LOCUS       NM_152490               4719 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 2
            (B3GALNT2), transcript variant 1, mRNA.
ACCESSION   NM_152490
VERSION     NM_152490.5
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 4719)
  AUTHORS   Zeng,L., Lin,L., Zhang,Y., Lin,K., Xu,Q. and Lin,C.
  TITLE     [Genetic analysis of a Chinese family affected with
            alpha-dystroglycanopathy due to variant of B3GALNT2 gene]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 40 (7), 802-806 (2023)
   PUBMED   37368380
  REMARK    GeneRIF: [Genetic analysis of a Chinese family affected with
            alpha-dystroglycanopathy due to variant of B3GALNT2 gene].
REFERENCE   2  (bases 1 to 4719)
  AUTHORS   Wang,P., Jin,P., Zhu,L., Chen,M., Qian,Y., Zeng,W., Wang,M., Xu,Y.,
            Xu,Y. and Dong,M.
  TITLE     Prenatal diagnosis of Walker-Warburg syndrome due to compound
            mutations in the B3GALNT2 gene
  JOURNAL   J Gene Med 24 (5), e3417 (2022)
   PUBMED   35338537
  REMARK    GeneRIF: Prenatal diagnosis of Walker-Warburg syndrome due to
            compound mutations in the B3GALNT2 gene.
REFERENCE   3  (bases 1 to 4719)
  AUTHORS   Chen,X.Y., Song,D.Y., Fan,Y.B., Tan,D.D., Chang,X.Z., Xiao,J.X.,
            Toda,T. and Xiong,H.
  TITLE     Novel mutations in B3GALNT2 gene causing alpha-dystroglycanopathy
            in Chinese patients
  JOURNAL   Chin Med J (Engl) 134 (12), 1483-1485 (2020)
   PUBMED   33290285
  REMARK    GeneRIF: Novel mutations in B3GALNT2 gene causing
            alpha-dystroglycanopathy in Chinese patients.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4719)
  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   5  (bases 1 to 4719)
  AUTHORS   Nakane,T., Angata,K., Sato,T., Kaji,H. and Narimatsu,H.
  TITLE     Identification of mammalian glycoproteins with type-I LacdiNAc
            structures synthesized by the glycosyltransferase B3GALNT2
  JOURNAL   J Biol Chem 294 (18), 7433-7444 (2019)
   PUBMED   30898876
  REMARK    GeneRIF: B3GALNT2 primarily transferred LDN to intracellular
            glycoproteins, thereby clearly delineating proteins that carry
            type-I or type-II LacdiNAcs
REFERENCE   6  (bases 1 to 4719)
  AUTHORS   Hedberg,C., Oldfors,A. and Darin,N.
  TITLE     B3GALNT2 is a gene associated with congenital muscular dystrophy
            with brain malformations
  JOURNAL   Eur J Hum Genet 22 (5), 707-710 (2014)
   PUBMED   24084573
  REMARK    GeneRIF: B3GALNT2 is a gene associated with congenital muscular
            dystrophy with brain malformations.
REFERENCE   7  (bases 1 to 4719)
  AUTHORS   Matsuo,T., Komatsu,M., Yoshimaru,T., Kiyotani,K., Miyoshi,Y.,
            Sasa,M. and Katagiri,T.
  TITLE     Involvement of B3GALNT2 overexpression in the cell growth of breast
            cancer
  JOURNAL   Int J Oncol 44 (2), 427-434 (2014)
   PUBMED   24285400
  REMARK    GeneRIF: B3GALNT2 overexpression is associated with breast cancer.
REFERENCE   8  (bases 1 to 4719)
  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   9  (bases 1 to 4719)
  AUTHORS   Stevens,E., Carss,K.J., Cirak,S., Foley,A.R., Torelli,S.,
            Willer,T., Tambunan,D.E., Yau,S., Brodd,L., Sewry,C.A., Feng,L.,
            Haliloglu,G., Orhan,D., Dobyns,W.B., Enns,G.M., Manning,M.,
            Krause,A., Salih,M.A., Walsh,C.A., Hurles,M., Campbell,K.P.,
            Manzini,M.C., Stemple,D., Lin,Y.Y. and Muntoni,F.
  CONSRTM   UK10K Consortium
  TITLE     Mutations in B3GALNT2 cause congenital muscular dystrophy and
            hypoglycosylation of alpha-dystroglycan
  JOURNAL   Am J Hum Genet 92 (3), 354-365 (2013)
   PUBMED   23453667
  REMARK    GeneRIF: Results demonstrate a role for B3GALNT2 in the
            glycosylation of alpha-DG and show that B3GALNT2 mutations can
            cause dystroglycanopathy with muscle and brain involvement.
