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

B4GALT6 Gene

protein-coding   GIFtS: 57
GCID: GC18M029226

UDP-Gal:BetaGlcNAc Beta 1,4- 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)
About This Section

Aliases
UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 61 2     Beta-1,4-Galactosyltransferase 62
Beta-1,4-GalTase 62 3     beta4Gal-T62
UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 62 3     beta4GalT-VI2
UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 62 3     UDP-Gal:Glucosylceramide Beta-1,4-Galactosyltransferase2
4-galactosyltransferase1     Beta4Gal-T63
UDP-Gal:Glucosylceramide Beta-11     EC 2.4.1.-3
B4Gal-T62     b4Gal-T63

External Ids:    HGNC: 9291   Entrez Gene: 93312   Ensembl: ENSG000001182767   OMIM: 6040175   UniProtKB: Q9UBX83   

Export aliases for B4GALT6 gene to outside databases

Previous GC identifers: GC18M029022 GC18M027455 GC18M027457 GC18M026059


(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 B4GALT6 Gene:
This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound
glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer
galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct
function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane
proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and
which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form
four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The
enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis. (provided by
RefSeq, Jul 2008)

GeneCards Summary for B4GALT6 Gene: 
B4GALT6 (UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6) is a protein-coding gene. Diseases associated with B4GALT6 include prostate carcinoma in situ, and congenital disorder of glycosylation, and among its related super-pathways are Sphingolipid metabolism and Metabolic pathways. GO annotations related to this gene include UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity and galactosyltransferase activity. An important paralog of this gene is B4GALT5.

UniProtKB/Swiss-Prot: B4GT6_HUMAN, Q9UBX8
Function: Required for the biosynthesis of glycosphingolipids




(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_000018.9  NT_010966.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the B4GALT6 gene promoter:
         AhR   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   CUTL1   POU3F2   E47   RORalpha1   POU2F1   POU2F1a   HFH-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): B4GALT6 promoter sequence
   Search SABiosciences Chromatin IP Primers for B4GALT6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B4GALT6


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

Entrez Gene cytogenetic band: 18q11   Ensembl cytogenetic band:  18q12.1   HGNC cytogenetic band: 18q11

B4GALT6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B4GALT6 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M029226:  view genomic region     (about GC identifiers)

Start:
29,202,209 bp from pter      End:
29,265,799 bp from pter
Size:
63,591 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: B4GT6_HUMAN, Q9UBX8 (See protein sequence)
Recommended Name: Beta-1,4-galactosyltransferase 6  
Size: 382 amino acids; 44914 Da
Cofactor: Manganese or magnesium
Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Trans
cisternae of Golgi stack
Secondary accessions: O60514

Explore the universe of human proteins at neXtProt for B4GALT6: NX_Q9UBX8

Explore proteomics data for B4GALT6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UBX8

  • B4GALT6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    B4GALT6 Protein Expression
    REFSEQ proteins: NP_004766.2  
    ENSEMBL proteins: 
     ENSP00000306459   ENSP00000237019   ENSP00000372613   ENSP00000463961  
    Reactome Protein details: Q9UBX8
    Human Recombinant Protein Products for B4GALT6: 
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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:0016021integral to membrane IEA--
    GO:0032580Golgi cisterna membrane IEA--

    B4GALT6 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: 
    B4GT: Beta 4-glycosyltransferases

    1 InterPro protein domain:
     IPR003859 Galactosyl_T_2_met

    Graphical View of Domain Structure for InterPro Entry Q9UBX8

    ProtoNet protein and cluster: Q9UBX8

    1 Blocks protein domain: IPB003859 Metazoa galactosyltransferase

    UniProtKB/Swiss-Prot: B4GT6_HUMAN, Q9UBX8
    Similarity: Belongs to the glycosyltransferase 7 family


