beck,A.E.,
            Raymond,K., Allenspach,E.J. and Lam,C.
  TITLE     Immune dysfunction in MGAT2-CDG: A clinical report and review of
            the literature
  JOURNAL   Am J Med Genet A 185 (1), 213-218 (2021)
   PUBMED   33044030
  REMARK    GeneRIF: Immune dysfunction in MGAT2-CDG: A clinical report and
            review of the literature.
REFERENCE   2  (bases 1 to 2683)
  AUTHORS   Miyazaki,T., Kato,T. and Park,E.Y.
  TITLE     Heterologous expression, purification and characterization of human
            beta-1,2-N-acetylglucosaminyltransferase II using a silkworm-based
            Bombyx mori nucleopolyhedrovirus bacmid expression system
  JOURNAL   J Biosci Bioeng 126 (1), 15-22 (2018)
   PUBMED   29409697
  REMARK    GeneRIF: The recombinant hGnTII was purified from silkworm larval
            hemolymph in two steps by using tandem affinity purification tags,
            with a yield of approximately 120 mug from 10 mL hemolymph, and
            exhibited glycosyltransferase activity and strict substrate
            specificity. The enzyme was found to be N-glycosylated by the
            enzymatic cleavage of glycans, while hGnTII expressed in insect
            cells had not been reported to be glycosylated.
REFERENCE   3  (bases 1 to 2683)
  AUTHORS   Kadirvelraj,R., Yang,J.Y., Sanders,J.H., Liu,L., Ramiah,A.,
            Prabhakar,P.K., Boons,G.J., Wood,Z.A. and Moremen,K.W.
  TITLE     Human N-acetylglucosaminyltransferase II substrate recognition uses
            a modular architecture that includes a convergent exosite
  JOURNAL   Proc Natl Acad Sci U S A 115 (18), 4637-4642 (2018)
   PUBMED   29666272
  REMARK    GeneRIF: These data suggest that substrate binding by MGAT2 employs
            both conserved and convergent catalytic subsite modules to provide
            substrate selectivity and catalysis. More broadly, the MGAT2
            active-site architecture demonstrates how glycosyltransferases
            create complementary modular templates for regiospecific extension
            of glycan structures in mammalian cells.
REFERENCE   4  (bases 1 to 2683)
  AUTHORS   Maszczak-Seneczko,D., Sosicka,P., Kaczmarek,B., Majkowski,M.,
            Luzarowski,M., Olczak,T. and Olczak,M.
  TITLE     UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine (SLC35A3)
            Transporters Form Glycosylation-related Complexes with Mannoside
            Acetylglucosaminyltransferases (Mgats)
  JOURNAL   J Biol Chem 290 (25), 15475-15486 (2015)
   PUBMED   25944901
  REMARK    GeneRIF: UDP-galactose (SLC35A2) and UDP-N-acetylglucosamine
            (SLC35A3) Transporters Form Glycosylation-related Complexes with
            Mannoside Acetylglucosaminyltransferases (Mgats).
REFERENCE   5  (bases 1 to 2683)
  AUTHORS   Hassinen,A., Rivinoja,A., Kauppila,A. and Kellokumpu,S.
  TITLE     Golgi N-glycosyltransferases form both homo- and heterodimeric
            enzyme complexes in live cells
  JOURNAL   J Biol Chem 285 (23), 17771-17777 (2010)
   PUBMED   20378551
  REMARK    GeneRIF: Golgi N-glycosyltransferases
            beta-1,2-N-acetylglucosaminyltransferase I,
            beta-1,2-N-acetylglucosaminyltransferase II,
            1,4-galactosyltransferase I, and alpha-2,6-sialyltransferase I form
            both homo- and heterodimeric enzyme complexes in live cells
REFERENCE   6  (bases 1 to 2683)
  AUTHORS   Cormier-Daire,V., Amiel,J., Vuillaumier-Barrot,S., Tan,J.,
            Durand,G., Munnich,A., Le Merrer,M. and Seta,N.
