LOCUS       NM_003780               2193 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens beta-1,4-galactosyltransferase 2 (B4GALT2), transcript
            variant 2, mRNA.
ACCESSION   NM_003780
VERSION     NM_003780.5
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 2193)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 2193)
  AUTHORS   Pallet,N., Belleville-Rolland,T., Savalle,A., Lejeune,M., Mauge,L.,
            Bertil,S., Loriot,M.A. and Gaussem,P.
  TITLE     Beta-1,4-galactosyltransferase 2 c.909C>T gene variant is
            predictive of on-clopidogrel platelet reactivity
  JOURNAL   Pharmacogenomics 19 (12), 937-945 (2018)
   PUBMED   30020015
  REMARK    GeneRIF: In individuals under dual antiplatelet therapy, B4GALT2
            c.909C>T is an independent genetic predictor of on-treatment
            platelet reactivity.
REFERENCE   3  (bases 1 to 2193)
  AUTHORS   Venkitachalam,S., Revoredo,L., Varadan,V., Fecteau,R.E., Ravi,L.,
            Lutterbaugh,J., Markowitz,S.D., Willis,J.E., Gerken,T.A. and
            Guda,K.
  TITLE     Biochemical and functional characterization of
            glycosylation-associated mutational landscapes in colon cancer
  JOURNAL   Sci Rep 6, 23642 (2016)
   PUBMED   27004849
  REMARK    GeneRIF: Study provides evidence that mutations in B3GNT2, B4GALT2,
            and ST6GALNAC2 underlie aberrant glycosylation, and contribute to
            the pathogenesis of molecular subsets of colon and other
            gastrointestinal malignancies.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2193)
  AUTHORS   Brockhausen,I., Dowler,T. and Paulsen,H.
  TITLE     Site directed processing: role of amino acid sequences and
            glycosylation of acceptor glycopeptides in the assembly of extended
            mucin type O-glycan core 2
  JOURNAL   Biochim Biophys Acta 1790 (10), 1244-1257 (2009)
   PUBMED   19524017
  REMARK    GeneRIF: Data show that Beta4-Gal-transferase (beta4GalT) extends
            core 2 and forms the backbone structure for biologically important
            epitopes.
REFERENCE   5  (bases 1 to 2193)
  AUTHORS   Zhou,J., Wei,Y., Liu,D., Ge,X., Zhou,F., Jiang,X.Y. and Gu,J.
  TITLE     Identification of beta1,4GalT II as a target gene of p53-mediated
            HeLa cell apoptosis
  JOURNAL   J Biochem 143 (4), 547-554 (2008)
   PUBMED   18211920
  REMARK    GeneRIF: results suggested that beta1,4GalT II might serve as a
            target gene of p53 transcription factor during adriamycin-induced
            HeLa cell apoptosis, which elucidated a new mechanism of
            p53-mediated cell apoptosis
REFERENCE   6  (bases 1 to 2193)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Behal,A., Touchman,J.W.,
            Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and
            splice variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2193)
  AUTHORS   Guo,S., Sato,T., Shirane,K. and Furukawa,K.
  TITLE     Galactosylation of N-linked oligosaccharides by human
            beta-1,4-galactosyltransferases I, II, III, IV, V, and VI expressed
            in Sf-9 cells
  JOURNAL   Glycobiology 11 (10), 813-820 (2001)
   PUBMED   11588157
REFERENCE   8  (bases 1 to 2193)
  AUTHORS   Amado,M., Almeida,R., Schwientek,T. and Clausen,H.
  TITLE     Identification and characterization of large galactosyltransferase
            gene families: galactosyltransferases for all functions
  JOURNAL   Biochim Biophys Acta 1473 (1), 35-53 (1999)
   PUBMED   10580128
  REMARK    Review article
REFERENCE   9  (bases 1 to 2193)
  AUTHORS   Lo,N.W., Shaper,J.H., Pevsner,J. and Shaper,N.L.
  TITLE     The expanding beta 4-galactosyltransferase gene family: messages
            from the databanks
  JOURNAL   Glycobiology 8 (5), 517-526 (1998)
   PUBMED   9597550
REFERENCE   10 (bases 1 to 2193)
  AUTHORS   Almeida,R., Amado,M., David,L., Levery,S.B., Holmes,E.H., Merkx,G.,
            van Kessel,A.G., Rygaard,E., Hassan,H., Bennett,E. and Clausen,H.
  TITLE     A family of human beta4-galactosyltransferases. Cloning and
            expression of two novel UDP-galactose:beta-n-acetylglucosamine
            beta1, 4-galactosyltransferases, beta4Gal-T2 and beta4Gal-T3
  JOURNAL   J Biol Chem 272 (51), 31979-31991 (1997)
   PUBMED   9405390
  REMARK    Erratum:[J Biol Chem 1998 Jul 17;273(29):18674]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL535811.3, AK095873.1 and
            BC096821.1.
            
            On Aug 13, 2020 this sequence version replaced NM_003780.4.
