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

B4GALT4 Gene

protein-coding   GIFtS: 60
GCID: GC03M118930

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 41 2     Beta-N-Acetylglucosaminyl-Glycolipid Beta-1,4-Galactosyltransferase 42
Beta-1,4-GalTase 42 3     beta4Gal-T42
UDP-Gal:Beta-GlcNAc Beta-1,4-Galactosyltransferase 42 3     UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase 42
UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,4-Galactosyltransferase 42 3     Beta4Gal-T43
B4Gal-T42     EC 2.4.1.-3
Beta-1,4-Galactosyltransferase 42     b4Gal-T43

External Ids:    HGNC: 9271   Entrez Gene: 87022   Ensembl: ENSG000001215787   OMIM: 6040155   UniProtKB: O605133   

Export aliases for B4GALT4 gene to outside databases

Previous GC identifers: GC03M115619 GC03M118559 GC03M120211 GC03M120251 GC03M120413 GC03M116306


(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 B4GALT4 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 appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced
transcript variants have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for B4GALT4 Gene: 
B4GALT4 (UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4) is a protein-coding gene. Diseases associated with B4GALT4 include morquio syndrome b, and acne, and among its related super-pathways are Keratan sulfate/keratin metabolism and Metabolic pathways. GO annotations related to this gene include N-acetyllactosamine synthase activity and galactosyltransferase activity. An important paralog of this gene is B4GALT5.

UniProtKB/Swiss-Prot: B4GT4_HUMAN, O60513
Function: Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as
the carbohydrate moieties of glycolipids

Gene Wiki entry for B4GALT4 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_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the B4GALT4 gene promoter:
         GATA-3   Nkx2-5   GATA-2   GATA-1   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): B4GALT4 promoter sequence
   Search SABiosciences Chromatin IP Primers for B4GALT4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat B4GALT4


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

Entrez Gene cytogenetic band: 3q13.3   Ensembl cytogenetic band:  3q13.32   HGNC cytogenetic band: 3q13.3

B4GALT4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B4GALT4 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M118930:  view genomic region     (about GC identifiers)

Start:
118,930,579 bp from pter      End:
118,959,950 bp from pter
Size:
29,372 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: B4GT4_HUMAN, O60513 (See protein sequence)
Recommended Name: Beta-1,4-galactosyltransferase 4  
Size: 344 amino acids; 40041 Da
Cofactor: Manganese (By similarity)
Subcellular location: Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Note=Trans
cisternae of Golgi stack
Secondary accessions: Q68D68 Q9BSW3 Q9C078

Explore the universe of human proteins at neXtProt for B4GALT4: NX_O60513

Explore proteomics data for B4GALT4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O60513

  • B4GALT4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    B4GALT4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_003769.1  NP_997708.1  

    ENSEMBL proteins: 
     ENSP00000420161   ENSP00000417226   ENSP00000417527   ENSP00000352144   ENSP00000377360  
     ENSP00000420665   ENSP00000419919   ENSP00000417188   ENSP00000417958   ENSP00000420535  
     ENSP00000418436   ENSP00000419916   ENSP00000419275   ENSP00000418278  
    Reactome Protein details: O60513
    Human Recombinant Protein Products for B4GALT4: 
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    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--

    B4GALT4 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 O60513

    ProtoNet protein and cluster: O60513

    1 Blocks protein domain: IPB003859 Metazoa galactosyltransferase

    UniProtKB/Swiss-Prot: B4GT4_HUMAN, O60513
    Similarity: Belongs to the glycosyltransferase 7 family


    B4GALT4 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: B4GT4_HUMAN, O60513
    Function: Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as
    the carbohydrate moieties of glycolipids
    Catalytic activity: UDP-alpha-D-galactose + N-acetyl-D-glucosamine = UDP + N-acetyllactosamine
    Catalytic activity: UDP-alpha-D-galactose +
    N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide = UDP +
    beta-D-galactosyl-(1->4)-N-acetyl-beta-D-galactosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1)-ceramide
    Biophysicochemical properties: Kinetic parameters: KM=238 uM for GlcNAc-B-S-pNP;

         Genatlas biochemistry entry for B4GALT4:
    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:0003945N-acetyllactosamine synthase activity IEA--
    GO:0008378galactosyltransferase activity TAS9792633
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0046872metal ion binding IEA--
         
    B4GALT4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for B4GALT4:
     Increased gamma-H2AX phosphory 

    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 B4GALT4 About   (see all 9)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Keratan sulfate biosynthesis
    Keratan sulfate biosynthesis0.82
    Glycosaminoglycan biosynthesis - keratan sulfate0.43
    Keratan sulfate/keratin metabolism0.82
    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 B4GALT4
        Sperm Motility

    5/27        Reactome Pathways for B4GALT4 (see all 27)
        MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    Keratan sulfate/keratin metabolism
    Transport to the Golgi and subsequent modification