  TITLE     Congenital disorders of glycosylation IIa cause growth retardation,
            mental retardation, and facial dysmorphism
  JOURNAL   J Med Genet 37 (11), 875-877 (2000)
   PUBMED   11228641
  REMARK    Review article
REFERENCE   7  (bases 1 to 2683)
  AUTHORS   Chen,S.H., Zhou,S., Tan,J. and Schachter,H.
  TITLE     Transcriptional regulation of the human
            UDP-GlcNAc:alpha-6-D-mannoside
            beta-1-2-N-acetylglucosaminyltransferase II gene (MGAT2) which
            controls complex N-glycan synthesis
  JOURNAL   Glycoconj J 15 (3), 301-308 (1998)
   PUBMED   9579808
REFERENCE   8  (bases 1 to 2683)
  AUTHORS   Tan,J., Dunn,J., Jaeken,J. and Schachter,H.
  TITLE     Mutations in the MGAT2 gene controlling complex N-glycan synthesis
            cause carbohydrate-deficient glycoprotein syndrome type II, an
            autosomal recessive disease with defective brain development
  JOURNAL   Am J Hum Genet 59 (4), 810-817 (1996)
   PUBMED   8808595
REFERENCE   9  (bases 1 to 2683)
  AUTHORS   Tan,J., D'Agostaro,A.F., Bendiak,B., Reck,F., Sarkar,M.,
            Squire,J.A., Leong,P. and Schachter,H.
  TITLE     The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2-
            N-acetylglucosaminyltransferase II gene (MGAT2). Cloning of genomic
            DNA, localization to chromosome 14q21, expression in insect cells
            and purification of the recombinant protein
  JOURNAL   Eur J Biochem 231 (2), 317-328 (1995)
   PUBMED   7635144
REFERENCE   10 (bases 1 to 2683)
  AUTHORS   Sparks,S.E. and Krasnewich,D.M.
  TITLE     Congenital Disorders of N-Linked Glycosylation and Multiple Pathway
            Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301507
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI764270.1, BC006390.2,
            AK056167.1 and BQ023756.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_002408.3.
            
            Summary: The product of this gene is a Golgi enzyme catalyzing an
            essential step in the conversion of oligomannose to complex
            N-glycans. The enzyme has the typical glycosyltransferase domains:
            a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable
            signal-anchor domain, and a C-terminal catalytic domain. Mutations
            in this gene may lead to carbohydrate-deficient glycoprotein
            syndrome, type II. The coding region of this gene is intronless.
            Transcript variants with a spliced 5' UTR may exist, but their
            biological validity has not been determined. [provided by RefSeq,
            Jul 2008].
            
            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 is intronless :: SRR1163655.274800.1, SRR1660803.94310.1
                                        [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305386.4/ ENSP00000307423.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-621               BI764270.1         29-649
            622-1901            BC006390.2         626-1905
            1902-2677           AK056167.1         1689-2464
            2678-2683           BQ023756.1         18-23               c
FEATURES             Location/Qualifiers
     source          1..2683
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q21.3"
     gene            1..2683
                     /gene="MGAT2"
                     /gene_synonym="CDG2A; CDGS2; GLCNACTII; GNT-II; GNT2"