REFERENCE   10 (bases 1 to 4719)
  AUTHORS   Hiruma,T., Togayachi,A., Okamura,K., Sato,T., Kikuchi,N.,
            Kwon,Y.D., Nakamura,A., Fujimura,K., Gotoh,M., Tachibana,K.,
            Ishizuka,Y., Noce,T., Nakanishi,H. and Narimatsu,H.
  TITLE     A novel human beta1,3-N-acetylgalactosaminyltransferase that
            synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc
  JOURNAL   J Biol Chem 279 (14), 14087-14095 (2004)
   PUBMED   14724282
  REMARK    GeneRIF: Although the GalNAcbeta1-3GlcNAcbeta1-R structure has not
            been reported in humans or other mammals, we have discovered a
            novel human glycosyltransferase producing this structure on N- and
            O-glycans.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC029564.1, FO393422.1,
            AB209046.1, BQ221255.1 and AW513183.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_152490.4.
            
            Summary: This gene encodes a member of the glycosyltransferase 31
            family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a
            novel carbohydrate structure, on N- and O-glycans. Alternatively
            spliced transcript variants that encode different isoforms have
            been described. [provided by RefSeq, Mar 2013].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer protein (isoform 1).
            
            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 :: BC029564.1, SRR1803612.274095.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366600.8/ ENSP00000355559.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-62                BC029564.1         30-91
            63-63               FO393422.1         96784-96784         c
            64-520              BC029564.1         93-549
            521-521             FO393422.1         81602-81602         c
            522-1980            BC029564.1         551-2009
            1981-2492           AB209046.1         1564-2075
            2493-3178           BQ221255.1         58-743
            3179-4691           AB209046.1         2761-4273
            4692-4719           AW513183.1         8-35                c
FEATURES             Location/Qualifiers
     source          1..4719
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.3"
     gene            1..4719
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /note="beta-1,3-N-acetylgalactosaminyltransferase 2"
                     /db_xref="GeneID:148789"
                     /db_xref="HGNC:HGNC:28596"
                     /db_xref="MIM:610194"
     exon            1..312
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /inference="alignment:Splign:2.1.0"
     CDS             201..1703
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /EC_number="2.4.1.313"
                     /note="isoform 1 is encoded by transcript variant 1;
                     UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase,
                     polypeptide 2;
                     UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2;
                     beta-1,3-GalNAc-T2"
                     /codon_start=1
                     /product="UDP-GalNAc:beta-1,
                     3-N-acetylgalactosaminyltransferase 2 isoform 1"
                     /protein_id="NP_689703.1"
                     /db_xref="CCDS:CCDS1606.1"
                     /db_xref="GeneID:148789"
                     /db_xref="HGNC:HGNC:28596"
                     /db_xref="MIM:610194"
                     /translation="MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPADQLALFP
                     QWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQHPTLSQRVLVKFIIGAHGCEVP
                     VEDREDPYSCKLLNITNPVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSL
                     GVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCGVQVNKLWYKPVEQFILPES
                     FEGTIVWESQDLHGLVSRNLHKVTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFI
                     YTIQEGDALLHNLHSRPQRLIDHIRNLHEEDALLKEESSIYDDIVFVDVVDTYRNVPA
                     KLLNFYRWTVETTSFNLLLKTDDDCYIDLEAVFNRIVQKNLDGPNFWWGNFRLNWAVD
                     RTGKWQELEYPSPAYPAFACGSGYVISKDIVKWLASNSGRLKTYQGEDVSMGIWMAAI
                     GPKRYQDSLWLCEKTCETGMLSSPQYSPWELTELWKLKERCGDPCRCQAR"
     exon            313..460
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /inference="alignment:Splign:2.1.0"
     exon            461..561
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /inference="alignment:Splign:2.1.0"
     exon            562..755
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /inference="alignment:Splign:2.1.0"
     exon            756..851
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /inference="alignment:Splign:2.1.0"
     exon            852..962
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /inference="alignment:Splign:2.1.0"
     exon            963..1041
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /inference="alignment:Splign:2.1.0"
     exon            1042..1225
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /inference="alignment:Splign:2.1.0"
     exon            1226..1351
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /inference="alignment:Splign:2.1.0"
     exon            1352..1511
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /inference="alignment:Splign:2.1.0"
     exon            1512..1568
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /inference="alignment:Splign:2.1.0"
     exon            1569..4719
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4668..4673
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /note="hexamer: AATAAA"
     regulatory      4689..4694
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /note="hexamer: AATAAA"
     polyA_site      4696
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
                     /note="major polyA site"
     polyA_site      4719
                     /gene="B3GALNT2"
                     /gene_synonym="B3GalNAc-T2; MDDGA11"
ORIGIN      
        1 aagccgcggc cacccgcggt ctgagggacc ggaggagcgg ggccgggagc tgcgaggagc
       61 cccccagacg tcgccgagcg cgagggcggg cgtgctcgga gtggtcgctc gtcagccgcc
      121 gcccctcagt ctccgcactt gcaggtcccc tccctctccg ccgggacgcg ggagagcccg
      181 gctcgcggcg ggggcggcca atgcgaaact ggctggtgct gctgtgcccg tgtgtgctcg
      241 gggccgcgct gcacctctgg ctgcggctgc gctccccgcc gcccgcctgc gcctccgggg
      301 ccggccctgc agatcagttg gccttatttc ctcagtggaa atctactcac tatgatgtgg
      361 tagttggcgt gttgtcagct cgcaataacc atgaacttcg aaacgtgata agaagcacct
      421 ggatgagaca tttgctacag catcccacat taagtcaacg tgtgcttgtg aagttcataa
      481 taggtgctca tggctgtgaa gtgcctgtgg aagacaggga ggatccttat tcctgtaaac
      541 tactcaacat cacaaatcca gttttgaatc aggaaattga agcgttcagt ctgtccgaag
      601 acacttcatc ggggctgcct gaggatcgag ttgtcagcgt gagtttccga gttctctacc
      661 ccatcgttat taccagtctt ggagtgttct acgatgccaa tgatgtgggt ttccagagga
      721 acatcactgt caaactttat caggcagaac aagaggaggc cctcttcatt gctcgcttca
      781 gtcctccaag ctgtggtgtg caggtgaaca agctgtggta caagcccgtg gaacaattca
      841 tcttaccaga gagctttgaa ggtacaatcg tgtgggagag ccaagacctc cacggccttg
      901 tgtcaagaaa tctccacaaa gtgacagtga atgatggagg gggagttctc agagtcatta
      961 cagctgggga gggtgcattg cctcatgaat tcttggaagg tgtggaggga gttgcaggtg
     1021 gttttatata tactattcag gaaggtgatg ctctcttaca caaccttcat tctcgccctc
     1081 aaagacttat tgatcatata aggaatctcc atgaggaaga tgccttactg aaggaggaaa
     1141 gcagcatcta tgatgatatt gtttttgtgg atgttgtcga cacttatcgt aatgttcctg
     1201 caaaattatt gaacttctat agatggactg tggaaacaac gagcttcaat ttgttgctga
     1261 agacagatga tgactgttac atagacctcg aagctgtatt taataggatt gtccaaaaga
     1321 atctggatgg gcctaatttt tggtggggaa atttcagact gaattgggca gttgaccgaa
     1381 ccggaaagtg gcaggagttg gagtacccga gccccgctta ccctgccttt gcatgtgggt
     1441 caggatatgt gatctccaag gacatcgtca agtggctggc aagcaactcg gggaggttaa
     1501 agacctatca gggtgaagat gtaagcatgg gcatctggat ggctgccata ggacctaaaa
