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B3GNT3 Gene

protein-coding   GIFtS: 60
GCID: GC19P017905

UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase...


(Previous symbol: TMEM3)
  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-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 31 2     beta3GalT82
TMEM31 2 3 5     beta3Gn-T32
Transmembrane Protein 31 2 3     core1-beta3GlcNAcT2
Putative Type II Membrane Protein1 2     B3GALT83
Beta-1,3-GalTase 82 3     BGnT-33
Core 1 Extending Beta-1,3-N-Acetylglucosaminyltransferase2 3     Beta-1,3-Gn-T33
UDP-Gal:Beta-GlcNAc Beta-1,3-Galactosyltransferase 82 3     Beta-3-Gx-T83
UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,3-Galactosyltransferase 82 3     Beta3Gal-T83
3-N-Acetylglucosaminyltransferase BGnT-31     Beta3GalT83
beta-11     Beta3Gn-T33
B3GAL-T82     Core1-beta3GlcNAcT3
B3GN-T32     EC 2.4.1.1463
B3GNT-32     b3Gal-T83
HP103282     Beta-1,3-Galactosyltransferase 83
beta-1,3-Gn-T32     Beta-1,3-N-Acetylglucosaminyltransferase 33
Beta-1,3-N-Acetylglucosaminyltransferase BGnT-32     EC 2.4.18
beta-3-Gx-T82     

External Ids:    HGNC: 135281   Entrez Gene: 103312   Ensembl: ENSG000001799137   OMIM: 6058635   UniProtKB: Q9Y2A93   

Export aliases for B3GNT3 gene to outside databases

Previous GC identifers: GC19P018399 GC19P018298 GC19P017751 GC19P017766 GC19P017471


(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 B3GNT3 Gene:
This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II
transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of
lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains
and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin
ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. (provided by RefSeq, Jul 2008)

GeneCards Summary for B3GNT3 Gene:
B3GNT3 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3) is a protein-coding gene. Diseases associated with B3GNT3 include morquio syndrome b, and sly syndrome. GO annotations related to this gene include galactosyltransferase activity. An important paralog of this gene is B3GNT2.

UniProtKB/Swiss-Prot: B3GN3_HUMAN, Q9Y2A9
Function: Has a beta-1,3-N-acetylglucosaminyltransferase activity for type 2 oligosaccharides

Gene Wiki entry for B3GNT3 (Beta-1,3-N-acetylglucosaminyltransferase 3) 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_000019.10  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the B3GNT3 gene promoter:
         Egr-3   RFX1   USF1   Tal-1   Lmo2   Tal-1beta   E47   USF-1   ITF-2   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidB3GNT3 promoter sequence
   Search Chromatin IP Primers for B3GNT3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat B3GNT3


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

Entrez Gene cytogenetic band: 19p13.1   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.1

B3GNT3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B3GNT3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P017905:  view genomic region     (about GC identifiers)

Start:
17,905,637 bp from pter      End:
17,924,385 bp from pter
Size:
18,749 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: B3GN3_HUMAN, Q9Y2A9 (See protein sequence)
Recommended Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3  
Size: 372 amino acids; 42534 Da
Sequence caution: Sequence=CAC82374.1; Type=Frameshift; Positions=194, 196, 202, 204, 209, 215;
Secondary accessions: B2RAS4 Q6NWU9 Q6NXU9 Q8WWR6 Q9C0J2

Explore the universe of human proteins at neXtProt for B3GNT3: NX_Q9Y2A9

Explore proteomics data for B3GNT3 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn64, Asn184, Asn202, Asn362, Asn367
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for B3GNT3 (Q9Y2A9)
     DILQWDF  PIDDVFLGMCL 


    See B3GNT3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055071.2  
    ENSEMBL proteins: 
     ENSP00000471733   ENSP00000321874   ENSP00000468914   ENSP00000472638  
    Reactome Protein details: Q9Y2A9

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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:
    B3GT: Beta 3-glycosyltransferases

    1 InterPro protein domain:
     IPR002659 Glyco_trans_31

    Graphical View of Domain Structure for InterPro Entry Q9Y2A9

    ProtoNet protein and cluster: Q9Y2A9

    1 Blocks protein domain: IPB002659 Glycosyl transferase

    UniProtKB/Swiss-Prot: B3GN3_HUMAN, Q9Y2A9
    Similarity: Belongs to the glycosyltransferase 31 family


    B3GNT3 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: B3GN3_HUMAN, Q9Y2A9
    Function: Has a beta-1,3-N-acetylglucosaminyltransferase activity for type 2 oligosaccharides
    Catalytic activity: UDP-N-acetyl-D-glucosamine +
    beta-D-galactosyl-(1->3)-(N-acetyl-D-glucosaminyl-(1->6))-N-acetyl-D-galactosaminyl-R = UDP +
    N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->3)-(N-acetyl-D-glucosaminyl-(1->6))-N-acetyl-D-galactosaminyl-R

         Enzyme Numbers (IUBMB): EC 2.4.12 EC 2.4.1.1461

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008378galactosyltransferase activity IEA--
    GO:0047223beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity IEA--
         