    B4GALT6 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: B4GT6_HUMAN, Q9UBX8
    Function: Required for the biosynthesis of glycosphingolipids
    Catalytic activity: UDP-galactose + glucosylceramide = UDP + lactosylceramide
    Catalytic activity: UDP-alpha-D-galactose + beta-D-glucosyl-(1<->1)-ceramide = UDP +
    beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide
    Enzyme regulation: Inhibited by EDTA (By similarity)
    Biophysicochemical properties: Kinetic parameters: KM=3 uM for glucosylceramide; KM=0.5 uM for UDP-galactose;
    Vmax=0.06 nmol/h/mg enzyme toward glucosylceramide; Vmax=86 nmol/h/mg enzyme toward UDP-galactose;

         Genatlas biochemistry entry for B4GALT6:
    UDP galactose

         Enzyme Number (IUBMB): EC 2.4.1.-1

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008378galactosyltransferase activity TAS9597550
    GO:0008489UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity IEA--
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0046872metal ion binding IEA--
         
    B4GALT6 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for B4galt6):
     normal 

    B4GALT6 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for B4GALT6 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidB4GALT6 3' UTR sequence
    Inhib. RNA
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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 B4GALT6 About   (see all 10)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Sphingolipid metabolism
    Sphingolipid metabolism0.63
    Sphingolipid Metabolism0.42
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3MPS IIIC - Sanfilippo syndrome C
    MPS IIIC - Sanfilippo syndrome C0.48
    Glycosaminoglycan metabolism0.48
    MPS IV - Morquio syndrome A0.48
    MPS IIID - Sanfilippo syndrome D0.48
    MPS VI - Maroteaux-Lamy syndrome0.48
    MPS I - Hurler syndrome0.48
    MPS IV - Morquio syndrome B0.48
    MPS IX - Natowicz syndrome0.48
    4Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation0.77
    Post-translational protein modification0.44
    WNT ligand biogenesis and trafficking0.77
    Metabolism of proteins0.35
    Signaling by Wnt0.62
    5N-glycan antennae elongation in the medial/trans-Golgi
    N-glycan antennae elongation in the medial/trans-Golgi0.75
    Transport to the Golgi and subsequent modification0.56
    N-Glycan antennae elongation0.75

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for B4GALT6
        Sperm Motility

    1 BioSystems Pathway for B4GALT6
        Sphingolipid Metabolism

    5/28        Reactome Pathways for B4GALT6 (see all 28)
        MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    Keratan sulfate/keratin metabolism
    Transport to the Golgi and subsequent modification


    2         Kegg Pathways  (Kegg details for B4GALT6):
        Sphingolipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: B4GT6_HUMAN, Q9UBX8
    Pathway: Protein modification; protein glycosylation


    B4GALT6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for B4GALT6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for B4GALT6 (ENSP000003064594) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GBAENSP000003145084STRING: ENSP00000314508
    UGCGENSP000003633974STRING: ENSP00000363397
    A4GALTENSP000002490054STRING: ENSP00000249005
    B3GNT5ENSP000003161734STRING: ENSP00000316173
    B4GALNT1ENSP000003415624STRING: ENSP00000341562
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0018146keratan sulfate biosynthetic process TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0042339keratan sulfate metabolic process TAS--

    B4GALT6 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

    B4GALT6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for B4GALT6 (B4GT6)

    10/45 HMDB Compounds for B4GALT6 (see all 45)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
    3-O-Sulfogalactosylceramide (d18:1/26:1(17Z))Sulfatide (d18:1/26:1(17Z)) (see all 13)928346-40-1--

    7 Novoseek inferred chemical compound relationships for B4GALT6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    laccer 96.7 36 19219548 (4), 8175761 (3), 18393821 (3), 16151023 (2) (see all 15)
    lactosylceramide 96.4 29 10320813 (4), 8175761 (2), 15936020 (2), 8808768 (1) (see all 19)
    glucosylceramide 92.4 18 7592537 (1), 8808768 (1), 11740154 (1), 19411660 (1) (see all 14)
    glycosphingolipid 86 2 15611100 (1), 8175761 (1)
    shiga toxin 81.5 3 15633106 (1)
    ceramide 76.6 5 11740154 (1), 8781979 (1), 12232838 (1), 16100442 (1) (see all 5)
    galactose 40.6 2 15633106 (1), 10320813 (1)

