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B3GALNT2 Gene

protein-coding   GIFtS: 46

GC01M233679
beta-1,3-N-acetylgalactosaminyltransferase 2
(Previous names: UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
B3GalNAc-T2 2
Beta-3-GalNAc-T2 3
EC 2.4.1.- 3
MGC39558 1, 2
OTTHUMP00000038285 2
Descriptions
Beta-1,3-N-acetylgalactosaminyltransferase II 3
UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase,
polypeptide 2 2
UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase,
polypeptide 2 1, 2
beta 1,3-N-acetylgalactosaminyltransferase-II (MGC39558) 2
beta-1,3-N-acetylgalactosaminyltransferase 2 2
beta-1,3-galactosaminyltransferase 2 2
External Ids
HGNC: 285961
Entrez Gene: 1487892
UniProtKB: Q8NCR03
Ensembl: ENSG000001628857
Search outside databases for aliases for B3GALNT2 gene

Previous GC identifer: GC01M231940

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0
Function: Beta-1,3-N-acetylgalactosaminyltransferase active in synthesizing a unique carbohydrate
structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl
transferase activity toward any acceptor substrate

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the B3GALNT2 gene  

Entrez Gene cytogenetic band: 1q42.3   Ensembl cytogenetic band:  1q42.3   HGNC cytogenetic band: 1q42.3

B3GALNT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M233679:     (about GC identifiers)

Start:
233,679,867 bp from pter
End:
233,734,404 bp from pter
Size:
54,538 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000001.9  NT_004836.17  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0 (See protein sequence)
Recommended Name: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2  
Size: 500 amino acids; 56704 Da
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (By
similarity)
Secondary accessions: Q59GR3 Q5TCI3 Q96AL7
Alternative splicing: 2 isoforms:  Q8NCR0-1   Q8NCR0-2   

Post-translational modifications:

  • N-glycosylated (Probable)1


  • REFSEQ proteins: NP_689703.1  

    ENSEMBL proteins: 
    ENSP00000355558 ENSP00000355559 ENSP00000315678 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse Abcam for Recombinant Proteins
    Human Recombinant Proteins from Abnova (B3GALNT2)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    4 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139 Golgi membrane IEA--
    GO:0005794 Golgi apparatus IEA--
    GO:0016020 membrane IEA--
    GO:0016021 integral to membrane IEA--
    About this table

    Antibodies for B3GALNT2: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for B3GALNT2
    Browse R&D Systems for Antibodies
    Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for B3GALNT2

    Assays for B3GALNT2: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    1 InterPro domain/family:
     IPR002659 Glyco_trans_31


       GeneDecks  B3GALNT2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry Q8NCR0

    ProtoNet protein and cluster: Q8NCR0

    1 Blocks protein family: IPB002659 Glycosyl transferase

    UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0
    Similarity: Belongs to the glycosyltransferase 31 family

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (B3GALNT2)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_152490

                  Applied Biosystems Silencer® siRNAs for B3GALNT2

                  Sigma-Aldrich siRNA for B3GALNT2  
                         Sigma-Aldrich shRNA for B3GALNT2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for B3GALNT2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_152490
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_152490
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_152490 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_152490

    UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0
    Function: Beta-1,3-N-acetylgalactosaminyltransferase active in synthesizing a unique carbohydrate
    structure, GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl
    transferase activity toward any acceptor substrate
    Biophysicochemical properties: Kinetic parameters: KM=5.4 uM for UDP-GalNAc; KM=11 mM for
    GlcNAc-beta-Bn;
    Enzyme Number (IUBMB): EC 2.4.1.- 

    2 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008378 galactosyltransferase activity IEA--
    GO:0016757 transferase activity, transferring glycosyl groups IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0
    Pathway: Protein modification; protein glycosylation


    1 Interacting protein for B3GALNT2 (ENSP000003555583) via UniProtKB, MINT, and/or STRING

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABOENSP000003135153STRING (score=.749)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486 protein amino acid glycosylation IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for B3GALNT2

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (B3GALNT2)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_152490

                  Sigma-Aldrich siRNA for B3GALNT2  
                         Sigma-Aldrich shRNA for B3GALNT2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_152490  

    REFSEQ mRNAs for B3GALNT2 gene: 

    NM_152490.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_152490  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_152490
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_152490
                                     untagged cDNA clones in CMV expression vector (see all 2): NM_152490 

    Additional cDNA sequence: 

    AB209046.1 AK091497.1 AK130297.1 AK311626.1 BC016974.1 BC029564.1 

    11 DOTS entries:

    DT.40119049  DT.112386  DT.40110379  DT.452426  DT.121438830  DT.100018607  DT.121438647  DT.95236950 
    DT.100721410  DT.100789308  DT.95124398 

    24/117 AceView cDNA sequences (see all 117 ):

    AI347669 BC029564 AL041616 BM127930 BX116951 AA971598 AL041615 NM_152490 
    CA418143 AI439682 CB137615 BQ221255 BQ774915 CA414713 AI289091 AA983214 
    AA992605 AI382500 AL046949 AA401102 AI140417 BG030855 AA052947 CB160860 

    highest scoring ESTs for B3GALNT2:

    BC016974 BC029564 BG030855 BG720764 BG721298 CN481132 AI750563 AK130297 AL041615 AL046950 

    Unigene Cluster for B3GALNT2:

    Beta-1,3-N-acetylgalactosaminyltransferase 2
    Hs.716571  [show with all ESTs]
    Unigene Representative Sequence: AB209046


    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for B3GALNT2 (see all 7 )

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
    SP1:              -                 -                 -     -     -           -           -                                                               
    SP2:                                -                 -     -     -           -                                                                           
    SP3:                                                                                                                                            -         
    SP4:              -           -     -                                                                                                                     
    SP5:                                                                          -           -     -                                                         

    About this scheme

    ECgene alternative splicing isoforms for B3GALNT2

    3 Ensembl transcripts including schematic representations:
    ENST00000366599  ENST00000366600  ENST00000313984  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    B3GALNT2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for B3GALNT2

    1 / 2 / 3

    9 probe-sets matching B3GALNT2 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    64095_at2, 3 U95-C 1 1.00 1.00 0.96 1.06 AL046950 0.60 1.00 0.82 1

    51818_s_at2, 3 U95-C 1 1.00 1.00 0.97 1.00 AW009920 0.60 1.00 0.82 1

    85823_at2, 3 U95-E 1 1.00 1.00 0.97 0.52 AI750563 0.60 1.00 0.82 1

    73536_f_at2 U95-D 1497 0.31 0.00 0.49 1.44 -- -- -- -- --

    226233_at2, 3 U133-B 1 1.00 1.00 -- -- BG112197 0.40 1.00 0.76 1

    1562391_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    226233_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1561714_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1553691_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GGAATGTAAC

    SOURCE GeneReport for Unigene cluster: Hs.716571

    UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0
    Tissue specificity: Expressed in all tissues examined, but at highest levels in testis, adipose
    tissue, skeletal muscle and ovary

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for B3GALNT2 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    B3GALNT21   -- beta-1,3-N-acetylgalactosaminyltransferase 2 89.11(n)
    92.38(a)
    479196  XM_536338.2  XP_536338.2 
    chimpanzee
    (Pan troglodytes)
    B3GALNT21   -- beta-1,3-N-acetylgalactosaminyltransferase 2 99.67(n)
    99.6(a)
    469715  XM_525099.2  XP_525099.2 
    mouse
    (Mus musculus)
    B3galnt21, 5 135
    UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, more1, 5 86.27(n)1
    88.4(a)1
    978841  NM_178640.21  NP_848755.11 
     AA6240275  AB1166555  (see all 21)
    chicken
    (Gallus gallus)
    B3GALNT21   -- beta-1,3-N-acetylgalactosaminyltransferase 2 79.94(n)
    87.53(a)
    430770  XM_419557.2  XP_419557.2 
    zebrafish
    (Danio rerio)
    b3galnt21   -- beta-1,3-N-acetylgalactosaminyltransferase 2 57.06(n)
    53.78(a)
    553716  NM_001020687.1  NP_001018523.1 
    About this table        Species with no ortholog for B3GALNT2

    ENSEMBL Gene Tree for B3GALNT2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for B3GALNT2 gene
    B3GALT62  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/287 NCBI SNPs in B3GALNT2 are shown (see all 287 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 78)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 1 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs6962471,2
    A,C,F,H233734784(+) CTCCTT/CTGTTC 1 -- ng315Minor allele frequency- C:0.34MN EU EA WA 600
    rs2913481,2
    A,F,H233734313(+) TCTGGG/AGGGCT 1 -- ut51 ese33Minor allele frequency- A:0.35MN EA 360
    rs1823661,2
    A,F233734602(+) CGAAGG/CGCGAG 1 -- ng311Minor allele frequency- C:0.33MN 184
    rs6962481,2
    A,C233735134(+) CAGCGA/CGCCTT 1 -- ng310--------
    rs2913961,2
    C,F,H,O233719136(+) GGATCC/TTCCCT 1 E/E syn17Minor allele frequency- T:0.33EU EA WA NA 558
    rs7047161,2
    A,C,F,H,O233704044(+) CACCTA/GTCTCC 1 -- int114Minor allele frequency- G:0.37MN EU EA WA NA 1342
    rs2913971,2
    A,C,F,H,O233719648(+) ACCCCT/CGTAAC 1 -- int15Minor allele frequency- C:0.37MN EU EA WA 598
    rs13055571,2
    A,C,F,H,O233694460(-) TATGAG/ACTAGA 1 -- int17Minor allele frequency- A:0.49EU EA WA NA 560
    rs2913931,2
    A,C,F,H,O233718183(+) CAAAAG/CTTCAA 1 -- int112Minor allele frequency- C:0.31EU EA WA NA 1048
    rs7047091,2
    A,C,F,H,O233687587(+) GCCACG/ATAAGA 1 -- int111Minor allele frequency- A:0.49NA EU EA WA 974
    About this table

    HapMap Linkage Disequilibrium images for B3GALNT2 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 610194

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    6 PubMed articles for B3GALNT2 gene:
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 148789 HGNC: 28596 AceView: MGC39558 Ensembl:ENSG00000162885 euGenes: HUgn148789
    ECgene: B3GALNT2 H-InvDB: B3GALNT2
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GALNT2
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for B3GALNT2:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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