    B3GNT3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for B3GNT3:
     Decreased viability of wild-ty 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for B3gnt3):
     behavior/neurological  integument 

    B3GNT3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out B3gnt3tm1Dgen for B3GNT3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for B3GNT3
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    miRNA
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    miRTarBase miRNAs that target B3GNT3:
    hsa-mir-335-5p (MIRT018502)

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    2 qRT-PCR Assays for microRNAs that regulate B3GNT3:
    hsa-miR-2052 hsa-miR-629
    SwitchGear 3'UTR luciferase reporter plasmidB3GNT3 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: B3GNT3 (NM_014256)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B3GNT3


    (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
    B3GN3_HUMAN, Q9Y2A9: Golgi apparatus membrane; Single-pass type II membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    plasma membrane4
    extracellular2
    cytosol1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005794Golgi apparatus ----
    GO:0005887integral component of plasma membrane TAS10072769
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----

    B3GNT3 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 B3GNT3 About   (see all 7)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    2MPS 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
    3Keratan sulfate/keratin metabolism
    Keratan sulfate/keratin metabolism0.85
    Keratan sulfate biosynthesis0.85
    4Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    5O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for B3GNT3
        O-linked glycosylation of mucins
    Keratan sulfate biosynthesis


    2 Kegg Pathways  (Kegg details for B3GNT3):
        Glycosphingolipid biosynthesis - lacto and neolacto series
    Metabolic pathways

    UniProtKB/Swiss-Prot: B3GN3_HUMAN, Q9Y2A9
    Pathway: Protein modification; protein glycosylation


    B3GNT3 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including B3GNT3: 

              Glycosylation in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for B3GNT3

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

    Selected Interacting proteins for B3GNT3 (ENSP000003218744) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    B3GNT2ENSP000003055954STRING: ENSP00000305595
    B4GALT1ENSP000003690554STRING: ENSP00000369055
    FUT3ENSP000003056034STRING: ENSP00000305603
    FUT5ENSP000002526754STRING: ENSP00000252675
    GCNT2ENSP000002650124STRING: ENSP00000265012
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006486protein glycosylation ----
    GO:0016266O-glycan processing TAS--
    GO:0018146keratan sulfate biosynthetic process TAS--
    GO:0030203glycosaminoglycan metabolic process TAS--

    B3GNT3 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 B3GNT3 (B3GN3)



    (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,
    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 B3GNT3 gene: 
    NM_014256.3  

    Unigene Clusters for B3GNT3:

    UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3
    Hs.69009  [show with all ESTs], Hs.657825  [show with all ESTs]
    Unigene Representative Sequences: NM_014256, BC066876
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000599265 ENST00000318683(uc002nhl.1 uc010ebd.1 uc010ebe.1)
    ENST00000600777 ENST00000595387
    miRNA
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    hsa-miR-2052 hsa-miR-629
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      QuantiTect SYBR Green Assays in human, mouse, rat B3GNT3
      QuantiFast Probe-based Assays in human, mouse, rat B3GNT3

    Additional mRNA sequence: BC066876.1 

    10 DOTS entries:

    DT.95259878  DT.100786910  DT.91702134  DT.411543  DT.121431940  DT.100786905  DT.100786906  DT.121432096 
    DT.121432184  DT.121432183 

    Selected AceView cDNA sequences (see all 131):

    BM751524 AJ130847 AI738415 BM718996 CR614648 BX483385 NM_014256 CR611299 
    BM682980 AF293973 BM837166 AW848963 AB049585 AI337293 AB015630 AW194446 
    CK903325 BQ320251 BX387833 AI738745 BM844687 BI962731 AA552420 BP354030 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for B3GNT3    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c
    SP1:        -     -     -                                 
    SP2:                    -                                 
    SP3:                                                      
    SP4:                    -                                 


    ECgene alternative splicing isoforms for B3GNT3

    (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)
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    B3GNT3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGGGATGCGC
    B3GNT3 Expression
    About this image


    B3GNT3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Gut Tube (Gastrointestinal Tract)
             Hindgut
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Brain (Nervous System)
             Cerebral Cortex
    B3GNT3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    B3GNT3 Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.69009 Hs.657825

    UniProtKB/Swiss-Prot: B3GN3_HUMAN, Q9Y2A9
    Tissue specificity: Expressed in colon, jejunum, stomach, esophagus, placenta and trachea

        Pathway & Disease-focused RT2 Profiler PCR Array including B3GNT3: 
              Glycosylation in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B3GNT3

    (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 chordates.

