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B3GNT9 Gene

protein-coding   GIFtS: 42
GCID: GC16M067182

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

  See related disease
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 91 2     beta3Gn-T92
Beta-1,3-N-Acetylglucosaminyltransferase 92 3     Beta-1,3-Gn-T93
BGnT-92 3     Beta3Gn-T93
beta-1,3-Gn-T92     EC 2.4.1.-3
Beta-1,3-Galactosyltransferase-Related Protein2     

External Ids:    HGNC: 287141   Entrez Gene: 847522   Ensembl: ENSG000002371727   UniProtKB: Q6UX723   

Export aliases for B3GNT9 gene to outside databases

Previous GC identifers: GC16M065740 GC16M053055


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for B3GNT9 Gene:
B3GNT9 (UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9) is a protein-coding gene. Diseases associated with B3GNT9 include cystic fibrosis. GO annotations related to this gene include galactosyltransferase activity. An important paralog of this gene is B3GNT3.


(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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Regulatory elements:
   Regulatory transcription factor binding sites in the B3GNT9 gene promoter:
         E2F   E2F-1   p53   ATF-2   c-Jun   c-Ets-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for B3GNT9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat B3GNT9


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

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

B3GNT9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B3GNT9 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M067182:  view genomic region     (about GC identifiers)

Start:
67,182,005 bp from pter      End:
67,185,117 bp from pter
Size:
3,113 bases      Orientation:
minus 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: B3GN9_HUMAN, Q6UX72 (See protein sequence)
Recommended Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9  
Size: 402 amino acids; 43751 Da
Sequence caution: Sequence=BC012191; Type=Frameshift; Positions=81;
Secondary accessions: Q96EK0

Explore the universe of human proteins at neXtProt for B3GNT9: NX_Q6UX72

Explore proteomics data for B3GNT9 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Thr329
  • Modification sites at PhosphoSitePlus

  • See B3GNT9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_171608.2  
    ENSEMBL proteins: 
     ENSP00000400157  
    Reactome Protein details: Q6UX72

    B3GNT9 Human Recombinant Protein Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (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 Q6UX72

    ProtoNet protein and cluster: Q6UX72

    1 Blocks protein domain: IPB002659 Glycosyl transferase

    UniProtKB/Swiss-Prot: B3GN9_HUMAN, Q6UX72
    Similarity: Belongs to the glycosyltransferase 31 family


    B3GNT9 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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         Enzyme Number (IUBMB): EC 2.4.1.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008378galactosyltransferase activity IEA--
    GO:0016757transferase activity, transferring glycosyl groups ----
         
    B3GNT9 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for B3GNT9:
     Decreased viability with pacli  Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for B3GNT9
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate B3GNT9 (see all 30):
    hsa-miR-3689b hsa-miR-644 hsa-miR-607 hsa-miR-323b-3p hsa-miR-218-1* hsa-miR-134 hsa-let-7a-2* hsa-miR-105
    SwitchGear 3'UTR luciferase reporter plasmidB3GNT9 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B3GNT9


    (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
    B3GN9_HUMAN, Q6UX72: Golgi apparatus membrane; Single-pass type II membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    endoplasmic reticulum1
    extracellular1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    B3GNT9 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 B3GNT9 About    
    See pathways by source

    SuperPathContained pathways About
    1Biosynthesis 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
    2O-linked glycosylation of mucins
    O-linked glycosylation of mucins0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for B3GNT9
        O-linked glycosylation of mucins



    B3GNT9 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for B3GNT9
    Interactions:

        Search GeneGlobe Interaction Network for B3GNT9

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for B3GNT9 (Q6UX723 ENSP000004001574) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MDFIQ997503, ENSP000002303214I2D: score=1 STRING: ENSP00000230321
    CFTRP135693I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486protein glycosylation IEA--

    B3GNT9 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 B3GNT9 (B3GN9)



    (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 B3GNT9 gene: 
    NM_033309.2  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000449549(uc002erf.3)
    miRNA
    Products:
         
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    Selected qRT-PCR Assays for microRNAs that regulate B3GNT9 (see all 30):
    hsa-miR-3689b hsa-miR-644 hsa-miR-607 hsa-miR-323b-3p hsa-miR-218-1* hsa-miR-134 hsa-let-7a-2* hsa-miR-105
    SwitchGear 3'UTR luciferase reporter plasmidB3GNT9 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat B3GNT9
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat B3GNT9
      QuantiFast Probe-based Assays in human, mouse, rat B3GNT9

    Selected AceView cDNA sequences (see all 141):

