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B4GALT2 Gene

protein-coding   GIFtS: 64
GCID: GC01P044444

UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 21 2     Beta-N-Acetylglucosaminyl-Glycolipid Beta-1,4-Galactosyltransferase 22
Beta-1,4-GalTase 22 3     beta4Gal-T22
UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 22 3     UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase 22
UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 22 3     UDP-Gal:BetaGlcNAc Beta 1,4-Galactosyltransferase, Polypeptide 22
B4Gal-T22     Beta4Gal-T23
B4Gal-T32     EC 2.4.1.-3
Beta-1,4-Galactosyltransferase 22     b4Gal-T23
beta-4-GalT22     

External Ids:    HGNC: 9251   Entrez Gene: 87042   Ensembl: ENSG000001174117   OMIM: 6040135   UniProtKB: O609093   

Export aliases for B4GALT2 gene to outside databases

Previous GC identifers: GC01P044283 GC01P043445 GC01P043875 GC01P043858 GC01P044114 GC01P044217 GC01P042560


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for B4GALT2 Gene:
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)

GeneCards Summary for B4GALT2 Gene:
B4GALT2 (UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2) is a protein-coding gene. Diseases associated with B4GALT2 include morquio syndrome b, and sly syndrome. GO annotations related to this gene include N-acetyllactosamine synthase activity and galactosyltransferase activity. An important paralog of this gene is B4GALT5.

UniProtKB/Swiss-Prot: B4GT2_HUMAN, O60909
Function: Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as
the carbohydrate moieties of glycolipids. Can produce lactose

Gene Wiki entry for B4GALT2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the B4GALT2 gene promoter:
         E2F-3a   E2F-4   FAC1   E2F   E2F-1   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidB4GALT2 promoter sequence
   Search Chromatin IP Primers for B4GALT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat B4GALT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34-p33   Ensembl cytogenetic band:  1p34.1   HGNC cytogenetic band: 1p34-p33

B4GALT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B4GALT2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P044444:  view genomic region     (about GC identifiers)

Start:
44,444,615 bp from pter      End:
44,456,843 bp from pter
Size:
12,229 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: B4GT2_HUMAN, O60909 (See protein sequence)
Recommended Name: Beta-1,4-galactosyltransferase 2  
Size: 372 amino acids; 41972 Da
Cofactor: Manganese (By similarity)
Secondary accessions: B3KTP0 B4DE14 D3DPY6 D3DPY7 O60511 Q4V9L9 Q5T4X5 Q5T4Y5 Q9BUP6 Q9NSY7
Alternative splicing: 3 isoforms:  O60909-1   O60909-2   O60909-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for B4GALT2: NX_O60909

Explore proteomics data for B4GALT2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn66, Asn71, Asn357
  • Modification sites at PhosphoSitePlus

  • See B4GALT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001005417.1  NP_003771.1  NP_085076.2  

    ENSEMBL proteins: 
     ENSP00000407468   ENSP00000349293   ENSP00000310696   ENSP00000361399  
    Reactome Protein details: O60909

    B4GALT2 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    B4GT: Beta 4-glycosyltransferases

    3 InterPro protein domains:
     IPR003859 Galactosyl_T
     IPR027995 Glyco_transf_7N
     IPR027791 Galactosyl_T_C

    Graphical View of Domain Structure for InterPro Entry O60909

    ProtoNet protein and cluster: O60909

    1 Blocks protein domain: IPB003859 Metazoa galactosyltransferase

    UniProtKB/Swiss-Prot: B4GT2_HUMAN, O60909
    Similarity: Belongs to the glycosyltransferase 7 family


    B4GALT2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: B4GT2_HUMAN, O60909
    Function: Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as
    the carbohydrate moieties of glycolipids. Can produce lactose
    Catalytic activity: UDP-alpha-D-galactose + D-glucose = UDP + lactose
    Catalytic activity: UDP-alpha-D-galactose + N-acetyl-beta-D-glucosaminylglycopeptide = UDP +
    beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminylglycopeptide
    Catalytic activity: UDP-alpha-D-galactose + N-acetyl-D-glucosamine = UDP + N-acetyllactosamine
    Biophysicochemical properties: Kinetic parameters: KM=71 uM for GlcNAc-B-S-pNP;

