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B3GALT6 Gene

protein-coding   GIFtS: 55
GCID: GC01P001157

UDP-Gal:BetaGal Beta 1,3-Galactosyltransferase Polypeptide...

(Previous names: UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide...)
  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)
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Aliases
UDP-Gal:BetaGal Beta 1,3-Galactosyltransferase Polypeptide 61 2 3     3-galactosyltransferase-61
UDP-Gal:BetaGlcNAc Beta 1,3-Galactosyltransferase, Polypeptide 61 2     beta-11
Beta-1,3-GalTase 62 3     Beta-1,3-Galactosyltransferase 62
Galactosyltransferase II2 3     beta3Gal-T62
Galactosylxylosylprotein 3-Beta-Galactosyltransferase2 3     beta3GalT62
GAG GalTII2 3     Beta3Gal-T63
EDSP22 5     Beta3GalT63
SEMDJL12 5     EC 2.4.1.1343

External Ids:    HGNC: 179781   Entrez Gene: 1267922   Ensembl: ENSG000001760227   OMIM: 6152915   UniProtKB: Q96L583   

Export aliases for B3GALT6 gene to outside databases

Previous GC identifers: GC01P000694 GC01P000919 GC01P001044 GC01P001073 GC01P001207 GC01P000424


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for B3GALT6 Gene:
The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi
apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal
beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in
the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. (provided by RefSeq,
Jun 2013)

GeneCards Summary for B3GALT6 Gene:
B3GALT6 (UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6) is a protein-coding gene. Diseases associated with B3GALT6 include chancroid, and ehlers-danlos syndrome progeroid type. GO annotations related to this gene include UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity and galactosylxylosylprotein 3-beta-galactosyltransferase activity. An important paralog of this gene is B3GALNT2.

UniProtKB/Swiss-Prot: B3GT6_HUMAN, Q96L58
Function: Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal
beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region
of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with
terminal glucosamine or galactosamine residues




(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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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the B3GALT6 gene promoter:
         STAT1   AP-1   Sp1   Bach2   RelA   MIF-1   NF-kappaB   Pax-4a   NF-kappaB1   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidB3GALT6 promoter sequence
   Search Chromatin IP Primers for B3GALT6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat B3GALT6


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

Entrez Gene cytogenetic band: 1p36.33   Ensembl cytogenetic band:  1p36.33   HGNC cytogenetic band: 1p36.33

B3GALT6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B3GALT6 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P001157:  view genomic region     (about GC identifiers)

Start:
1,167,629 bp from pter      End:
1,170,421 bp from pter
Size:
2,793 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: B3GT6_HUMAN, Q96L58 (See protein sequence)
Recommended Name: Beta-1,3-galactosyltransferase 6  
Size: 329 amino acids; 37138 Da
Cofactor: Manganese
Caution: PubMed:9892646 describes the wrong protein; the cDNAs used had been switched inadvertently
Secondary accessions: Q5T7M5

Explore the universe of human proteins at neXtProt for B3GALT6: NX_Q96L58

Explore proteomics data for B3GALT6 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn131

  • See B3GALT6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_542172.2  
    ENSEMBL proteins: 
     ENSP00000368496  
    Reactome Protein details: Q96L58

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    (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 Q96L58

    ProtoNet protein and cluster: Q96L58

    1 Blocks protein domain: IPB002659 Glycosyl transferase

    UniProtKB/Swiss-Prot: B3GT6_HUMAN, Q96L58
    Similarity: Belongs to the glycosyltransferase 31 family


    B3GALT6 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: B3GT6_HUMAN, Q96L58
    Function: Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal
    beta-linked galactose residue. Has a preference for galactose-beta-1,4-xylose that is found in the linker region
    of glycosaminoglycans, such as heparan sulfate and chondroitin sulfate. Has no activity towards substrates with
    terminal glucosamine or galactosamine residues
    Catalytic activity: UDP-alpha-D-galactose + 4-beta-D-galactosyl-O-beta-D-xylosyl-[protein] = UDP +
    3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosyl-[protein]

         Enzyme Number (IUBMB): EC 2.4.1.1341

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008378galactosyltransferase activity ----
    GO:0008499UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity IEA--
    GO:0035250UDP-galactosyltransferase activity IDA11551958
    GO:0047220galactosylxylosylprotein 3-beta-galactosyltransferase activity IEA--
         