    3         Kegg Pathways  (Kegg details for B4GALT4):
        Glycosaminoglycan biosynthesis - keratan sulfate
    Glycosphingolipid biosynthesis - lacto and neolacto series
    Metabolic pathways

    UniProtKB/Swiss-Prot: B4GT4_HUMAN, O60513
    Pathway: Protein modification; protein glycosylation


    B4GALT4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for B4GALT4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/17 Interacting proteins for B4GALT4 (ENSP000003521444) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    B3GNT2ENSP000003055954STRING: ENSP00000305595
    FUT2ENSP000003757484STRING: ENSP00000375748
    B3GALT1ENSP000003037404STRING: ENSP00000303740
    B3GALT2ENSP000003564044STRING: ENSP00000356404
    B3GALT5ENSP000003433184STRING: ENSP00000343318
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006643membrane lipid metabolic process TAS9792633
    GO:0018146keratan sulfate biosynthetic process TAS--
    GO:0018279protein N-linked glycosylation via asparagine TAS--
    GO:0030203glycosaminoglycan metabolic process TAS--

    B4GALT4 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
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for B4GALT4 (B4GT4)

    5 HMDB Compounds for B4GALT4    About this table
    CompoundSynonyms CAS #PubMed Ids
    Manganesemanganese 7439-96-5--
    N-Acetyl-D-glucosamine2-(acetylamino)-2-deoxyhexose (see all 9)7512-17-6--
    N-AcetyllactosamineD-galactopyranosyl (see all 8)32181-59-2--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphategalactoseGDU (see all 39)2956-16-3--

    1 DrugBank Compound for B4GALT4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    N-Acetyl-D-glucosamine2-Acetamido-2-deoxy-D-glucose (see all 4)7512-17-6target--11948877 17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about B4GALT4 / B4GT4

    (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 B4GALT4 gene (2 alternative transcripts): 
    NM_003778.3  NM_212543.1  

    Unigene Cluster for B4GALT4:

    UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4
    Hs.13225  [show with all ESTs]
    Unigene Representative Sequence: BC062618
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000483209(uc003ecg.3) ENST00000467604(uc003ece.1) ENST00000471675
    ENST00000359213(uc003ech.3 uc011biy.1) ENST00000393765(uc003eci.3)
    ENST00000480814 ENST00000460321 ENST00000491906 ENST00000475803 ENST00000479150
    ENST00000470111 ENST00000493932 ENST00000473887 ENST00000459778 ENST00000459820
    ENST00000460395 ENST00000472471 ENST00000484595
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    Additional mRNA sequence: 

    AB024436.1 AF020920.1 AF022367.1 AF038662.1 AK001006.1 AK301688.1 AK314425.1 AY359008.1 
    BC004523.2 BC062618.1 CR749555.1 

    20 DOTS entries:

    DT.100781999  DT.91720381  DT.99944653  DT.453314  DT.120875620  DT.120875594  DT.99985352  DT.120875597 
    DT.91720382  DT.120875588  DT.120875612  DT.120875599  DT.120875605  DT.120875619  DT.120875621  DT.120875583 
    DT.120875593  DT.120875596  DT.120875600  DT.100692235 

    24/276 AceView cDNA sequences (see all 276):

    BP335827 BP375217 BP363762 BP373383 AI056532 AA443349 BP336769 AA031686 
    BP337521 BI755758 BP373064 AI074981 AI926907 BP336372 BQ026671 BP336934 
    BP372960 BF814627 CR626075 AA046963 BP337750 AB024436 NM_003778 BP351505 

    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for B4GALT4 (see all 17)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d · 10e · 10f · 10g · 10h ^ 11a · 11b · 11c ^
    SP1:                                                  -     -           -     -     -     -                                                                     
    SP2:                                                                    -           -     -                                                                     
    SP3:                                                                    -     -     -     -                                                                     
    SP4:                          -     -     -           -     -           -           -     -                                                                     
    SP5:                          -     -     -     -     -     -           -           -     -                                                                     

    ExUns: 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16
    SP1:              -                 -         
    SP2:              -                 -         
    SP3:              -                           
    SP4:                                          
    SP5:                                          


    ECgene alternative splicing isoforms for B4GALT4

    (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

    B4GALT4 expression in normal human tissues (normalized intensities)      B4GALT4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGTTAAAT
    B4GALT4 Expression
    About this image


    B4GALT4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
             Foregut
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Esophagus (Gastrointestinal Tract)

    See B4GALT4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for B4GALT4

    SOURCE GeneReport for Unigene cluster: Hs.13225

    UniProtKB/Swiss-Prot: B4GT4_HUMAN, O60513
    Tissue specificity: High expression in heart, placenta, kidney and pancreas; lower in brain, colon, lung, muscle,
    ovary, testis and uterus

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

    This gene was present in the common ancestor of chordates.