    Search CenterWatch for drugs/clinical trials and news about B4GALT6 / B4GT6

    (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,
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    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 B4GALT6 gene: 
    NM_004775.3  

    Unigene Cluster for B4GALT6:

    UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6
    Hs.591063  [show with all ESTs]
    Unigene Representative Sequence: NM_004775
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000578114(uc002kwy.4 uc002kwz.4 uc010dma.3 uc010dmb.3)
    ENST00000306851 ENST00000237019 ENST00000383131 ENST00000579372
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    Additional mRNA sequence: 

    AB024742.2 AB209194.1 AF038664.1 AF069054.1 AF097159.1 AK314860.1 BC069620.1 BC069642.1 
    BC074835.2 BC074884.2 

    5 DOTS entries:

    DT.75147548  DT.100672206  DT.95174538  DT.92418574  DT.95345331 

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

    F07007 BC074835 BF001183 Z40117 BC074884 AA599568 AB024742 BE218836 
    BC069620 AW452091 NM_004775 AI694586 CA391199 AL601725 AW451235 CD654869 
    BE222493 BE910162 AI190692 AI915338 BG706662 BE241586 AF038664 BC069642 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT6    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c
    SP1:                          -                                                         
    SP2:                    -     -                                                         
    SP3:                          -                 -                                       
    SP4:                                      -     -                                       


    ECgene alternative splicing isoforms for B4GALT6

    (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

    B4GALT6 expression in normal human tissues (normalized intensities)      B4GALT6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    B4GALT6 Expression
    About this image


    B4GALT6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 14 entries
             Cerebral Cortex
             postcentral gyrus   
     
     Kidney (Urinary System)    fully expand to see all 3 entries
             Metanephros
             visceral organ/metanephros/pelvis   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             visceral organ   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Midgut
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon

    See B4GALT6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for B4GALT6

    SOURCE GeneReport for Unigene cluster: Hs.591063

    UniProtKB/Swiss-Prot: B4GT6_HUMAN, Q9UBX8
    Tissue specificity: High expression in brain and adrenal gland, lower in liver, lung, colon and peripheral white
    blood cells

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for B4GALT6 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B4galt61 , 5 UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, more1, 5 88.31(n)1
    94.76(a)1
      18 (11.48 cM)5
    563861  NM_019737.21  NP_062711.11 
     206845995 
    chicken
    (Gallus gallus)
    Aves B4GALT61 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more 82.97(n)
    91.03(a)
      421092  NM_001031016.1  NP_001026187.1 
    lizard
    (Anolis carolinensis)
    Reptilia B4GALT66
    Uncharacterized protein
    87(a)
    1 ↔ 1
    GL343207.1(3762842-3774773)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060428.12   -- 78.38(n)    BC060428.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc557302 similar to UDP-GalbetaGlcNAc beta 1,4- galactosyltransferase, more 77.91(n)   393912  BC046890.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG145173 UDP-galactose-glucosylceramide
    beta-1,4-galactosyltransferase
    38(a)
    (best of 2)
      98F5   --
    worm
    (Caenorhabditis elegans)
    Secernentea W02B12.113 n-acetyllactosamine synthase 41(a)   II(11473999-11475645)   --


    ENSEMBL Gene Tree for B4GALT6 (if available)
    TreeFam Gene Tree for B4GALT6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for B4GALT6 gene
    B4GALT52  B4GALT22  B4GALT42  B4GALT12  B4GALT72  B4GALT32  
    5 SIMAP similar genes for B4GALT6 using alignment to 5 protein entries:     B4GT6_HUMAN (see all proteins):
    B4GALT5    B4GALT4    B4GALT1    B4GALT3    B4GALT2

