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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

B4GALT2 Gene

protein-coding   GIFtS: 61
GCID: GC01P044444

UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide...

 Explore 5 diseases affiliated with
B4GALT2 via our new
 Human Malady Compendium 
Biological research products
for B4GALT2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 21 2     Beta-4-GalT21
Beta4Gal-T23     Beta-N-Acetylglucosaminyl-Glycolipid Beta-1,4-Galactosyltransferase 22
Beta-1,4-GalTase 22 3     UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase 22
UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 22 3     UDP-Gal:BetaGlcNAc Beta 1,4-Galactosyltransferase, Polypeptide 22
UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 22 3     Beta4Gal-T23
B4Gal-T22     EC 2.4.1.-3
B4Gal-T32     B4Gal-T22
Beta-1,4-Galactosyltransferase 22     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for B4GALT2:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for B4GALT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
44,456,840 bp from pter
Size:
12,226 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Trans cisternae
of Golgi stack
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60909

  • B4GALT2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000407468   ENSP00000349293   ENSP00000310696   ENSP00000361399  
    Reactome Protein details: O60909
    Human Recombinant Protein Products: 
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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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


    B4GALT2 for ontologies           About GeneDecksing



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

    B4GALT2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR003859 Galactosyl_T_2_met

    Graphical View of Domain Structure for InterPro Entry O60909

    ProtoNet protein and cluster: O60909

    1 Blocks protein family: IPB003859 Metazoa galactosyltransferase

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    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


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

    Animal Models:
         Mouse knock-out B4galt2tm1Masn for B4GALT2
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for B4galt2):
     behavior/neurological  nervous system 

    B4GALT2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1MPS IIIC - Sanfilippo syndrome C
    8/14 pathways (see all 14)
    MPS IIIC - Sanfilippo syndrome C1.00
    MPS IIIA - Sanfilippo syndrome A1.00
    MPS I - Hurler syndrome1.00
    MPS IIID - Sanfilippo syndrome D1.00
    Mucopolysaccharidoses1.00
    MPS IX - Natowicz syndrome1.00
    MPS IV - Morquio syndrome A1.00
    MPS II - Hunter syndrome1.00
    2Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation1.00
    Post-translational protein modification0.44
    N-Glycan biosynthesis0.52
    Metabolism of proteins0.15
    3N-glycan antennae elongation in the medial/trans-Golgi
    N-glycan antennae elongation in the medial/trans-Golgi1.00
    Transport to the Golgi and subsequent modification0.56
    N-Glycan antennae elongation0.75
    4Keratan sulfate biosynthesis
    Keratan sulfate biosynthesis1.00
    Glycosaminoglycan biosynthesis - keratan sulfate0.45
    Keratan sulfate/keratin metabolism0.84
    5Galactose metabolism
    Galactose metabolism1.00
    Galactose metabolism0.47
    Galactose metabolism0.95

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for B4GALT2
        Galactose metabolism


    1 GeneGo (Thomson Reuters) Pathway for B4GALT2
        Galactose metabolism

    5/24        Reactome Pathways for B4GALT2 (see all 24)
        MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    Keratan sulfate/keratin metabolism
    Transport to the Golgi and subsequent modification


    5/6         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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for B4GALT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/24 Interacting proteins for B4GALT2 (ENSP000003492934) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    B3GNT2ENSP000003055954STRING: ENSP00000305595
    FUT2ENSP000003757484STRING: ENSP00000375748
    FUT3ENSP000003056034STRING: ENSP00000305603
    FUT5ENSP000002526754STRING: ENSP00000252675
    FUT6ENSP000002869554STRING: ENSP00000286955
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for B4GALT2

    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

    Search CenterWatch for drugs/clinical trials and news about B4GALT2 / B4GT2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Additional cDNA 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 

    24/241 AceView cDNA sequences (see all 241):

    BM763130 AW296217 Y12510 AI950908 BM766234 AA759292 BQ940597 BE883853 
    AA577473 AL541643 BU947537 BQ654304 BM794874 AI361763 BM794222 BI914484 
    AW082085 CA432557 BG290123 AL138200 AL137647 AI150669 AW276110 CK818761 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    B4GALT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAGGCAGGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See B4GALT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for B4GALT2

    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

        SABiosciences Expression via Pathway-Focused PCR Array including B4GALT2: 
              Glycosylation in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for B4GALT2 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves B4GALT21 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more 75.35(n)
    78.12(a)
      396122  NM_205203.1  NP_990534.1 
    lizard
    (Anolis carolinensis)
    Reptilia B4GALT26
    --
    73(a)
    1 ↔ 1
    4(108899444-108908064)
    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 69.11(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
    CG8536-PA1
    39(a)
    (best of 2)3
    50.3(n)1
    41.64(a)1
      50E63
    365851  NM_137102.31  NP_610946.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y73E7A.73
    bre-41
    Protein BRE-41 43(a)
    (best of 2)3
    45.24(n)1
    37.75(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)
    About This Section
    Paralogs for B4GALT2 gene
    B4GALT52  B4GALT72  B4GALT12  B4GALT42  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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/245 NCBI SNPs in B4GALT2 are shown (see all 245    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs785278761,2
    F,--42570808(+) TAAATA/GTATCG 1 -- us2k11Minor allele frequency- G:0.06WA 118
    rs1997247591,2
    C--42570961(-) TTCCAA/CAAGCC 1 -- us2k10--------
    rs359048091,2
    C,F--42571518(-) AATGCC/GGTCCC 1 -- us2k12Minor allele frequency- G:0.03NA 68
    rs1114796501,2
    --42571792(+) CCACTC/TTGGGG 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs590060811,2
    C,--42572065(+) CCCTTG/ACTCCC 1 -- us2k13Minor allele frequency- A:0.08WA 122
    rs740733481,2
    C,--42572244(+) GTTCCC/TGCCTC 1 -- us2k11Minor allele frequency- T:0.50WA 2
    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 -- ut51 us2k1 int10--------
    rs1457745421,2
    --44445663(+) TGTGAC/GCTGTC 3 -- ut51 us2k1 int10--------

    HapMap Linkage Disequilibrium report for B4GALT2 (44444615 - 44456840 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for B4GALT2
         1 CNV: 84203

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    B4GALT2 for disorders           About GeneDecksing

    OMIM gene information: 604013    OMIM disorders: --

    5 diseases for B4GALT2:    About MalaCards
    diabetic retinopathy    retinitis    immunodeficiency    prostatitis
    neuronitis


    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)
    About This Section

    PubMed articles for B4GALT2 gene, integrated from 9 sources (see all 23):
    (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. (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. (1998)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (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. (2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (2001)
    7. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)1, 2 Amado M.... Clausen H. (1999)
    8. Site directed processing: role of amino acid sequence s and glycosylation of acceptor glycopeptides in the assembly of extended mucin type O-glycan core 2. (PubMed id 19524017)1 Brockhausen I....Paulsen H. (2009)
    9. Comparison of HPLC/ESI-FTICR MS versus MALDI-TOF/TOF M S for glycopeptide analysis of a highly glycosylated HIV envelope glycoprotein. (PubMed id 18565761)1 Irungu J....Desaire H. (2008)
    10. Identification of {beta}1,4GalT II as a Target Gene of p53-mediated HeLa Cell Apoptosis. (PubMed id 18211920)1 Zhou J....Gu J. (2008)

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for B4GALT2 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    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.)
    About This Section
    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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