     1561 gataccagga cagtctgtgg ctgtgtgaga agacctgtga gacaggaatg ctgtcttctc
     1621 ctcagtattc tccgtgggaa ctgacggaac tgtggaaact gaaggaacgg tgcggtgatc
     1681 cttgtcgatg tcaagcaaga taacagggac ttgaattagc agagtctaaa atcagggcag
     1741 gcaaacgata atctgagtgc aagtctgagg agtcccaggg tttagcagta gactgtatgg
     1801 tctttcaaga gagttccaga ctggcacttt cacccagaac caatgcggtg tttcttaatg
     1861 tttgcacaaa tttccttaaa aatcaacttg tactgtagca taagaaaagt ttttatttat
     1921 ctattggaag attatcagaa aaataccaag ttattttata aaagaaaaaa tatttctaaa
     1981 tcctgatgca ttgtggctaa ttagtaattc accattacct atagtttttg gttaaaactt
     2041 ggcctagttc agaaatctgt agtagtaact gagagtttga atttcaacct ggattgcagg
     2101 atagctctgt agagctaatt aggataatta tcagacaaaa aggaactcac aggaatgctg
     2161 tgtgatcatg tgatcacata tttgagcagt ggtcacttat accaaagttt ggggtttctg
     2221 gaaataatgt cagattttgt ggatctctga agtgggcaac ttgaactaac ttgaagagga
     2281 accaatatga ttctcagttc tgaaccttgg ttttaaagaa gttcatttat atggtagact
     2341 aatacccaaa ttttctttct gccatctaac ataaatcctg aaggtcacag tttagtactc
     2401 atagttttta aatgctaaag ttgtgtgagt atgaataaaa gcaaatacct ctcagggttt
     2461 tagtgccatc gggaaggata tttctaaatt ttgttgacat tttgaaagaa ttagttttgc
     2521 tttcctccta tcattgccta atgtttacct aatatgagta catttcaatc aaagctggtt
     2581 atcacagaag aagatatact cagcttaggt ataattgtag ggaaaagcat gtgattaatt
     2641 taagtactct tagaaatagt gcaactgaga agacagataa tagcatattg ttatacatag
     2701 tagaggatgt ctccccaagt ttaagggaca tttcccaaaa tgaccaacca aatcatttct
     2761 agtaaccctt taaaatagta gtttcaatag agaattccat taaaactagt cttatgacag
     2821 atattaactg tgttcagatt ttattaggct agctagtttc tttctattta atatttaaat
     2881 cttatcatga aatgcagtga tgagctgtaa aaataaatat gaaataagat cagaaaatca
     2941 ttagtaggtt caaagccttt attattgcta ttatgtataa gcctagaaat ggtcacttcc
     3001 caacaaaaaa tacatccctt gttatactta ggacaagttg taaaccccct ttgttttgac
     3061 agtagaattg ttccagtgaa tcatttattt ccggtgaacc ccagacacga taagcagtgt
     3121 ggtctttaaa ttttattagt tggttgtcac catcgcacta atagacaatc tccattttcc
     3181 acagaataaa actgtaatga ctttaggtca ttttccagct cgatttctct gcccggcttc
     3241 taaaattaga acgaaggtgg ggaaggatgt gattaagaca gatccgataa agcatgctac
     3301 acatactctt cccccacccc gtccccaggc agtagcttac ccttaaaatc aaacaaacag
     3361 acccatggtc tccatttaga atcaaactgt tgctatctag agacagttta atgtcataat
     3421 acgaggacta agcttgactt tgactttgta ttttgctggg caacttactt tgggactttc
     3481 ataggacaac agaaggtctg acacaggaac tttgagaaga cgtgacagca atcccttcac
     3541 cttttgaatt gtcatggagc ctatcaaaag acaagaaaag tccattcgtt ctctcaaatg
     3601 acagttacct gtaaaactag ctcatgtgat gagaccacag tatcattgca atgatagctg
     3661 tatctgtctt tttttttttt ttttttttga gactgactta cttacttact taagtaagtc
     3721 ttgctctgtc gcccaggctg gagtgcaatg gtgtaatctc ggctcactgc aacctccgct
     3781 tcccgggttc aaacaattct cctgcctcag cctcctgagt agctggtgcc catcaccaca
     3841 cccagctaac ttttgtattt ttagtagaga cggggtttca ccatgttggc caggctggtc
     3901 ttgaactcct gacctcgtga tccgcccgcc ctggcccccc aaagtgctgg gattacaagc
     3961 atgagcccag cgcctggctg tatctttcat tttacccaag tcactttacc caagtaagta
     4021 attaggggaa agcctgagtc ttgtaccacc tgttcatttg gggaactgtg ggaaacggag
     4081 ccaacggacc taagtgccct ttgacagtga gtttcatacc atttcagtag tgtatttctt
     4141 tcttaatctg aataaaccag aatgatactc tcagcacaga agaataaagg gagcgagtca
     4201 ttaacgtttt ctttttaaac ctttatgatg acttccttat gaattactga acgaacactg
     4261 gaatgggact caggtatcct gaggacatct ctcaactctg gccttagttc cccctctgta
     4321 aaattagggt gccaactaaa tgatctacaa ggtcccttcc agcgccgcca ttctgtaatt
     4381 acatcatgtg taactgtatt aaacatacac aagtgactgc caggcatggg aatgtaactt
     4441 ccgagtaaat gctttggttt gttcagaata cactatgaac ttctttccaa agacgggttg
     4501 tggtaaatag tggatatttt gattataaga aatagagttt ccttgaagct ttagctggag
     4561 atacagcaat agtgtggtgt tcctacaaat atcacagtgt attcaaacat atttttctat
     4621 caaaaatcat ttttgtaaaa gctgtgtgtt tttatccaac ttgtgataat aaatgttctt
     4681 tattttagaa taaaaactgg cctttttgta tgtattgaa
//
