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

B3GAT2 Gene

protein-coding   GIFtS: 60
GCID: GC06M071566

Beta-1,3-Glucuronyltransferase 2 (Glucuronosyltransferase...

  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
Beta-1,3-Glucuronyltransferase 2 (Glucuronosyltransferase S)1 2     glcAT-D2
GLCATS2 3 5     UDP-Glucuronyltransferase S2
Glucuronosyltransferase S2 3     Uridine Diphosphate Glucuronic Acid:Acceptor Glucuronosyltransferase2
UDP-Glucuronosyltransferase S2 3     GlcAT-D3
EC 2.4.1.1353 8     GlcAT-S3
KIAA19633 5     Beta-1,3-Glucuronyltransferase 23
Galactosylgalactosylxylosylprotein 3-Beta-Glucuronosyltransferase 22     

External Ids:    HGNC: 9221   Entrez Gene: 1351522   Ensembl: ENSG000001123097   OMIM: 6074975   UniProtKB: Q9NPZ53   

Export aliases for B3GAT2 gene to outside databases

Previous GC identifers: GC00U990665 GC06M071533 GC06M071562 GC06M071623 GC06M068769


(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 B3GAT2 Gene:
The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes
the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or
glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the
synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in
cellular migration and adhesion in the nervous system. (provided by RefSeq, Jul 2008)

GeneCards Summary for B3GAT2 Gene: 
B3GAT2 (beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)) is a protein-coding gene. Diseases associated with B3GAT2 include drug-induced hepatitis, and gilbert syndrome, and among its related super-pathways are Metabolism of carbohydrates and chondroitin sulfate biosynthesis. GO annotations related to this gene include galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity and metal ion binding. An important paralog of this gene is B3GAT1.

UniProtKB/Swiss-Prot: B3GA2_HUMAN, Q9NPZ5
Function: Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins (By
similarity)

Gene Wiki entry for B3GAT2 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_000006.11  NT_007299.13  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the B3GAT2 gene promoter:
         AREB6   N-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidB3GAT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for B3GAT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B3GAT2


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

Entrez Gene cytogenetic band: 6q13   Ensembl cytogenetic band:  6q13   HGNC cytogenetic band: 6q12

B3GAT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B3GAT2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M071566:  view genomic region     (about GC identifiers)

Start:
71,566,382 bp from pter      End:
71,666,788 bp from pter
Size:
100,407 bases      Orientation:
minus 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: B3GA2_HUMAN, Q9NPZ5 (See protein sequence)
Recommended Name: Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2  
Size: 323 amino acids; 36919 Da
Cofactor: Manganese
Subunit: Homodimer (Potential)
Subcellular location: Golgi apparatus membrane; Single-pass type II membrane protein
Sequence caution: Sequence=BAB70889.1; Type=Erroneous initiation; Sequence=BAB85549.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for B3GAT2:
2D0J (3D)    
Secondary accessions: Q5JS09 Q8TF38 Q96NK4

Explore the universe of human proteins at neXtProt for B3GAT2: NX_Q9NPZ5

Explore proteomics data for B3GAT2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NPZ5

  • 4/5 DME Specific Peptides for B3GAT2 (Q9NPZ5) (see all 5)
     VWHTRTEK  VWPVGLVGG  RPFAIDMAGFAV  FADDDNTYSLELF 

    B3GAT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    B3GAT2 Protein Expression
    REFSEQ proteins: NP_542780.1  
    ENSEMBL proteins: 
     ENSP00000230053  
    Reactome Protein details: Q9NPZ5
    Human Recombinant Protein Products for B3GAT2: 
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    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    B3GAT2 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: 
    B3GAT: Beta-1,3-glucuronyltransferases

    1 InterPro protein domain:
     IPR005027 Glyco_trans_43

    Graphical View of Domain Structure for InterPro Entry Q9NPZ5

    ProtoNet protein and cluster: Q9NPZ5

    1 Blocks protein domain: IPB005027 Glycosyl transferase

    UniProtKB/Swiss-Prot: B3GA2_HUMAN, Q9NPZ5
    Similarity: Belongs to the glycosyltransferase 43 family


    B3GAT2 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: B3GA2_HUMAN, Q9NPZ5
    Function: Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins (By
    similarity)
    Catalytic activity: UDP-glucuronate + 3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein = UDP +
    3-beta-D-glucuronosyl-3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein

         Enzyme Number (IUBMB): EC 2.4.1.1351 2

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015018galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity ISS--
    GO:0046872metal ion binding IEA--
         
    B3GAT2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for B3GAT2:
     Increased viability after born 