                     /note="alpha-1,6-mannosyl-glycoprotein
                     2-beta-N-acetylglucosaminyltransferase"
                     /db_xref="GeneID:4247"
                     /db_xref="HGNC:HGNC:7045"
                     /db_xref="MIM:602616"
     exon            1..2683
                     /gene="MGAT2"
                     /gene_synonym="CDG2A; CDGS2; GLCNACTII; GNT-II; GNT2"
                     /inference="alignment:Splign:2.1.0"
     CDS             471..1814
                     /gene="MGAT2"
                     /gene_synonym="CDG2A; CDGS2; GLCNACTII; GNT-II; GNT2"
                     /EC_number="2.4.1.143"
                     /note="N-glycosyl-oligosaccharide-glycoprotein
                     N-acetylglucosaminyltransferase II;
                     Beta-1,2-N-acetylglucosaminyltransferase II;
                     UDP-N-acetylglucosamine:alpha-6-D-mannoside
                     beta-1,2-N-acetylglucosaminyltransferase II; glcNAc-T II;
                     mannoside acetylglucosaminyltransferase 2; mannosyl
                     (alpha-1,6-)-glycoprotein
                     beta-1,2-N-acetylglucosaminyltransferase"
                     /codon_start=1
                     /product="alpha-1,6-mannosyl-glycoprotein
                     2-beta-N-acetylglucosaminyltransferase precursor"
                     /protein_id="NP_002399.1"
                     /db_xref="CCDS:CCDS9690.1"
                     /db_xref="GeneID:4247"
                     /db_xref="HGNC:HGNC:7045"
                     /db_xref="MIM:602616"
                     /translation="MRFRIYKRKVLILTLVVAACGFVLWSSNGRQRKNEALAPPLLDA
                     EPARGAGGRGGDHPSVAVGIRRVSNVSAASLVPAVPQPEADNLTLRYRSLVYQLNFDQ
                     TLRNVDKAGTWAPRELVLVVQVHNRPEYLRLLLDSLRKAQGIDNVLVIFSHDFWSTEI
                     NQLIAGVNFCPVLQVFFPFSIQLYPNEFPGSDPRDCPRDLPKNAALKLGCINAEYPDS
                     FGHYREAKFSQTKHHWWWKLHFVWERVKILRDYAGLILFLEEDHYLAPDFYHVFKKMW
                     KLKQQECPECDVLSLGTYSASRSFYGMADKVDVKTWKSTEHNMGLALTRNAYQKLIEC
                     TDTFCTYDDYNWDWTLQYLTVSCLPKFWKVLVPQIPRIFHAGDCGMHHKKTCRPSTQS
                     AQIESLLNNNKQYMFPETLTISEKFTVVAISPPRKNGGWGDIRDHELCKSYRRLQ"
     regulatory      1880..1885
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MGAT2"
                     /gene_synonym="CDG2A; CDGS2; GLCNACTII; GNT-II; GNT2"
                     /note="hexamer: AATAAA"
     polyA_site      1901
                     /gene="MGAT2"
                     /gene_synonym="CDG2A; CDGS2; GLCNACTII; GNT-II; GNT2"
                     /note="major polyA site"
     regulatory      2500..2505
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MGAT2"
                     /gene_synonym="CDG2A; CDGS2; GLCNACTII; GNT-II; GNT2"
                     /note="hexamer: AATAAA"
     polyA_site      2526
                     /gene="MGAT2"
                     /gene_synonym="CDG2A; CDGS2; GLCNACTII; GNT-II; GNT2"
                     /note="major polyA site"
     regulatory      2658..2663
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MGAT2"
                     /gene_synonym="CDG2A; CDGS2; GLCNACTII; GNT-II; GNT2"
                     /note="hexamer: AATAAA"
     polyA_site      2683
                     /gene="MGAT2"
                     /gene_synonym="CDG2A; CDGS2; GLCNACTII; GNT-II; GNT2"
                     /note="major polyA site"
ORIGIN      