         Genatlas biochemistry entry for B4GALT2:
    UDP galactose

         Enzyme Number (IUBMB): EC 2.4.1.-1

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003831beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity IEA--
    GO:0003945N-acetyllactosamine synthase activity IEA--
    GO:0004461lactose synthase activity IEA--
    GO:0008378galactosyltransferase activity TAS9405390
    GO:0046872metal ion binding IEA--
         
    B4GALT2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for B4GALT2:
     Decreased circadian period len  Decreased influenza A virus in 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for B4galt2):
     behavior/neurological  nervous system 

    B4GALT2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out B4galt2tm1Masn for B4GALT2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for B4GALT2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for B4GALT2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for B4GALT2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for B4GALT2

    miRNA
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    miRTarBase miRNAs that target B4GALT2:
    hsa-mir-20a-5p (MIRT050596), hsa-mir-221-3p (MIRT046876), hsa-mir-92a-3p (MIRT049075)

    Block miRNA regulation of human, mouse, rat B4GALT2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate B4GALT2 (see all 20):
    hsa-miR-34b* hsa-miR-136 hsa-miR-185* hsa-miR-148b hsa-miR-331-3p hsa-miR-449a hsa-miR-1827 hsa-miR-1910
    SwitchGear 3'UTR luciferase reporter plasmidB4GALT2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat B4GALT2

    Gene Editing
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    Clone
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    Browse Sino Biological Human cDNA Clones
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    Browse ESI BIO Cell Lines and PureStem Progenitors for B4GALT2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B4GALT2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    B4GT2_HUMAN, O60909: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Trans
    cisternae of Golgi stack
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    endoplasmic reticulum2
    cytoskeleton1
    cytosol1
    extracellular1
    lysosome1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0032580Golgi cisterna membrane IEA--

    B4GALT2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for B4GALT2 About   (see all 8)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Asparagine N-linked glycosylation0.49
    Metabolism of proteins0.30
    N-Glycan biosynthesis0.49
    N-glycan antennae elongation in the medial/trans-Golgi0.00
    Post-translational protein modification0.43
    N-Glycan antennae elongation0.00
    Transport to the Golgi and subsequent modification0.40
    2Keratan sulfate/keratin metabolism
    Keratan sulfate/keratin metabolism0.85
    Glycosaminoglycan biosynthesis - keratan sulfate0.43
    Keratan sulfate biosynthesis0.85
    3Galactose metabolism
    Galactose metabolism0.44
    Galactose metabolism0.44
    4Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    5MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for B4GALT2
        Galactose metabolism

    2 Reactome Pathways for B4GALT2
        N-Glycan antennae elongation
    Keratan sulfate biosynthesis


    Selected Kegg Pathways  (Kegg details for B4GALT2) (see all 6):
        Galactose metabolism
    N-Glycan biosynthesis
    Other types of O-glycan biosynthesis
    Glycosaminoglycan biosynthesis - keratan sulfate
    Glycosphingolipid biosynthesis - lacto and neolacto series

    UniProtKB/Swiss-Prot: B4GT2_HUMAN, O60909
    Pathway: Protein modification; protein glycosylation


    B4GALT2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including B4GALT2: 

              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for B4GALT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for B4GALT2 (ENSP000003492934) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    B3GNT2ENSP000003055954STRING: ENSP00000305595
    FUT1ENSP000003120214STRING: ENSP00000312021
    FUT2ENSP000003757484STRING: ENSP00000375748
    FUT3ENSP000003056034STRING: ENSP00000305603
    FUT5ENSP000002526754STRING: ENSP00000252675
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0018146keratan sulfate biosynthetic process TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0042339keratan sulfate metabolic process TAS--

    B4GALT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for B4GALT2 (B4GT2)

    7 HMDB Compounds for B4GALT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Alpha-Lactose(+)-lactose (see all 40)63-42-3--
    D-Glucose(+)-Glucose (see all 23)50-99-7--
    Manganesemanganese 7439-96-5--
    N-Acetyl-D-glucosamine2-(acetylamino)-2-deoxyhexose (see all 9)7512-17-6--
    N-AcetyllactosamineD-galactopyranosyl (see all 8)32181-59-2--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphategalactoseGDU (see all 39)2956-16-3--