    Animal Models:
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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 B3GAT2 About   (see all 8)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Mucopolysaccharidoses0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS IV - Morquio syndrome B0.48
    MPS I - Hurler syndrome0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS IX - Natowicz syndrome0.48
    2chondroitin sulfate biosynthesis
    chondroitin sulfate biosynthesis0.74
    glycoaminoglycan-protein linkage region biosynthesis0.38
    dermatan sulfate biosynthesis0.64
    3A tetrasaccharide linker sequence is required for GAG synthesis
    Chondroitin sulfate/dermatan sulfate metabolism0.54
    A tetrasaccharide linker sequence is required for GAG synthesis0.54
    4heparan sulfate biosynthesis
    heparan sulfate biosynthesis0.79
    5Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for B3GAT2
        glycoaminoglycan-protein linkage region biosynthesis
    chondroitin sulfate biosynthesis
    heparan sulfate biosynthesis
    dermatan sulfate biosynthesis

    5/19        Reactome Pathways for B3GAT2 (see all 19)
        Chondroitin sulfate/dermatan sulfate metabolism
    MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    MPS II - Hunter syndrome


    1         Kegg Pathway  (Kegg details for B3GAT2):
        Other types of O-glycan biosynthesis

    UniProtKB/Swiss-Prot: B3GA2_HUMAN, Q9NPZ5
    Pathway: Protein modification; protein glycosylation


    B3GAT2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for B3GAT2

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

    5 Interacting proteins for B3GAT2 (ENSP000002300534) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    B3GALT6ENSP000003684964STRING: ENSP00000368496
    CSGALNACT1ENSP000003108914STRING: ENSP00000310891
    CSGALNACT2ENSP000003635904STRING: ENSP00000363590
    EXTL2ENSP000003591314STRING: ENSP00000359131
    EXTL3ENSP000002205624STRING: ENSP00000220562
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006486protein glycosylation IEA--
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0030204chondroitin sulfate metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    B3GAT2 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

    B3GAT2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for B3GAT2 (B3GA2)

    3 HMDB Compounds for B3GAT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Manganesemanganese 7439-96-5--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate glucuronic acidUDP glucuronate (see all 41)2616-64-0--

    2 Novoseek inferred chemical compound relationships for B3GAT2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paragloboside 90.8 1 15470230 (1)
    glycolipid 68.2 1 15470230 (1)

    Search CenterWatch for drugs/clinical trials and news about B3GAT2 / B3GA2

    (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 B3GAT2 gene: 
    NM_080742.2  

    Unigene Cluster for B3GAT2:

    Beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S)
    Hs.713609  [show with all ESTs]
    Unigene Representative Sequence: AB075843
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000230053(uc003pfv.3 uc003pfw.3)
    miRNA
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    Additional mRNA sequence: 

    AB075843.1 AK290018.1 AY070019.1 BC113995.1 

    7 DOTS entries:

    DT.308112  DT.454074  DT.454075  DT.100703908  DT.100784972  DT.121383613  DT.95310418 

    24/49 AceView cDNA sequences (see all 49):

    BM693450 AI138778 BM670746 AY070019 F11751 AB075843 NM_080742 AW590323 
    BG149793 BF477827 BM698655 BE089137 N59138 Z38517 D25748 F05538 
    AI954745 AI701137 R21032 BI914787 F09411 AI702728 BM717735 CB164059 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for B3GAT2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
    SP1:                                    
    SP2:                                    


    ECgene alternative splicing isoforms for B3GAT2

    (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

    B3GAT2 expression in normal human tissues (normalized intensities)      B3GAT2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTATAAGC
    B3GAT2 Expression
    About this image


    B3GAT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/31 selected tissues (see all 31) fully expand
     
     Brain (Nervous System)    fully expand to see all 16 entries
             Thalamus
             Olfactory Bulb   
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Nose (Sensory Organs)    fully expand to see all 3 entries
             nasopharynx ; respiratory epithelial cells   
             sensory organ/nose   

    See B3GAT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for B3GAT2

    SOURCE GeneReport for Unigene cluster: Hs.713609

    UniProtKB/Swiss-Prot: B3GA2_HUMAN, Q9NPZ5
    Tissue specificity: Expressed in the trachea, retina, spinal cord, hippocampus and other brain regions, and, at
    lower levels, in testis and ovary

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B3GAT2

    (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 eukaryotes.