            
            Summary: This gene is one of seven beta-1,4-galactosyltransferase
            (beta4GalT) genes. They encode type II membrane-bound glycoproteins
            that appear to have exclusive specificity for the donor substrate
            UDP-galactose; all transfer galactose in a beta1,4 linkage to
            similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a
            distinct function in the biosynthesis of different glycoconjugates
            and saccharide structures. As type II membrane proteins, they have
            an N-terminal hydrophobic signal sequence that directs the protein
            to the Golgi apparatus and which then remains uncleaved to function
            as a transmembrane anchor. By sequence similarity, the beta4GalTs
            form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and
            beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme
            encoded by this gene synthesizes N-acetyllactosamine in glycolipids
            and glycoproteins. Its substrate specificity is affected by
            alpha-lactalbumin but it is not expressed in lactating mammary
            tissue. Three transcript variants encoding two different isoforms
            have been found for this gene. [provided by RefSeq, Jul 2011].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            coding sequence compared to variant 1. The resulting isoform (b) is
            shorter at the N-terminus compared to isoform a. Variants 2 and 3
            both encode isoform b.
            
            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 :: BC096821.1, SRR18074967.3258074.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1970526
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372324.6/ ENSP00000361399.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-854               AL535811.3         33-886
            855-1554            AK095873.1         1291-1990
            1555-2193           BC096821.1         1331-1969
FEATURES             Location/Qualifiers
     source          1..2193
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.1"
     gene            1..2193
                     /gene="B4GALT2"
                     /gene_synonym="B4Gal-T2; B4Gal-T3; beta4Gal-T2"
                     /note="beta-1,4-galactosyltransferase 2"
                     /db_xref="GeneID:8704"
                     /db_xref="HGNC:HGNC:925"
                     /db_xref="MIM:604013"
     exon            1..302
                     /gene="B4GALT2"
                     /gene_synonym="B4Gal-T2; B4Gal-T3; beta4Gal-T2"
                     /inference="alignment:Splign:2.1.0"
     exon            303..667
                     /gene="B4GALT2"
                     /gene_synonym="B4Gal-T2; B4Gal-T3; beta4Gal-T2"
                     /inference="alignment:Splign:2.1.0"
     CDS             355..1473
                     /gene="B4GALT2"
                     /gene_synonym="B4Gal-T2; B4Gal-T3; beta4Gal-T2"
                     /EC_number="2.4.1.22"
                     /EC_number="2.4.1.90"
                     /EC_number="2.4.1.38"
                     /note="isoform b is encoded by transcript variant 2;
                     beta-4-GalT2; beta-N-acetylglucosaminyl-glycolipid
                     beta-1,4-galactosyltransferase 2; UDP-Gal:betaGlcNAc beta
                     1,4- galactosyltransferase 2; UDP-Gal:betaGlcNAc beta
                     1,4-galactosyltransferase, polypeptide 2; beta-1,4-GalTase
                     2; UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 2;
                     UDP-galactose:beta-N-acetylglucosamine
                     beta-1,4-galactosyltransferase 2; nal synthase; lactose
                     synthase A protein; N-acetyllactosamine synthase;
                     beta-N-acetylglucosaminylglycopeptide
                     beta-1,4-galactosyltransferase"
                     /codon_start=1
                     /product="beta-1,4-galactosyltransferase 2 isoform b"
                     /protein_id="NP_003771.1"
                     /db_xref="CCDS:CCDS506.1"
                     /db_xref="GeneID:8704"
                     /db_xref="HGNC:HGNC:925"
                     /db_xref="MIM:604013"
                     /translation="MSRLLGGTLERVCKAVLLLCLLHFLVAVILYFDVYAQHLAFFSR
                     FSARGPAHALHPAASSSSSSSNCSRPNATASSSGLPEVPSALPGPTAPTLPPCPDSPP
