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

B4GALNT3 Gene

protein-coding   GIFtS: 45
GCID: GC12P000569

beta-1,4-N-acetyl-galactosaminyl transferase 3

 Explore 1 disease affiliated with
B4GALNT3 via our new
 Human Malady Compendium 
Biological research products
for B4GALNT3
    

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

Aliases
Beta-1,4-N-Acetyl-Galactosaminyl Transferase 31 2     FLJ162241
Beta-1,4-N-Acetylgalactosaminyltransferase III2 3     FLJ403621
B4GalNAcT32 3     Beta-1,4-N-Acetylgalactosaminyltransferase 32
Beta4GalNAc-T32 3     Beta4GalNAcT33
NGalNAc-T22 3     N-Acetyl-Beta-Glucosaminyl-Glycoprotein 4-Beta-N-
Acetylgalactosaminyltransferase2
N-Acetyl-Beta-Glucosaminyl-Glycoprotein
4-Beta-N-Acetylgalactosaminyltransferase 22 3
     Beta4GalNAcT33
B4GalNac-T31     EC 2.4.1.2443

External Ids:    HGNC: 241371   Entrez Gene: 2833582   Ensembl: ENSG000001390447   OMIM: 6122205   UniProtKB: Q6L9W63   

Export aliases for B4GALNT3 gene to outside databases

Previous GC identifer: GC12P000440


(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 B4GALNT3:
B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine
(LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 (PubMed
16728562)).(supplied by OMIM, Aug 2008)

UniProtKB/Swiss-Prot: B4GN3_HUMAN, Q6L9W6
Function: Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a
beta-1,4-linkage to form N,N'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and
probably O-linked glycans. Mediates the N,N'-diacetyllactosediamine formation on gastric mucosa




(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_009759.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the B4GALNT3 gene promoter:
         Bach1   Pax-5   MEF-2   NCX/Ncx   Evi-1   MEF-2A   POU2F1   POU2F1a   SEF-1 (1)   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidB4GALNT3 promoter sequence
   Search SABiosciences Chromatin IP Primers for B4GALNT3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B4GALNT3


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

Entrez Gene cytogenetic band: 12p13.33   Ensembl cytogenetic band:  12p13.33   HGNC cytogenetic band: 12p13.33

B4GALNT3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B4GALNT3 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P000569:  view genomic region     (about GC identifiers)

Start:
569,530 bp from pter      End:
672,675 bp from pter
Size:
103,146 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: B4GN3_HUMAN, Q6L9W6 (See protein sequence)
Recommended Name: Beta-1,4-N-acetylgalactosaminyltransferase 3  
Size: 998 amino acids; 114975 Da
Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Localizes to
apical Golgi
Sequence caution: Sequence=BAC05141.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAD18454.1; Type=Miscellaneous discrepancy; Note=Probable intron retention;
Secondary accessions: Q6ZNC1 Q8N7T6

Explore the universe of human proteins at neXtProt for B4GALNT3: NX_Q6L9W6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q6L9W6

  • B4GALNT3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_775864.3  
    ENSEMBL proteins: 
     ENSP00000266383   ENSP00000322953  

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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:0016021integral to membrane IEA--
    GO:0032580Golgi cisterna membrane IEA--


    B4GALNT3 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

    B4GALNT3 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR008428 Chond_GalNAc
     IPR011658 PA14

    Graphical View of Domain Structure for InterPro Entry Q6L9W6

    ProtoNet protein and cluster: Q6L9W6

    1 Blocks protein family: IPB011658 PA14

    UniProtKB/Swiss-Prot: B4GN3_HUMAN, Q6L9W6
    Similarity: Belongs to the chondroitin N-acetylgalactosaminyltransferase 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: B4GN3_HUMAN, Q6L9W6
    Function: Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a
    beta-1,4-linkage to form N,N'-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and
    probably O-linked glycans. Mediates the N,N'-diacetyllactosediamine formation on gastric mucosa
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine + N-acetyl-beta-D-glucosaminyl group = UDP +
    N-acetyl-beta-D-galactosaminyl-(1->4)-N-acetyl-beta-D-glucosaminyl group