    B3GALT6 for ontologies           About GeneDecksing


    Animal Models:
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    hsa-miR-148b* hsa-miR-338-5p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidB3GALT6 3' UTR sequence
    Inhib. RNA
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    (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
    B3GT6_HUMAN, Q96L58: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    mitochondrion2
    extracellular1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005797Golgi medial cisterna IDA11551958
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0032580Golgi cisterna membrane IEA--

    B3GALT6 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 B3GALT6 About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Chondroitin sulfate/dermatan sulfate metabolism
    Chondroitin sulfate/dermatan sulfate metabolism0.51
    Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate0.00
    A tetrasaccharide linker sequence is required for GAG synthesis0.51
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    4heparan sulfate biosynthesis
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin0.79
    5Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.57

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for B3GALT6
        A tetrasaccharide linker sequence is required for GAG synthesis


    3 Kegg Pathways  (Kegg details for B3GALT6):
        Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin
    Metabolic pathways

    UniProtKB/Swiss-Prot: B3GT6_HUMAN, Q96L58
    Pathway: Glycan metabolism; chondroitin sulfate biosynthesis
    Pathway: Glycan metabolism; heparan sulfate biosynthesis


    B3GALT6 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for B3GALT6
    Interactions:

        Search GeneGlobe Interaction Network for B3GALT6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for B3GALT6 (Q96L583 ENSP000003684964) via UniProtKB, MINT, STRING, and/or I2D (see all 24)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SQSTM1Q135013I2D: score=1 
    B3GAT1ENSP000003078754STRING: ENSP00000307875
    B3GAT2ENSP000002300534STRING: ENSP00000230053
    B3GAT3ENSP000002654714STRING: ENSP00000265471
    B4GALT7ENSP000000294104STRING: ENSP00000029410
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006024glycosaminoglycan biosynthetic process IMP11551958
    GO:0006486protein glycosylation IEA--
    GO:0015012heparan sulfate proteoglycan biosynthetic process IEA--
    GO:0030203glycosaminoglycan metabolic process TAS--

    B3GALT6 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
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    Browse Tocris compounds for B3GALT6 (B3GT6)

    4 HMDB Compounds for B3GALT6    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChondroitinChondroitin-D-glucuronate (see all 5)9007-27-6--
    Heparan sulfateHHS 5 (see all 13)9050-30-0--
    Manganesemanganese 7439-96-5--
    Poly-N-acetyllactosaminePoly(N-acetyllactosamine) (see all 6)82441-98-3--



    (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,
    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 B3GALT6 gene: 
    NM_080605.3  

    Unigene Cluster for B3GALT6:

    UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
    Hs.284284  [show with all ESTs]
    Unigene Representative Sequence: NM_080605
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000379198(uc001adk.3)
    miRNA
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    hsa-miR-148b* hsa-miR-338-5p hsa-miR-340
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    Additional mRNA sequence: 

    BC015549.1 BC041621.1 BC051719.1 

    3 DOTS entries:

    DT.451659  DT.75102664  DT.121376401 

    Selected AceView cDNA sequences (see all 101):

    BC041621 BC015549 BF196927 NM_080605 BF590665 CF145485 BM976581 AA358615 
    CA425703 BE675787 BU624451 AI890557 AI220144 BU528237 AA236572 BP340495 
    AI953613 AI278266 AI355607 AA749073 CD106998 AA729674 AI924627 CF145713 

    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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    B3GALT6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGATTTTGGT
    B3GALT6 Expression
    About this image


    B3GALT6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Inner Cell Mass (Early Embryonic Tissues)
             Blimp1- mVenus and stella-ECFP genetically modified stem cells
    B3GALT6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    B3GALT6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.284284

    UniProtKB/Swiss-Prot: B3GT6_HUMAN, Q96L58
    Tissue specificity: Ubiquitous

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    In Situ
    Assay Products:
     

     
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for B3GALT6 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B3galt61 , 5 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide more1, 5 82.42(n)1
    85.76(a)1
      4 (87.66 cM)5
    1175921  NM_080445.41  NP_536693.11 
     1559894665 
    chicken
    (Gallus gallus)
    Aves B3GALT61 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide more 69.99(n)
    70.42(a)
      428185  XM_004947428.1  XP_004947485.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.187712 Transcribed sequence with moderate similarity to protein more 77.13(n)    BX769613.1 
    zebrafish
    (Danio rerio)
    Actinopterygii b3galt61 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide more 62.92(n)
    65.27(a)
      572324  NM_001045225.1  NP_001038690.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG87343
    beta3GalTII1
    chondroitin sulfate biosynthesis
    transferase, more3
    Galactosyltransferase II1
    42(a)3
    53.27(n)1
    44.2(a)1
      44D53
    358481  NM_136555.31  NP_610399.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y110A2AL.143
    sqv-21
    sqv-21 42(a)3
    49.29(n)1
    47.49(a)1
      II(2889216-2894374)3
    1736351  NM_061993.51  NP_494394.11 