    1 DrugBank Compound for B4GALT2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    N-Acetyl-D-glucosamine2-Acetamido-2-deoxy-D-glucose (see all 4)7512-17-6target--17139284 17016423



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for B4GALT2 gene (3 alternative transcripts): 
    NM_001005417.2  NM_003780.4  NM_030587.2  

    Unigene Cluster for B4GALT2:

    UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2
    Hs.632403  [show with all ESTs]
    Unigene Representative Sequence: AK095873
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000498543 ENST00000497866 ENST00000434555 ENST00000356836(uc010okl.2 uc001cli.3)
    ENST00000485678 ENST00000481924 ENST00000309519 ENST00000372324(uc001clg.3 uc001clh.3)

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    Selected qRT-PCR Assays for microRNAs that regulate B4GALT2 (see all 20):
    hsa-miR-34b* hsa-miR-136 hsa-miR-185* hsa-miR-148b hsa-miR-331-3p hsa-miR-449a hsa-miR-1827 hsa-miR-1910
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      QuantiTect SYBR Green Assays in human, mouse, rat B4GALT2
      QuantiFast Probe-based Assays in human, mouse, rat B4GALT2

    Additional mRNA sequence: 

    AB024434.1 AF038660.1 AK074533.1 AK095873.1 AK293418.1 AL137647.1 BC002431.2 BC096821.1 
    Y12510.1 

    17 DOTS entries:

    DT.443441  DT.75103445  DT.86855255  DT.75193620  DT.95200940  DT.101954755  DT.86855254  DT.91769702 
    DT.100820346  DT.100820347  DT.100820349  DT.75103444  DT.92061753  DT.97812595  DT.101973129  DT.424518 
    DT.99937626 

    Selected AceView cDNA sequences (see all 241):

    BE883853 CR607401 AI150669 NM_003780 AW082085 AW276110 AA759292 CR591692 
    AI910799 Y12510 BF724705 BU931196 BM763130 CK818761 BQ691759 AW296217 
    AL541643 BM464422 AL556544 BU159960 AL138200 BU192652 AI950908 BM799233 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT2 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for B4GALT2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    B4GALT2 expression in normal human tissues (normalized intensities)      B4GALT2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAGGCAGGT
    B4GALT2 Expression
    About this image


    B4GALT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Eye (Sensory Organs)
             Retina
    B4GALT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    B4GALT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.632403

    UniProtKB/Swiss-Prot: B4GT2_HUMAN, O60909
    Tissue specificity: Weakly expressed in various tissues. Highest expression in prostate, testis, ovary, intestine,
    muscle, and in fetal brain

        Pathway & Disease-focused RT2 Profiler PCR Array including B4GALT2: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for B4GALT2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B4galt21 , 5 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more1, 5 89.97(n)1
    92.68(a)1
      4 (53.70 cM)5
    534181  NM_001253381.11  NP_001240310.11 
     1178692605 
    chicken
    (Gallus gallus)
    Aves B4GALT21 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more 75.27(n)
    77.75(a)
      396122  NM_205203.1  NP_990534.1 
    lizard
    (Anolis carolinensis)
    Reptilia B4GALT26
    UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase...
    75(a)
    1 ↔ 1
    4(108893651-108908064)
    African clawed frog
    (Xenopus laevis)
    Amphibia BX848994.12   -- 71.09(n)    BX848994.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1001488281 novel protein similar to vertebrate UDP-Gal:betaGlcNAc more 69.47(n)
    71(a)
      100148828  NM_001128385.1  NP_001121857.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH133563
    beta4GalNAcTA1
    beta-N-acetylglucosaminyl-glycopeptide
    beta-1,4-galactosyltransferase3
    beta4GalNAcTA1
    39(a)
    (best of 2)3
    50.06(n)1
    41.28(a)1
      50E63
    365851  NM_137102.31  NP_610946.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y73E7A.73
    bre-41
    bre-41 43(a)
    (best of 2)3
    47.77(n)1
    41.24(a)1
      I(1621527-1626606)3
    1906681  NM_058471.11  NP_490872.11 