    Enzyme Number (IUBMB): EC 2.4.1.2441

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008376acetylgalactosaminyltransferase activity IDA12966086
    GO:0016758transferase activity, transferring hexosyl groups ----
    GO:0033842N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity IEA--


    B4GALNT3 for ontologies           About GeneDecksing


    Animal Models:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for B4galnt3):
     behavior/neurological  homeostasis/metabolism  pigmentation  vision/eye 

    B4GALNT3 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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for B4GALNT3

    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for B4GALNT3

    3 HMDB Compounds for B4GALNT3    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChondroitinChondroitin-D-glucuronate (see all 5)9007-27-6--
    N-Acetylgalactosamine2-Acetamido-2-desoxy-b-D-talofuranose (see all 113)1811-31-0--
    Uridine diphosphate-N-acetylgalactosamineUDP-N-acetyl-D-galactosamine (see all 17)7277-98-7--
    Search CenterWatch for drugs/clinical trials and news about B4GALNT3 / B4GN3 

    (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 B4GALNT3 gene: 
    NM_173593.3  

    Unigene Cluster for B4GALNT3:

    Beta-1,4-N-acetyl-galactosaminyl transferase 3
    Hs.504416  [show with all ESTs]
    Unigene Representative Sequence: AK131277
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000266383(uc001qii.1) ENST00000535680 ENST00000544638 ENST00000540836
    ENST00000322843(uc001qij.1) ENST00000535402(uc001qik.1)

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    Additional cDNA sequence: 

    AB089940.1 AK093503.1 AK097681.1 AK131277.1 

    9 DOTS entries:

    DT.101955455  DT.308970  DT.100019906  DT.92040840  DT.91642367  DT.121126316  DT.75167858  DT.91906001 
    DT.95287914 

    24/78 AceView cDNA sequences (see all 78):

    BF002388 AI204181 BQ447741 BI520398 BX505732 BF222703 BI825677 AI653170 
    AI720529 BX505733 AI460267 BX111532 AA911067 AK093503 AX748171 CD642821 
    AI654238 AI868804 BX108048 BQ181716 AA449444 BM791086 BX476884 AI198599 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for B4GALNT3    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16
    SP1:                                                                                                                        
    SP2:                                                              -                                                         
    SP3:                                                                                                                        
    SP4:                                                              -                                                         
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for B4GALNT3

    (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

    B4GALNT3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGGACAGAG

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

    About this image
    See B4GALNT3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for B4GALNT3

    SOURCE GeneReport for Unigene cluster: Hs.504416

    UniProtKB/Swiss-Prot: B4GN3_HUMAN, Q6L9W6
    Tissue specificity: Highly expressed in testis, colon and stomach. Weakly expressed in other tissues

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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 chordates.

    Orthologs for B4GALNT3 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B4galnt31 , 5 beta-1,4-N-acetyl-galactosaminyl transferase 31, 5 85.12(n)1
    84.68(a)1
      6 (56.94 cM)5
    3304061  NM_198884.11  NP_942585.11 
     1202030735 
    chicken
    (Gallus gallus)
    Aves B4GALNT31 beta-1,4-N-acetyl-galactosaminyl transferase 3 69.32(n)
    69.43(a)
      418150  XM_416381.3  XP_416381.3 
    lizard
    (Anolis carolinensis)
    Reptilia B4GALNT36
    --
    61(a)
    1 ↔ 1
    5(12056279-12077413)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.154752 Xenopus laevis transcribed sequences 81.03(n)    BJ037279.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570914432   -- 72.81(n)    57091443 


    ENSEMBL Gene Tree for B4GALNT3 (if available)
    TreeFam Gene Tree for B4GALNT3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for B4GALNT3 gene
    B4GALNT42  
    1 SIMAP similar gene for B4GALNT3 using alignment to 2 protein entries:     B4GN3_HUMAN (see all proteins):
    B4GALNT4