                     GLVGRLLIEFTSPMPLERVQRENPGVLMGGRYTPPDCTPAQTVAVIIPFRHREHHLRY
                     WLHYLHPILRRQRLRYGVYVINQHGEDTFNRAKLLNVGFLEALKEDAAYDCFIFSDVD
                     LVPMDDRNLYRCGDQPRHFAIAMDKFGFRLPYAGYFGGVSGLSKAQFLRINGFPNEYW
                     GWGGEDDDIFNRISLTGMKISRPDIRIGRYRMIKHDRDKHNEPNPQRFTKIQNTKLTM
                     KRDGIGSVRYQVLEVSRQPLFTNITVDIGRPPSWPPRG"
     exon            668..903
                     /gene="B4GALT2"
                     /gene_synonym="B4Gal-T2; B4Gal-T3; beta4Gal-T2"
                     /inference="alignment:Splign:2.1.0"
     exon            904..1094
                     /gene="B4GALT2"
                     /gene_synonym="B4Gal-T2; B4Gal-T3; beta4Gal-T2"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1217
                     /gene="B4GALT2"
                     /gene_synonym="B4Gal-T2; B4Gal-T3; beta4Gal-T2"
                     /inference="alignment:Splign:2.1.0"
     exon            1218..1322
                     /gene="B4GALT2"
                     /gene_synonym="B4Gal-T2; B4Gal-T3; beta4Gal-T2"
                     /inference="alignment:Splign:2.1.0"
     exon            1323..2193
                     /gene="B4GALT2"
                     /gene_synonym="B4Gal-T2; B4Gal-T3; beta4Gal-T2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2175..2180
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B4GALT2"
                     /gene_synonym="B4Gal-T2; B4Gal-T3; beta4Gal-T2"
                     /note="hexamer: AGTAAA"
     polyA_site      2193
                     /gene="B4GALT2"
                     /gene_synonym="B4Gal-T2; B4Gal-T3; beta4Gal-T2"
                     /note="major polyA site"
ORIGIN      
        1 gcccctccga ggcgccgtag cgcgggaggg aggcggcggc gctgtggtcc gtgggtccgc
       61 cggtccgtgg gtctgcccgg ccgcccggcc ccgccctgcc ccccggggcg gctcggctcc
      121 atggcccgcg gcggcggcgg cggcggcggc ggcgggaggc gacccggggg ccgcggtggc
      181 cgctgaccgg gcggcgggag gcggcggggc cgggccatgg gggacggaac cgtccgcagc
      241 cgccggagcc gggagccctg cccaagtcgg agcggcgtcc cctgctgagc cccgagcgcc
      301 gggccagcag ccggatgccc gggcccactg ggcgggccag tggccgcctg cgggatgagc
      361 agactgctgg gggggacgct ggagcgcgtc tgcaaggctg tgctccttct ctgcctgctg
      421 cacttcctcg tggccgtcat cctctacttt gacgtctacg cccagcacct ggccttcttc
      481 agccgcttca gtgcccgagg ccctgcccat gccctccacc cagctgctag cagcagcagc
      541 agcagcagca actgctcccg gcccaacgcc accgcctcta gctccgggct ccctgaggtc
      601 cccagtgccc tgcccggtcc cacggctccc acgctgccac cctgtcctga ctcgccacct
      661 ggtcttgtgg gcagactgct gatcgagttc acctcaccca tgcccctgga gcgggtgcag
      721 agggagaacc caggcgtgct catgggcggc cgatacacac cgcccgactg caccccagcc
      781 cagacggtgg cggtcatcat cccctttaga caccgggaac accacctgcg ctactggctc
      841 cactatctac accccatctt gaggcggcag cggctgcgct acggcgtcta tgtcatcaac
      901 cagcatggtg aggacacctt caaccgggcc aagctgctta acgtgggctt cctagaggcg
      961 ctgaaggagg atgccgccta tgactgcttc atcttcagcg atgtggacct ggtccccatg
     1021 gatgaccgca acctataccg ctgcggcgac caaccccgcc actttgccat tgccatggac
     1081 aagtttggct tccggcttcc ctatgctggc tactttggag gtgtgtcagg cctgagtaag
     1141 gctcagtttc tgagaatcaa tggcttcccc aatgagtact ggggctgggg tggcgaggat
     1201 gatgacatct tcaaccggat ctccctgact gggatgaaga tctcacgccc agacatccga
     1261 atcggccgct accgcatgat caagcacgac cgcgacaagc ataacgaacc taaccctcag
     1321 aggtttacca agattcaaaa cacgaagctg accatgaagc gggacggcat tgggtcagtg
     1381 cggtaccagg tcttggaggt gtctcggcaa ccactcttca ccaatatcac agtggacatt
     1441 gggcggcctc cgtcgtggcc ccctcggggc tgacactaat ggacagaggc tctcggtgcc
     1501 gaagattgcc tgccagagga ctgaccacag cctggctggc agctgctctg tggaggacct
     1561 ccaggactga gactgggctc tgttttccaa gggtcttcac taggccccct agctacacct
     1621 ggaagtttca gaacccactt tggggggcct cctgcctggg caggctcttc aagtgtggcc
     1681 ctctttggag tcaaccctcc ttcccgaccc cctcccccta gcccagcccc agtcactgtc
     1741 agggtcgggc cagcccctgc actgcctcgc agagtggcct gggctaggtc actccacctc
     1801 tctgtgcctc agtttccccc ccttgagtcc cctagggcct ggaagggtgg gaggtatgtc
     1861 tagggggcag tgtctcttcc agggggaatt ctcagctctt gggaaccccc ttgctcccag
     1921 gggaggggaa acctttttca ttcaacattg tagggggcaa gctttggtgc gccccctgct
     1981 gaggagcagc cccaggaggg gaccagaggg gatgctgtgt cgctgcctgg gatcttgggg
     2041 ttggcctttg catgggaggc aggtggggct tggatcagta agtctggttc ccgcctccct
     2101 gtctgagaga ggaggcagga gccccagggc cggcttgtgt ttgtacattg cacagaaact
     2161 tgtgtgggtg ctttagtaaa aaacgtgaat gga
//