    ENSEMBL Gene Tree for B4GALT2 (if available)
    TreeFam Gene Tree for B4GALT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for B4GALT2 gene
    B4GALT52  B4GALT12  B4GALT42  B4GALT72  B4GALT62  B4GALT32  
    5 SIMAP similar genes for B4GALT2 using alignment to 1 protein entry:     B4GT2_HUMAN:
    B4GALT1    B4GALT4    B4GALT5    B4GALT3    B4GALT6

    B4GALT2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for B4GALT2 (see all 268)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1860536551,2
    --44444518(+) CTTTAA/CGGGTC 3 -- us2k10--------
    rs593630351,2
    F--44444659(+) CCACTC/TCCCGC 3 -- us2k11Minor allele frequency- T:0.03EA 120
    rs1406894691,2
    --44445619(+) CCTGCA/GCCGGA 3 -- us2k1 ut51 int10--------
    rs1457745421,2
    --44445663(+) TGTGAC/GCTGTC 3 -- us2k1 ut51 int10--------
    rs37624231,2
    C,F,H--44445667(+) AGCTGT/CCTGAG 3 -- ut51 int1 us2k116Minor allele frequency- C:0.13NS EA CSA WA NA 2335
    rs2012961791,2
    C--44445694(-) GGACTC/TCCACA 4 E G us2k1 mis1 int10--------
    rs795328821,2
    C,F--44445834(+) GTGTGC/TCTGTG 3 -- us2k1 int12Minor allele frequency- T:0.08CSA WA 120
    rs1465879931,2
    --44446004(+) GCTGGA/GCAGGA 3 -- us2k1 int10--------
    rs1413073331,2
    C--44446143(+) TTGGGC/TCCCCC 3 -- us2k1 int10--------
    rs1920810221,2
    --44446146(+) GGCCCC/TCCGGA 3 -- us2k1 int10--------

    HapMap Linkage Disequilibrium report for B4GALT2 (44444615 - 44456843 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for B4GALT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv732CNV Insertion18451855
    nsv870606CNV Loss21882294
    dgv217n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604013    OMIM disorders: --

    10 diseases for B4GALT2:    About MalaCards
    morquio syndrome b    sly syndrome    mucopolysaccharidoses    diabetic retinopathy
    retinitis    malaria    hiv-1    endotheliitis
    neuronitis    prostatitis


    B4GALT2 for disorders           About GeneDecksing


    Export disorders for B4GALT2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for B4GALT2 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with B4GALT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (PubMed id 9405390)1, 2, 3, 9 Almeida R.... Clausen H. (J. Biol. Chem. 1997)
    2. The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PubMed id 9597550)1, 2, 3 Lo N.-W.... Shaper N.L. (Glycobiology 1998)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Galactosylation of N-linked oligosaccharides by human beta-1,4- galactosyltransferases I, II, III, IV, V, and VI expressed in Sf-9 cells. (PubMed id 11588157)1, 2 Guo S.... Furukawa K. (Glycobiology 2001)
    7. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)1, 2 Amado M.... Clausen H. (Biochim. Biophys. Acta 1999)
    8. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    9. Site directed processing: role of amino acid sequences and glycosylation of acceptor glycopeptides in the assembly of extended mucin type O-glycan core 2. (PubMed id 19524017)1 Brockhausen I....Paulsen H. (Biochim. Biophys. Acta 2009)
    10. Comparison of HPLC/ESI-FTICR MS versus MALDI-TOF/TOF MS for glycopeptide analysis of a highly glycosylated HIV envelope glycoprotein. (PubMed id 18565761)1 Irungu J....Desaire H. (J. Am. Soc. Mass Spectrom. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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, Kegg, and/or H-InvDB)
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    Entrez Gene: 8704 HGNC: 925 AceView: B4GALT2 Ensembl:ENSG00000117411 euGenes: HUgn8704
    ECgene: B4GALT2 Kegg: 8704 H-InvDB: B4GALT2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for B4GALT2 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B4GALT2
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_437

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for B4GALT2 gene:
    Search GeneIP for patents involving B4GALT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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