    Orthologs for B3GNT3 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B3gnt31 , 5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase more1, 5 70.46(n)1
    68.06(a)1
      8 (34.43 cM)5
    722971  NM_028189.31  NP_082465.31 
     716917195 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    47(a)
    1 → many
    JH375547.1(47263-49386)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX783958.12   -- 74.55(n)    BX783958.1 
    zebrafish
    (Danio rerio)
    Actinopterygii b3gnt31 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase more 59.34(n)
    57.7(a)
      561172  NM_001110110.2  NP_001103580.1 


    ENSEMBL Gene Tree for B3GNT3 (if available)
    TreeFam Gene Tree for B3GNT3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for B3GNT3 gene
    B3GNT22  B3GNT52  B3GALT52  B3GALT12  B3GNT42  B3GALT42  B3GALT22  B3GNT72  
    B3GNT82  B3GNT62  B3GALNT12  B3GNT92  
    10 SIMAP similar genes for B3GNT3 using alignment to 3 protein entries:     B3GN3_HUMAN (see all proteins):
    B3GNT6    B3GNT7    B3GNT2    B3GNT4    B3GALT5    B3GNT8
    B3GNT5    B3GALT1    B3GALNT1    B3GNT9

    B3GNT3 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 B3GNT3 (see all 510)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1505665141,2
    C--17835258(+) CAACCG/TCTGCC 1 -- us2k10--------
    rs1399036241,2
    --17835394(+) CTCCCA/GGACTG 1 -- us2k10--------
    rs1890944241,2
    --17835406(+) AGTGCC/TGTGGC 1 -- us2k10--------
    rs48080981,2
    C,F,H--17835407(+) GTGCCT/GTGGCA 1 -- us2k15Minor allele frequency- G:0.42NA 12
    rs116706281,2
    C,F,H--17835455(+) GAGTGG/ATTCTC 1 -- us2k18Minor allele frequency- A:0.44NA WA CSA 16
    rs1171224711,2
    C--17835547(+) GGGTTT/ACTTCA 1 -- us2k11Minor allele frequency- A:0.01EA 120
    rs1175961841,2
    C,F--17835548(+) GGTTTC/GTTCAT 1 -- us2k11Minor allele frequency- G:0.12EA 120
    rs2655431,2
    C,F,H--17835549(+) GTTTCG/TTCATG 1 -- us2k111Minor allele frequency- T:0.45NA WA CSA EA 372
    rs1393986191,2
    --17835629(+) ATTACC/TGGCAT 1 -- us2k10--------
    rs2655421,2
    C,F--17835677(+) TAGGGG/TTGAGC 1 -- us2k110Minor allele frequency- T:0.44NA WA CSA EA 371

    HapMap Linkage Disequilibrium report for B3GNT3 (17905637 - 17924385 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for B3GNT3:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv3764n71CNV Loss21882294
    dgv50n68CNV Loss17160897
    nsv911220CNV Loss21882294
    dgv3766n71CNV Loss21882294
    nsv911214CNV Loss21882294
    nsv911219CNV Loss21882294
    nsv911221CNV Loss21882294
    nsv911209CNV Loss21882294
    dgv3765n71CNV Loss21882294
    nsv911218CNV Gain21882294

    Human Gene Mutation Database (HGMD): B3GNT3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing B3GNT3
    DNA2.0 Custom Variant and Variant Library Synthesis for B3GNT3

    (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.)
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    OMIM gene information: 605863    OMIM disorders: --

    10 diseases for B3GNT3:    
    About MalaCards
    morquio syndrome b    sly syndrome    mucopolysaccharidoses    hemoglobinuria
    hyperparathyroidism    hodgkin's lymphoma    non-hodgkin lymphoma    chronic lymphocytic leukemia
    cerebritis    leukemia


    B3GNT3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): B3GNT3
    Human Genome Epidemiology (HuGE) Navigator: B3GNT3 (3 documents)

    Export disorders for B3GNT3 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 B3GNT3 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with B3GNT3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of three novel beta 1,3-N- acetylglucosaminyltransferases structurally related to the beta 1,3- galactosyltransferase family. (PubMed id 11042166)1, 2, 3 Shiraishi N....Sasaki K. (J. Biol. Chem. 2001)
    2. Selection of cDNAs encoding putative type II membrane proteins on the cell surface from a human full-length cDNA bank. (PubMed id 10072769)1, 2, 3 Yokoyama-Kobayashi M.... Kato S. (Gene 1999)
    3. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (Nephron Clin Pract 2010)
    4. Genetic variation in 1253 immune and inflammation genes and risk of non-Hodgkin lymphoma. (PubMed id 17827388)1, 4 Cerhan J.R....Slager S.L. (Blood 2007)
    5. 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)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    7. Novel sulfated lymphocyte homing receptors and their control by a Core1 extension beta 1,3-N-acetylglucosaminyltransferase. (PubMed id 11439191)1, 2 Yeh J.-C.... Fakuda M. (Cell 2001)
    8. 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)
    9. A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and I+ fetoprotein and their associations with cancer risk. (PubMed id 23300138)1 He M....Wu T. (Gut 2014)
    10. B3GNT3 expression suppresses cell migration and invasion and predicts favorable outcomes in neuroblastoma. (PubMed id 24118321)1 Ho W.L....Huang M.C. (Cancer Sci. 2013)

    (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: 10331 HGNC: 13528 AceView: B3GNT3 Ensembl:ENSG00000179913 euGenes: HUgn10331
    ECgene: B3GNT3 Kegg: 10331 H-InvDB: B3GNT3

    (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 B3GNT3 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GNT3
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_536

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for B3GNT3 gene:
    Search GeneIP for patents involving B3GNT3

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



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