        1 gcagttgcgg gttgtcataa cggtccccgc cggagtgagg cgaggccgcg tcgctcagtt
       61 ctggccgtct agggcccctg taaggatgag agcgcagagg acgcagggcc gctggaggcg
      121 caggtaacga agctagggtg cggttgggac cgcggctgag ctttttccgg gacccgtggt
      181 gctgaatgga gaggacggag acgaagccga gccgcggctc ctagcggcgg cgccgatgct
      241 cgagctgtag ctgccaggcg aggatgtgtg gagcgcaggc ggcgcggggt aaatgagagg
      301 tctcgggccc caggaccccc ggggcccggg atgagttagc gagggcagcc gcgggggcca
      361 gttccgaccg tgacaggcca aggcgacggc cgccgcccgc ccgccccttc cgtgcagaag
      421 cagctgctcc tttccgcgcc cgcccgcctg cgctcccggc cctggagacc atgaggttcc
      481 gcatctacaa acggaaggtg ctaatcctga cgctcgtggt ggccgcctgc ggcttcgtcc
      541 tctggagcag caatgggcga caaaggaaga acgaggccct cgccccaccg ttgctggacg
      601 ccgaacccgc gcggggtgcc ggcggccgcg gtggggacca cccctctgtg gctgtgggca
      661 tccgcagggt ctccaacgtg tcggcggctt ccctggtccc ggcggtcccc cagcccgagg
      721 cggacaacct gacgctgcgg taccggtccc tggtgtacca gctgaacttt gatcagaccc
      781 tgaggaatgt agataaggct ggcacctggg ccccccggga gctggtgctg gtggtccagg
      841 tgcataaccg gcccgaatac ctcagactgc tgctggactc acttcgaaaa gcccagggaa
      901 ttgacaacgt cctcgtcatc tttagccatg acttctggtc gaccgagatc aatcagctga
      961 tcgccggggt gaatttctgt ccggttctgc aggtgttctt tcctttcagc attcagttgt
     1021 accctaacga gtttccaggt agtgacccta gagattgtcc cagagacctg ccgaagaatg
     1081 ccgctttgaa attggggtgc atcaatgctg agtatcccga ctccttcggc cattatagag
     1141 aggccaaatt ctcccagacc aaacatcact ggtggtggaa gctgcatttt gtgtgggaaa
     1201 gagtgaaaat tcttcgagat tatgctggcc ttatactttt cctagaagag gatcactact
     1261 tagccccaga cttttaccat gtcttcaaaa agatgtggaa actgaagcag caagagtgcc
     1321 ctgaatgtga tgttctctcc ctggggacct atagtgccag tcgcagtttc tatggcatgg
     1381 ctgacaaggt agatgtgaaa acttggaaat ccacagagca caatatgggt ctagccttga
     1441 cccggaatgc ctatcagaag ctgatcgagt gcacagacac tttctgtact tatgatgatt
     1501 ataactggga ctggactctt caatacttga ctgtatcttg tcttccaaaa ttctggaaag
     1561 tgctggttcc tcaaattcct aggatctttc atgctggaga ctgtggtatg catcacaaga
     1621 aaacctgtag accatccact cagagtgccc aaattgagtc actcttaaat aataacaaac
     1681 aatacatgtt tccagaaact ctaactatca gtgaaaagtt tactgtggta gccatttccc
     1741 cacctagaaa aaatggaggg tggggagata ttagggacca tgaactctgt aaaagttata
     1801 gaagactgca gtgaaaatca cagttacaaa agcgacagtc ttctattttt gatatttgtc
     1861 caaacaggac atacaattga ataaaagagt ttaggaactg gtttctgctt taatacaaaa
     1921 acaaaatctt gtaaaaggtg tccaaataca tagtaatctt ttccagttat gtctgattaa
     1981 gatttaaaac tgaaggtttc attttgggag tagggtttta aagctcaatc tgttatctgc
     2041 taaaattgat tattgttgat atgagagaag aggggaaatt ttatttaaat tgcatttatt
     2101 aatcttttta tctgaaactt tgtacacttt tccactttca aaacctattt taagtacagc
     2161 aaaatttatt taaaactgtc atagcagtaa aaagtattac gatgaaattg ttagggtatt
     2221 aatggaacaa acccagtttc actctcttga cacacttatt aggaagggat tgcttcactg
     2281 gtttaataat ttaaaagtta tgtttgttaa acaccctgtc agaacagtca ttttcagtat
     2341 tagattcctg tactattgtg ttttgagtgt gttttggaac cttcatagaa cacactttct
     2401 tttggaatgt atttgattga taagaaagtt taaacattgt tttcacctca atgtagaaat
     2461 acagtggttt tgtttttttt tttcttttag tgctgacaaa ataaaatact catttttgca
     2521 taaaaaggtt cctaatcctt ttgcagaata agttttgttt actctttata ccaaaattca
     2581 gtgaaggcat tctacaagtt ttgagttagc attacatttt aatatttact attgctacat
     2641 tgtataattg agtttgaaat aaaacccagc ttatgacaat gca
//