    B4GALNT3 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

    10/2479 NCBI SNPs in B4GALNT3 are shown (see all 2479    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1503652411,2
    Cother666022(+) CACTTC/TGTCGT 2 F syn11Minor allele frequency- T:0.00EU 1319
    rs1129828281,2
    C,--509542(+) AGGAGC/TGAGGA 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1428467151,2
    --567582(+) ACCAAC/TTAGAA 1 -- us2k10--------
    rs1460601041,2
    --567590(+) GAAAAG/TAAAAT 1 -- us2k10--------
    rs1998542211,2
    --567744(+) TTTTG-/AGCAGG 1 -- us2k10--------
    rs1889216321,2
    --567874(+) CCCACC/TTCAGC 1 -- us2k10--------
    rs773316931,2
    C,F,--568009(+) CTGTAG/AAAACT 1 -- us2k12Minor allele frequency- A:0.02WA NA 238
    rs1932336871,2
    --568154(+) ACTTTC/TCCCAT 1 -- us2k10--------
    rs1156987911,2
    F,--568248(+) TGCCCC/TTTGAT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1400049421,2
    --568296(+) TGCCTC/GAAGGC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for B4GALNT3 (569530 - 672675 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 16 variations for B4GALNT3
         9 CNVs: 86131 75890 86132 71422 86133 75891 3871 86130 30573
         7 Indels: 33552 75892 33551 25023 45056 25022 25024

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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

    B4GALNT3 for disorders           About GeneDecksing

    OMIM gene information: 612220    OMIM disorders: --

    1 disease for B4GALNT3:    About MalaCards
    colon cancer

    Human Genome Epidemiology (HuGE) Navigator: B4GALNT3 (2 documents)

    Export disorders for B4GALNT3 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 B4GALNT3 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with B4GALNT3)
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    1. Molecular cloning and characterization of a novel human beta 1,4-N- acetylgalactosaminyltransferase, beta 4GalNAc-T3, responsible for the synthesis of N,N'-diacetyllactosediamine, galNAc beta 1-4GlcNAc. (PubMed id 12966086)1, 2, 3 Sato T.... Narimatsu H. (2003)
    2. Apical Golgi localization of N,N'-diacetyllactosediamine synthase, beta4GalNAc-T3, is responsible for LacdiNAc expression on gastric mucosa. (PubMed id 16728562)1, 2 Ikehara Y.... Narimatsu H. (2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Peptide-specific transfer of N-acetylgalactosamine to O-linked glycans by the glycosyltransferases b1,4-N-acetylgalactosaminyl transfe rase 3 (b4GalNAc-T3) and b4GalNAc-T4. (PubMed id 22722940)1 Fiete D....Baenziger J.U. (2012)
    5. Molecular basis for protein-specific transfer of N-ace tylgalactosamine to N-linked glycans by the glycosyltransferases b1,4-N-acetylga lactosaminyl transferase 3 (b4GalNAc-T3) and b4GalNAc-T4. (PubMed id 22722937)1 Fiete D....Baenziger J.U. (2012)
    6. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    7. Genome-wide association study identifies GPC5 as a no vel genetic locus protective against sudden cardiac arrest. (PubMed id 20360844)1 Arking D.E....Chugh S.S. (2010)
    8. A necessary and sufficient determinant for protein-selective glycosylation in vivo. (PubMed id 18048353)1 Miller E....Baenziger J.U. (2008)
    9. Beta1,4-N-acetylgalactosaminyltransferase III enhances malignant phenotypes of colon cancer cells. (PubMed id 17579116)1 Huang J....Huang M.C. (2007)
    10. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (2006)

    (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: 283358 HGNC: 24137 AceView: B4GalNac-T3 Ensembl:ENSG00000139044 euGenes: HUgn283358
    ECgene: B4GALNT3 H-InvDB: B4GALNT3

    (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 B4GALNT3 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for B4GALNT3 gene:
    Search GeneIP for patents involving B4GALNT3

    GeneCards and IP:
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