    ENSEMBL Gene Tree for B3GALT6 (if available)
    TreeFam Gene Tree for B3GALT6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for B3GALT6 gene
    B3GALNT22  

    B3GALT6 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 B3GALT6 (see all 48)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0701364
    Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)4--see VAR_0701362 D N mis40--------
    VAR_0701324
    Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2)4--see VAR_0701322 R W mis40--------
    VAR_0701394
    Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)4--see VAR_0701392 R C mis40--------
    VAR_0701384
    Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)4--see VAR_0701382 G S mis40--------
    VAR_0701334
    Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)4--see VAR_0701332 S G mis40--------
    VAR_0701414
    Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2)4--see VAR_0701412 S T mis40--------
    VAR_0701344
    Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)4--see VAR_0701342 P L mis40--------
    VAR_0701374
    Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)4--see VAR_0701372 D H mis40--------
    VAR_0701404
    Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1)4--see VAR_0701402 C S mis40--------
    rs455918401,2
    C,F--1169728(+) CATGGG/TTTTGG 1 -- ut311Minor allele frequency- T:0.02NA 120

    HapMap Linkage Disequilibrium report for B3GALT6 (1167629 - 1170421 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for B3GALT6 (see all 32):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv470680CNV Loss18288195
    nsv871680CNV Loss21882294
    nsv482937CNV Loss15286789
    dgv12n71CNV Loss21882294
    dgv25n71CNV Loss21882294
    dgv21n71CNV Loss21882294
    nsv871965CNV Loss21882294
    dgv26n71CNV Loss21882294
    dgv11n71CNV Loss21882294
    dgv17n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): B3GALT6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing B3GALT6
    DNA2.0 Custom Variant and Variant Library Synthesis for B3GALT6

    (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.)
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    OMIM gene information: 615291   
    OMIM disorders: 271640  615349  
    UniProtKB/Swiss-Prot: B3GT6_HUMAN, Q96L58
  • Ehlers-Danlos syndrome, progeroid type, 2 (EDSP2) [MIM:615349]: A variant form of Ehlers-Danlos syndrome
    characterized by an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized
    osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures (SEMDJL1) [MIM:271640]:
    A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment
    and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death.
    Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet,
    and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface,
    prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are
    also observed. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for B3GALT6:    
    About MalaCards
    chancroid    ehlers-danlos syndrome progeroid type    spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures    ehlers-danlos syndrome, progeroid type, 1
    morquio syndrome b    sly syndrome    mucopolysaccharidoses


    B3GALT6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): B3GALT6
    Human Genome Epidemiology (HuGE) Navigator: B3GALT6 (3 documents)

    Export disorders for B3GALT6 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 B3GALT6 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with B3GALT6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6). (PubMed id 11551958)1, 2, 3, 9 Bai X.... Esko J.D. (J. Biol. Chem. 2001)
    2. Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. (PubMed id 23664118)1, 2 Malfait F....De Paepe A. (Am. J. Hum. Genet. 2013)
    3. Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. (PubMed id 23664117)1, 2 Nakajima M.... Ikegawa S. (Am. J. Hum. Genet. 2013)
    4. 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)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    6. A beta-1,3-N-acetylglucosaminyltransferase with poly-N- acetyllactosamine synthase activity is structurally related to beta- 1,3-galactosyltransferases. (PubMed id 9892646)1, 2 Zhou D.... Hennet T. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    8. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    9. 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)
    10. A protein interaction framework for human mRNA degradation. (PubMed id 15231747)1 Lehner B. and Sanderson C.M. (Genome Res. 2004)

    (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

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    Entrez Gene: 126792 HGNC: 17978 AceView: B3GALT6 Ensembl:ENSG00000176022 euGenes: HUgn126792
    ECgene: B3GALT6 Kegg: 126792 H-InvDB: B3GALT6

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for B3GALT6 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GALT6
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_433

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for B3GALT6 gene:
    Search GeneIP for patents involving B3GALT6

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



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