    B4GALT6 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

    10/1144 SNPs in B4GALT6 are shown (see all 1144)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1867778971,2
    C--29201854(+) TCATCA/C/GATACC 1 -- ds50010--------
    rs775639741,2
    C--29202039(+) AAGGTC/GATCTC 1 -- ds50010--------
    rs1502338571,2
    --29202049(+) CCACCC/TGTATT 1 -- ds50010--------
    rs792427211,2
    C,F--29202210(+) AAAGTC/ATTTAG 1 -- ut311Minor allele frequency- A:0.04WA 118
    rs1389546121,2
    C--29202333(+) AGAAGA/CCTTTC 1 -- ut310--------
    rs1919097511,2
    C--29202395(+) TACTAC/TAACCA 1 -- ut310--------
    rs1494223751,2
    C--29202453(+) TACAAC/TAGTAT 1 -- ut310--------
    rs1833043351,2
    --29202535(+) CACTTA/GTAGGA 1 -- ut310--------
    rs1162031171,2
    C,F--29202618(+) AAAGGG/ATATAT 1 -- ut311Minor allele frequency- A:0.04WA 118
    rs1877948631,2
    --29202756(+) AGAATA/TAACTA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for B4GALT6 (29202209 - 29265799 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for B4GALT6:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2716936CNV Deletion23290073
    esv2577449CNV Deletion19546169
    nsv819046CNV Loss19587683
    nsv909519CNV Gain21882294

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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: 604017    OMIM disorders: --

    11 diseases for B4GALT6:    About MalaCards
    prostate carcinoma in situ    congenital disorder of glycosylation    morquio syndrome b    polycystic kidney disease
    kidney disease    lateral sclerosis    amyotrophic lateral sclerosis    endotheliitis
    schizophrenia    prostatitis    melanoma

    2 diseases from the University of Copenhagen DISEASES database for B4GALT6:
    Congenital disorder of glycosylation     Prostate carcinoma in situ

    B4GALT6 for disorders           About GeneDecksing

    Genetic Association Database (GAD): B4GALT6

    Export disorders for B4GALT6 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 B4GALT6 gene, integrated from 9 sources (see all 40):
    (articles sorted by number of sources associating them with B4GALT6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The expanding beta 4-galactosyltransferase gene family: messages from the databanks. (PubMed id 9597550)1, 2, 3 Lo N.-W.... Shaper N.L. (1998)
    2. cDNA cloning and expression of human lactosylceramide synthase. (PubMed id 10320813)1, 2, 9 Takizawa M.... Matsuo N. (1999)
    3. Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. (PubMed id 19451621)1, 4 Landers J.E....Brown R.H. (2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Molecular cloning, genomic organization, and mapping of beta 4GalT- VIb, a brain abundant member of beta 4-galactosyltransferase gene family, to human chromosome 18q12.1. (PubMed id 12180132)1, 3 Fan Y....Zhao S. (2002)
    6. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)1, 2 Amado M.... Clausen H. (1999)
    7. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1 Gevaert K.... Vandekerckhove J. (2003)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    9. Purification of uridine diphosphate-galactose:glucosyl ceramide, beta 1-4 galactosyltransferase from human kidney. (PubMed id 1551920)2 Chatterjee S....Khurana S. (1992)
    10. Characterization of the secreted, native gp120 and gp160 of the human immunodeficiency virus type 1. (PubMed id 2187500)1 Kalyanaraman V.S....Sarngadharan M.G. (1990)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 9331 HGNC: 929 AceView: B4GALT6 Ensembl:ENSG00000118276 euGenes: HUgn9331
    ECgene: B4GALT6 Kegg: 9331 H-InvDB: B4GALT6

    (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 B4GALT6 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_441

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for B4GALT6 gene:
    Search GeneIP for patents involving B4GALT6

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



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