    Orthologs for B3GAT2 gene from 8/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B3gat21 , 5 beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase more1, 5 88.54(n)1
    90.71(a)1
      1 (9.75 cM)5
    2806451  NM_172124.21  NP_742122.21 
     237617535 
    chicken
    (Gallus gallus)
    Aves B3GAT21 beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase more 85.24(n)
    92.09(a)
      428638  NM_001031527.1  NP_001026698.1 
    lizard
    (Anolis carolinensis)
    Reptilia B3GAT26
    Uncharacterized protein
    76(a)
    1 ↔ 1
    1(167808812-167848701)
    zebrafish
    (Danio rerio)
    Actinopterygii AF506207.12   -- 73.84(n)   192334  AF506207.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta GlcAT-I6
    GlcAT-S6
    (see all 3)
    GlcAT-S
    (see all 3)
    39(a)
    20(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    X(4025250-4026866)
    2L(9616469-9623109)
    worm
    (Caenorhabditis elegans)
    Secernentea glct-16
    sqv-86
    (see all 7)
    Probable glucuronosyltransferase sqv-8
    (see all 7)
    33(a)
    31(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    I(12337968-12339239)
    II(9647938-9649224)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons IRX9-L1 nucleotide-diphospho-sugar transferase domain-containing more 45.68(n)
    37.04(a)
      839652  NM_102525.2  NP_564290.2 
    rice
    (Oryza sativa)
    Liliopsida Os10g02053001 hypothetical protein 48.82(n)
    36.73(a)
      4348270  NM_001070845.1  NP_001064310.1 


    ENSEMBL Gene Tree for B3GAT2 (if available)
    TreeFam Gene Tree for B3GAT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for B3GAT2 gene
    B3GAT12  B3GAT32  
    3 SIMAP similar genes for B3GAT2 using alignment to 2 protein entries:     B3GA2_HUMAN (see all proteins):
    DKFZp547E046    B3GAT3    B3GAT1

    B3GAT2 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

    10/1828 SNPs in B3GAT2 are shown (see all 1828)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1819868651,2
    --71572266(+) GGTATG/TTGGGG 1 -- int10--------
    rs1868764171,2
    --71572294(+) GATATA/CAGGCC 1 -- int10--------
    rs1487060561,2
    --71572415(+) CATCTA/GTAATC 1 -- int10--------
    rs1914669751,2
    --71572492(+) GCATAA/GTGAGA 1 -- int10--------
    rs1380982191,2
    C--71572513(+) CAAAA-/AATAATAC 1 -- cds10--------
    rs1422665471,2
    --71572566(+) TCCCAA/GCTACT 1 -- int10--------
    rs1179905181,2
    F--71572771(+) GCCATC/TTCAGC 1 -- int11Minor allele frequency- T:0.03NA 120
    rs1512858651,2
    --71572810(+) CCCTGC/GATCTC 1 -- int10--------
    rs20384771,2
    C,F,A,H--71573109(+) ATAACG/ATGGTA 1 -- int129Minor allele frequency- A:0.34NS EA NA CSA WA 2909
    rs1426829061,2
    C--71573372(+) CTCAA-/TGTT  
            
    TGATG
    1 -- int10--------

    HapMap Linkage Disequilibrium report for B3GAT2 (71566382 - 71666788 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for B3GAT2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2676925CNV Deletion23128226
    esv2732255CNV Deletion23290073
    nsv886148CNV Loss21882294
    nsv823726CNV Loss20364138
    esv275097CNV Loss21479260
    nsv482946CNV Gain15286789
    nsv525542CNV Gain19592680

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    (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: 607497    OMIM disorders: --

    7 diseases for B3GAT2:    About MalaCards
    drug-induced hepatitis    gilbert syndrome    morquio syndrome b    autoimmune hepatitis
    hepatitis    schizophrenia    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for B3GAT2:
    Bilirubin metabolic disorder

    B3GAT2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): B3GAT2
    Human Genome Epidemiology (HuGE) Navigator: B3GAT2 (4 documents)

    Export disorders for B3GAT2 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 B3GAT2 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with B3GAT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of GlcAT-S, a human glucuronyltransferase, involved in the biosynthesis of the HNK-1 carbohydrate epitope. (PubMed id 16897771)1, 2, 9 Shiba T....Kato R. (2006)
    2. Genome-wide association study identifies genetic vari ants influencing F-cell levels in sickle-cell patients. (PubMed id 21326311)1, 4 Bhatnagar P....Keefer J.R. (2011)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    6. Cloning, characterization, and chromosome mapping of the human GlcAT- S gene. (PubMed id 12522689)1, 2 Marcos I.... Antinolo G. (2002)
    7. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)1, 2 Nagase T.... Ohara O. (2001)
    8. Different acceptor specificities of two glucuronyltransferases involved in the biosynthesis of HNK-1 carbohydrate. (PubMed id 15470230)1, 9 Kakuda S....Kawasaki T. (2005)
    9. Purification and characterization of two recombinant human glucuronyltransferases involved in the biosynthesis of HNK-1 carbohydrate in Escherichia coli. (PubMed id 15039073)1, 9 Kakuda S....Kawasaki T. (2004)
    10. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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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: 135152 HGNC: 922 AceView: B3GAT2 Ensembl:ENSG00000112309 euGenes: HUgn135152
    ECgene: B3GAT2 Kegg: 135152 H-InvDB: B3GAT2

    (According to HUGE)
    About This Section
    HUGE: KIAA1963

    (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 B3GAT2 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 B3GAT2 gene:
    Search GeneIP for patents involving B3GAT2

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



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