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

B3GNT4 Gene

protein-coding   GIFtS: 51
GCID: GC12P122689

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase...

  Search for B3GNT4
in our new
 Human Malady Compendium 
Biological research products
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 41 2     Beta-1,3-Gn-T43
B3GN-T41 2     Beta-1,3-N-Acetylglucosaminyltransferase BGn-T42
Beta3Gn-T43     Beta-1,3-Gn-T43
Beta-1,3-N-Acetylglucosaminyltransferase 42 3     Beta3Gn-T43
BGnT-42 3     EC 2.4.1.-3

External Ids:    HGNC: 156831   Entrez Gene: 793692   Ensembl: ENSG000001763837   OMIM: 6058645   UniProtKB: Q9C0J13   

Export aliases for B3GNT4 gene to outside databases

Previous GC identifers: GC12M121471 GC12M122667 GC12P122496 GC12P121125 GC12P121212 GC12P119649


(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 B3GNT4:
This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is
involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is
a type II transmembrane protein. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: B3GN4_HUMAN, Q9C0J1
Function: Has a beta-1,3-N-acetylglucosaminyltransferase activity for type 2 oligosaccharides




(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_000012.11  NC_018923.1  NT_009755.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the B3GNT4 gene promoter:
         STAT1   Brachyury   ATF-2   STAT1beta   Meis-1b   STAT1alpha   STAT3   Meis-1a   c-Jun   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidB3GNT4 promoter sequence
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B3GNT4


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

Entrez Gene cytogenetic band: 12q24   Ensembl cytogenetic band:  12q24.31   HGNC cytogenetic band: 12q24

B3GNT4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B3GNT4 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P122689:  view genomic region     (about GC identifiers)

Start:
122,688,090 bp from pter      End:
122,693,499 bp from pter
Size:
5,410 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: B3GN4_HUMAN, Q9C0J1 (See protein sequence)
Recommended Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4  
Size: 378 amino acids; 42310 Da
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity)
Sequence caution: Sequence=AAL37219.1; Type=Erroneous initiation;
Secondary accessions: Q8N5W4 Q8N934 Q8ND21 Q8WWR5 Q8WY02 Q96QH5
Alternative splicing: 2 isoforms:  Q9C0J1-1   Q9C0J1-2   

Explore the universe of human proteins at neXtProt for B3GNT4: NX_Q9C0J1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9C0J1

  • B3GNT4 Protein expression data from MOPED and PaxDb:    About this image 
    B3GNT4 Protein Expression
    REFSEQ proteins: NP_110392.1  
    ENSEMBL proteins: 
     ENSP00000319636   ENSP00000438840   ENSP00000444534  
    Reactome Protein details: Q9C0J1
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    Gene Ontology (GO): 2 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--

    B3GNT4 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

    B3GNT4 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002659 Glyco_trans_31

    Graphical View of Domain Structure for InterPro Entry Q9C0J1

    ProtoNet protein and cluster: Q9C0J1

    1 Blocks protein family: IPB002659 Glycosyl transferase

    UniProtKB/Swiss-Prot: B3GN4_HUMAN, Q9C0J1
    Similarity: Belongs to the glycosyltransferase 31 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: B3GN4_HUMAN, Q9C0J1
    Function: Has a beta-1,3-N-acetylglucosaminyltransferase activity for type 2 oligosaccharides

         Enzyme Number (IUBMB): 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--
         
    B3GNT4 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for B3GNT4:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
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    (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 - 5/7 super-pathways (see all 7About 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
    2Keratan sulfate biosynthesis
    Keratan sulfate biosynthesis1.00
    Keratan sulfate/keratin metabolism0.84
    3Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    4Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.15
    5Disease
    Disease1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5/21        Reactome Pathways for B3GNT4 (see all 21)
        MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    Keratan sulfate/keratin metabolism
    MPS II - Hunter syndrome


    2         Kegg Pathways  (Kegg details for B3GNT4):
        Glycosphingolipid biosynthesis - lacto and neolacto series
    Metabolic pathways

    UniProtKB/Swiss-Prot: B3GN4_HUMAN, Q9C0J1
    Pathway: Protein modification; protein glycosylation


    B3GNT4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for B3GNT4

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

    5/51 Interacting proteins for B3GNT4 (Q9C0J12, 3 ENSP000003196364) via UniProtKB, MINT, STRING, and/or I2D (see all 51)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GOLM1Q8NBJ42, 3, ENSP000003733634MINT-64978 I2D: score=4 STRING: ENSP00000373363
    B3GNT2ENSP000003055954STRING: ENSP00000305595
    FUT1ENSP000003120214STRING: ENSP00000312021
    FUT2ENSP000003757484STRING: ENSP00000375748
    FUT3ENSP000003056034STRING: ENSP00000305603
    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:0016266O-glycan processing TAS--
    GO:0018146keratan sulfate biosynthetic process TAS--
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0042339keratan sulfate metabolic process TAS--

    B3GNT4 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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    Search CenterWatch for drugs/clinical trials and news about B3GNT4 / B3GN4 

    (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,
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    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 B3GNT4 gene: 
    NM_030765.2  