    AW137874 AI684669 CA427691 BQ018871 BX381933 BM664802 AI761198 AW273812 
    AI143671 AI201453 BU626001 BE745192 CR613875 NM_033309 AI568839 AA586811 
    AI097509 AI671802 BU731812 BM703331 AW594281 AA054782 AW340633 BQ771712 

    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™, 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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    B3GNT9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTTAATTAC
    B3GNT9 Expression
    About this image

    B3GNT9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    B3GNT9 Protein Expression
        Custom PCR Arrays for B3GNT9
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B3GNT9

    (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 B3GNT9 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B3gnt91 , 5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase more1, 5 80.14(n)1
    85.18(a)1
      8 (53.04 cM)5
    974401  NM_178879.41  NP_849210.11 
     1052526385 
    chicken
    (Gallus gallus)
    Aves B3GNT91 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase more 62.72(n)
    63.82(a)
      427539  XM_003641907.2  XP_003641955.1 
    lizard
    (Anolis carolinensis)
    Reptilia B3GNT96
    UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltr...
    53(a)
    1 ↔ 1
    5(108516149-108517363)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia b3gnt91 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase more 54.12(n)
    56.76(a)
      100495067  XM_002937173.2  XP_002937219.1 
    zebrafish
    (Danio rerio)
    Actinopterygii b3gnt91 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase more 56.4(n)
    55.23(a)
      100034499  XM_005159148.1  XP_005159205.1 


    ENSEMBL Gene Tree for B3GNT9 (if available)
    TreeFam Gene Tree for B3GNT9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for B3GNT9 gene
    B3GNT32  B3GNT22  B3GNT52  B3GALT52  B3GALT12  B3GNT42  B3GALT42  B3GALT22  
    B3GNT72  B3GNT82  B3GNT62  B3GALNT12  
    6 SIMAP similar genes for B3GNT9 using alignment to 1 protein entry:     B3GN9_HUMAN:
    B3GNT7    B3GNT2    B3GNT6    B3GNT3    B3GNT5    B3GNT4

    B3GNT9 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 B3GNT9 (see all 66)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2001171651,2
    C--67183206(+) GCCTGA/CAGCGA 2 A S mis10--------
    rs1401463141,2
    C--67183378(+) AAGGTG/TCGGAA 2 R syn10--------
    rs2002171411,2
    C--67183379(+) AGGTGC/TGGAAG 2 H R mis10--------
    rs1996443831,2
    C--67183579(+) TAGTAC/TTTGCT 2 K syn10--------
    rs1920594421,2
    C--67183589(+) TAGCCC/TGCGTG 2 Q R mis10--------
    rs2012817551,2
    --67183663(+) GCCAGA/GAACTC 2 F syn10--------
    rs1833655811,2
    C--67183678(+) AGATTG/TCCCAC 2 G syn10--------
    rs2005195391,2
    --67183798(+) TCGTCG/TAAGGC 2 L F mis10--------
    rs1464837931,2
    C--67183948(+) AGCGCC/TCCCTG 2 G syn10--------
    rs1913096311,2
    --67184028(+) GACAGC/TAATAA 2 T A mis10--------

    HapMap Linkage Disequilibrium report for B3GNT9 (67182005 - 67185117 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for B3GNT9:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv906794CNV Loss21882294
    dgv2886n71CNV Loss21882294
    nsv827707CNV Loss20364138
    nsv524363CNV Loss19592680
    dgv2887n71CNV Loss21882294
    dgv2885n71CNV Loss21882294
    dgv2888n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for B3GNT9

    (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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    1 disease for B3GNT9:    
    About MalaCards
    cystic fibrosis


    B3GNT9 for disorders           About GeneDecksing

    Genetic Association Database (GAD): B3GNT9
    Human Genome Epidemiology (HuGE) Navigator: B3GNT9 (3 documents)

    Export disorders for B3GNT9 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 B3GNT9 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with B3GNT9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 3 Clark H.F.... Gray A.M. (Genome Res. 2003)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (Am. J. Hum. Genet. 2009)
    4. An empirical framework for binary interactome mapping. (PubMed id 19060904)1 Venkatesan K....Vidal M. (Nat. Methods 2009)
    5. Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis. (PubMed id 17110338)1 Wang X....Balch W.E. (Cell 2006)
    6. 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. (Genome Res. 2004)
    7. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 84752 HGNC: 28714 AceView: MGC4655 Ensembl:ENSG00000237172 euGenes: HUgn84752
    ECgene: B3GNT9 H-InvDB: B3GNT9

    (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 B3GNT9 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for B3GNT9 gene:
    Search GeneIP for patents involving B3GNT9

    GeneCards and IP:
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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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