    Orthologs for B4GALT4 gene from 5/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B4galt41 , 5 UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, more1, 5 83.43(n)1
    83.43(a)1
      16 (26.87 cM)5
    563751  NM_019804.31  NP_062778.21 
     387422645 
    chicken
    (Gallus gallus)
    Aves B4GALT41 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, more 70.47(n)
    71.47(a)
      418341  XM_416563.2  XP_416563.1 
    lizard
    (Anolis carolinensis)
    Reptilia B4GALT46
    Uncharacterized protein
    67(a)
    1 ↔ 1
    3(181298091-181314705)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.152192 Xenopus laevis transcribed sequence with moderate similarity more 77.07(n)    BJ043501.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570870032   -- 72.1(n)    57087003 


    ENSEMBL Gene Tree for B4GALT4 (if available)
    TreeFam Gene Tree for B4GALT4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for B4GALT4 gene
    B4GALT52  B4GALT22  B4GALT12  B4GALT72  B4GALT62  B4GALT32  
    5 SIMAP similar genes for B4GALT4 using alignment to 11 protein entries:     B4GT4_HUMAN (see all proteins):
    B4GALT3    B4GALT2    B4GALT1    B4GALT5    B4GALT6

    B4GALT4 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

    10/723 SNPs in B4GALT4 are shown (see all 723)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs358546821,2
    C--116335613(+) TAATA-/ATATTTTT 2 -- us2k11Minor allele frequency- ATA:0.00NA 2
    rs726559491,2
    C,F--118930114(-) TGAAAC/TGTTTA 2 -- ds50012Minor allele frequency- T:0.01NS WA 874
    rs726559481,2
    C,F--118930145(-) GAATTT/GGAAAG 2 -- ds50012Minor allele frequency- G:0.00NS WA 876
    rs726559471,2
    C--118930273(-) TAACAA/-GAATG 2 -- ds50012Minor allele frequency- -:0.01NS CSA 748
    rs1422854071,2
    --118930303(+) TCATAA/CAATAA 2 -- ds50010--------
    rs64385031,2
    C,F,A,H--118930386(+) ATGGAC/TGGGCC 2 -- ds500131Minor allele frequency- N:0.00EA NA NS WA CSA 3321
    rs1467766601,2
    --118930460(+) AAGGAA/CGGGAG 2 -- ds50010--------
    rs126306901,2
    C,F,H--118930464(+) ACGGGA/TGACAG 2 -- ds500129Minor allele frequency- T:0.23NA NS EA WA 3598
    rs726559461,2
    C,F--118930482(-) CAAAGC/GCCTCC 2 -- ds50012Minor allele frequency- G:0.01NS WA 864
    rs358162341,2
    C,F--118930483(+) GAGGGC/TTTTGT 2 -- ds50016Minor allele frequency- T:0.12NA NS WA EA 1108

    HapMap Linkage Disequilibrium report for B4GALT4 (118930579 - 118959950 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for B4GALT4:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv25249CNV Loss19812545

    SABiosciences Cancer Mutation PCR Assays
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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: 604015    OMIM disorders: --

    2 diseases for B4GALT4:    About MalaCards
    morquio syndrome b    acne


    B4GALT4 for disorders           About GeneDecksing


    Export disorders for B4GALT4 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 B4GALT4 gene, integrated from 9 sources (see all 21):
    (articles sorted by number of sources associating them with B4GALT4)
        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. 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)
    3. 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 Clark H.F.... Gray A.M. (2003)
    4. Galactosylation of N-linked oligosaccharides by human beta-1,4- galactosyltransferases I, II, III, IV, V, and VI expressed in Sf-9 cells. (PubMed id 11588157)1, 2 Guo S.... Furukawa K. (2001)
    5. Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. (PubMed id 10580128)1, 2 Amado M.... Clausen H. (1999)
    6. Cloning of a novel member of the UDP-galactose:beta-N- acetylglucosamine beta1,4-galactosyltransferase family, beta4Gal-T4, involved in glycosphingolipid biosynthesis. (PubMed id 9792633)1, 2 Schwientek T....Clausen H. (1998)
    7. Chemoenzymatic synthesis of biotinylated nucleotide sugars as substrates for glycosyltransferases. (PubMed id 11948877)7, 9 Bulter T....Elling L. (2001)
    8. Comparison of HPLC/ESI-FTICR MS versus MALDI-TOF/TOF M S for glycopeptide analysis of a highly glycosylated HIV envelope glycoprotein. (PubMed id 18565761)1 Irungu J....Desaire H. (2008)
    9. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    10. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)

    (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: 8702 HGNC: 927 AceView: B4GALT4 Ensembl:ENSG00000121578 euGenes: HUgn8702
    ECgene: B4GALT4 Kegg: 8702 H-InvDB: B4GALT4

    (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 B4GALT4 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_439

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for B4GALT4 gene:
    Search GeneIP for patents involving B4GALT4

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



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