    Unigene Cluster for B3GNT4:

    UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4
    Hs.363315  [show with all ESTs]
    Unigene Representative Sequence: AY358940
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000324189(uc001ubx.3) ENST00000546192(uc001uby.3) ENST00000545141
    ENST00000537991 ENST00000538257 ENST00000535274

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    Additional cDNA sequence: 

    AB049586.1 AJ130848.1 AJ278962.1 AL834452.1 AY358940.1 BC031399.1 

    3 DOTS entries:

    DT.431320  DT.100031197  DT.95297085 

    24/39 AceView cDNA sequences (see all 39):

    BX108933 CR591685 R41690 NM_030765 BC031399 BC030247 BX090781 AJ278962 
    AA936705 AL834452 CA416426 BI916321 AY358940 AA133381 AB049586 AI910059 
    AK095746 AJ130848 AA704041 AL522684 AW207332 AI961337 AL522683 BM820715 

    GeneLoc Exon Structure


    (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

    B3GNT4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGGCACTGG
    B3GNT4 Expression
    About this image

    B3GNT4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See B3GNT4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for B3GNT4

    SOURCE GeneReport for Unigene cluster: Hs.363315

    UniProtKB/Swiss-Prot: B3GN4_HUMAN, Q9C0J1
    Tissue specificity: Mainly expressed in brain tissues such as whole brain, hippocampus, amygdala, cerebellum and
    caudate nucleus. Also expressed in colon, esophagus and kidney

        SABiosciences Expression via Pathway-Focused PCR Array including B3GNT4: 
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    In Situ
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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 B3GNT4 gene from 4/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves LOC1008580431 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase more 68.7(n)
    65.24(a)
      100858043  XM_003642193.1  XP_003642241.1 
    lizard
    (Anolis carolinensis)
    Reptilia B3GNT46
    --
    55(a)
    1 ↔ 1
    GL343423.1(1408-2502)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.202732 Transcribed sequence with weak similarity to protein more 78.94(n)    AL775073.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG300366
    CG300376
    (see all 5)
    --
    20(a)
    16(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    2R(7865038-7866454)
    2R(7866598-7867990)


    ENSEMBL Gene Tree for B3GNT4 (if available)
    TreeFam Gene Tree for B3GNT4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for B3GNT4 gene
    B3GNT32  B3GNT22  B3GNT52  B3GALT52  B3GALT12  B3GALT42  B3GNT72  B3GALT22  
    B3GNT82  B3GNT62  B3GALNT12  B3GNT92  
    8 SIMAP similar genes for B3GNT4 using alignment to 1 protein entry:     B3GN4_HUMAN:
    B3GNT2    B3GNT3    B3GNT6    B3GNT7    B3GNT5    B3GALT1
    B3GNT8    B3GNT9

    B3GNT4 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

    10/102 NCBI SNPs in B3GNT4 are shown (see all 102    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1436451691,2
    --122686292(+) AACTGA/GGAGGG 3 -- us2k1 int10--------
    rs1145777251,2
    F--122686320(+) AGTGCC/TGTGGG 3 -- int1 us2k11Minor allele frequency- T:0.03WA 118
    rs1903614331,2
    --122686353(+) GCCCGA/CTCATA 3 -- us2k1 int10--------
    rs108480351,2
    C,F,A,H--122686437(+) GCACTT/GTGGCG 3 -- us2k1 int1 tfbs311Minor allele frequency- G:0.17NS EA NA 672
    rs1383180161,2
    --122686442(+) TTGGCA/GTGCGG 3 -- int1 us2k10--------
    rs1121260531,2
    --122686446(+) CGTGCG/AGATCA 3 -- us2k1 int13Minor allele frequency- A:0.06CSA WA EA 240
    rs1824909161,2
    --122686469(+) AGTTCA/GAGACC 3 -- us2k1 int10--------
    rs123715121,2
    C,F,H--122686637(+) TTTCAC/TGCCAG 3 -- us2k1 int110Minor allele frequency- T:0.02NS EA NA 1096
    rs1132628961,2
    C--122686753(+) AAAGGT/-TTTTT 3 -- us2k1 int11Minor allele frequency- -:0.50CSA 2
    rs1438966181,2
    --122686790(+) TTAATG/TGAAGA 3 -- us2k1 int10--------

    HapMap Linkage Disequilibrium report for B3GNT4 (122688090 - 122693499 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for B3GNT4: --

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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

    B3GNT4 for disorders           About MalaCards

    B3GNT4 for disorders           About GeneDecksing

    OMIM gene information: 605864    OMIM disorders: --


    Export disorders for B3GNT4 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 B3GNT4 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with B3GNT4)
        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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. 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)
    4. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)1, 2 Amado M.... Clausen H. (1999)
    5. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    6. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    7. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79369 HGNC: 15683 AceView: B3GNT4 Ensembl:ENSG00000176383 euGenes: HUgn79369
    ECgene: B3GNT4 Kegg: 79369 H-InvDB: B3GNT4

    (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 B3GNT4 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GNT4

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for B3GNT4 gene:
    Search GeneIP for patents involving B3GNT4

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



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