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

B3GNT3 Gene

protein-coding   GIFtS: 59
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)
About This Section

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.-3
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 hemoglobinuria, and among its related super-pathways are Metabolic pathways and Metabolism of carbohydrates. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_011295.11  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for B3GNT3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (Potential)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y2A9

  • 2 DME Specific Peptides for B3GNT3 (Q9Y2A9)
     DILQWDF  PIDDVFLGMCL 

    B3GNT3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    B3GNT3 Protein Expression
    REFSEQ proteins: NP_055071.2  
    ENSEMBL proteins: 
     ENSP00000471733   ENSP00000321874   ENSP00000468914   ENSP00000472638  
    Reactome Protein details: Q9Y2A9
    Human Recombinant Protein Products for B3GNT3: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

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

    B3GNT3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

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

         Enzyme Numbers (IUBMB): EC 2.4.12 EC 2.4.1.-1

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008378galactosyltransferase 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

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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

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

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Glycosaminoglycan metabolism0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS I - Hurler syndrome0.48
    MPS IV - Morquio syndrome B0.48
    MPS IX - Natowicz syndrome0.48
    3Keratan sulfate biosynthesis
    Keratan sulfate biosynthesis0.82
    Keratan sulfate/keratin metabolism0.82
    4Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.35
    5O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.44

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    5/21        Reactome Pathways for B3GNT3 (see all 21)
        MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    Keratan sulfate/keratin metabolism
    MPS II - Hunter syndrome


    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for B3GNT3

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

    5/51 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): 5/9 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for B3GNT3 (B3GN3)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    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 

    24/131 AceView cDNA sequences (see all 131):

    CR611299 BM682980 BM837166 AI738415 AB015630 AF293973 AI337293 BM751524 
    AB049585 AJ130847 BX483385 CR614648 BM718996 NM_014256 AW848963 AI669036 
    AA367608 AI738745 BM850577 BX387834 AI537486 BM796339 CK903325 AF143868 

    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™, 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

    B3GNT3 expression in normal human tissues (normalized intensities)      B3GNT3 embryonic expression: see
    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 
     5/13 selected tissues (see all 13) fully expand
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             liver ; bile duct cells   
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             placenta ; decidual cells   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             uterus, post-menopause ; glandular cells   

    See B3GNT3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for B3GNT3

    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

        SABiosciences Expression via Pathway-Focused PCR Array including B3GNT3: 
              Glycosylation in human mouse rat

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for B3GNT3 gene from 7/13 species (see all 13)    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 --
    --
    47(a)
    1 → many
    JH375547.1(47263-49386)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    27(a)
    26(a)
    possible ortholog
    possible ortholog
    GL343939.1(65643-80768)
    GL343939.1(35000-39529)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX783958.12   -- 74.55(n)    BX783958.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5610281 similar to beta-3-galactosyltransferase 58.47(n)
    56.63(a)
      561028  NM_001128245.1  NP_001121717.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta brn6
    brainiac
    28(a)
    1 → many
    X(3998377-3999824)
    worm
    (Caenorhabditis elegans)
    Secernentea bre-56
    Beta-1,3-galactosyltransferase bre-5
    22(a)
    1 → many
    IV(12049261-12051226)


    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)
    About This Section
    Paralogs for B3GNT3 gene
    B3GNT22  B3GNT52  B3GALT52  B3GNT42  B3GALT12  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) 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

    10/510 SNPs in B3GNT3 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605863    OMIM disorders: --

    7 diseases for B3GNT3:    About MalaCards
    morquio syndrome b    hemoglobinuria    hyperparathyroidism    hodgkin's lymphoma
    non-hodgkin lymphoma    chronic lymphocytic leukemia    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)
    About This Section

    PubMed articles for B3GNT3 gene, integrated from 9 sources (see all 20):
    (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. (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. (1999)
    3. L-type voltage-dependent calcium channel alpha subuni t 1C is a novel candidate gene associated with secondary hyperparathyroidism: a n application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PubMed id 20424473)1, 4 Yokoyama K....Hosoya T. (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. (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. (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. (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. (2001)
    8. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)1, 2 Amado M.... Clausen H. (1999)
    9. A genome wide association study of genetic loci that i nfluence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and a f etoprotein and their associations with cancer risk. (PubMed id 23300138)1 He M....Wu T. (2013)
    10. Single nucleotide polymorphisms of matrix metalloprot einase 9 (MMP-9) and tumour protein 73 (TP73) interact with Epstein Barr virus in chronic lymphocytic leukemia: results from the European case-control study E piLymph. (PubMed id 21048031)1 Casabonne D....de Sanjose S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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      (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)
    About This Section
    Entrez Gene: 10331 HGNC: 13528 AceView: B3GNT3 Ensembl:ENSG00000179913 euGenes: HUgn10331
    ECgene: B3GNT3 Kegg: 10331 H-InvDB: B3GNT3

    (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 B3GNT3 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.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.)
    About This Section
    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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