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B3GALNT2 Gene

protein-coding   GIFtS: 49
GCID: GC01M235613

Beta-1,3-N-Acetylgalactosaminyltransferase 2

(Previous names: UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase,...)
  See B3GALNT2-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
Beta-1,3-N-Acetylgalactosaminyltransferase 21 2     Beta-1,3-GalNAc-T23
UDP-GalNAc:BetaGlcNAc Beta-1,3-Galactosaminyltransferase, Polypeptide 21 2     EC 2.4.1.-3
MDDGA112 5     Beta-1,3-N-Acetylgalactosaminyltransferase II3
B3GalNAc-T22     G3GALNT25
beta-1,3-GalNAc-T22     MGC395585
UDP-GalNAc:Beta-1,3-N-Acetylgalactosaminyltransferase 22     EC 2.4.18

External Ids:    HGNC: 285961   Entrez Gene: 1487892   Ensembl: ENSG000001628857   OMIM: 6101945   UniProtKB: Q8NCR03   

Export aliases for B3GALNT2 gene to outside databases

Previous GC identifers: GC01M231940 GC01M233679 GC01M206062


(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 B3GALNT2 Gene:
This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes
GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript
variants that encode different isoforms have been described. (provided by RefSeq, Mar 2013)

GeneCards Summary for B3GALNT2 Gene:
B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2) is a protein-coding gene. Diseases associated with B3GALNT2 include muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11, and muscular dystrophy-dystroglycanopathy , type a, 7. GO annotations related to this gene include acetylgalactosaminyltransferase activity and galactosyltransferase activity. An important paralog of this gene is B3GALT6.

UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0
Function: Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure,
GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any
acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to
synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O-mannose in the biosynthesis of the
phosphorylated O-mannosyl trisaccharide
(N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present
in alpha-dystroglycan, which is required for binding laminin G-like domain-containing extracellular proteins with
high affinity




(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 at NCBI GenBank:
NC_000001.10  NT_167186.2  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the B3GALNT2 gene promoter:
         AML1a   MEF-2   MEF-2A   GATA-6   aMEF-2   NF-Y   CBF(2)   Ik-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for B3GALNT2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat B3GALNT2


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

Entrez Gene cytogenetic band: 1q42.3   Ensembl cytogenetic band:  1q42.3   HGNC cytogenetic band: 1q42.3

B3GALNT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B3GALNT2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M235613:  view genomic region     (about GC identifiers)

Start:
235,610,533 bp from pter      End:
235,667,781 bp from pter
Size:
57,249 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0 (See protein sequence)
Recommended Name: UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2  
Size: 500 amino acids; 56704 Da
Sequence caution: Sequence=AAH16974.1; Type=Erroneous initiation;
Secondary accessions: Q59GR3 Q5TCI3 Q96AL7
Alternative splicing: 2 isoforms:  Q8NCR0-1   Q8NCR0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for B3GALNT2: NX_Q8NCR0

Explore proteomics data for B3GALNT2 at MOPED

Post-translational modifications: 

  • N-glycosylated (Probable)1
  • Glycosylation2 at Asn116, Asn174
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for B3GALNT2 (Q8NCR0)
     GKWQELEY  YKPVEQFILP  SPAYPAFACGSGY 


    See B3GALNT2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001264084.1  NP_689703.1  

    ENSEMBL proteins: 
     ENSP00000355559   ENSP00000477160   ENSP00000315678  

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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 Q8NCR0

    ProtoNet protein and cluster: Q8NCR0

    1 Blocks protein domain: IPB002659 Glycosyl transferase

    UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0
    Similarity: Belongs to the glycosyltransferase 31 family


    Find genes that share domains with B3GALNT2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: B3GL2_HUMAN, Q8NCR0
    Function: Beta-1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure,
    GalNAc-beta-1-3GlcNAc, on N- and O-glycans. Has no galactose nor galactosaminyl transferase activity toward any
    acceptor substrate. Involved in alpha-dystroglycan (DAG1) glycosylation: acts coordinately with GTDC2/POMGnT2 to
    synthesize a GalNAc-beta3-GlcNAc-beta-terminus at the 4-position of protein O-mannose in the biosynthesis of the
    phosphorylated O-mannosyl trisaccharide
    (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present
    in alpha-dystroglycan, which is required for binding laminin G-like domain-containing extracellular proteins with
    high affinity
    Catalytic activity: UDP-N-acetyl-alpha-D-galactosamine +
    N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-mannosylprotein = UDP +
    N-acetyl-beta-D-galactosaminyl-(1->3)-N-acetyl-beta-D-glucosaminyl-(1->4)-O-alpha-D-mannosylprotein
    Biophysicochemical properties: Kinetic parameters: KM=5.4 uM for UDP-GalNAc; KM=11 mM for GlcNAc-beta-Bn;

         Enzyme Numbers (IUBMB): EC 2.4.12 EC 2.4.1.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008375acetylglucosaminyltransferase activity IDA--
    GO:0008376acetylgalactosaminyltransferase activity IDA--
    GO:0008378galactosyltransferase activity IEA--
         
    Find genes that share ontologies with B3GALNT2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for B3GALNT2:
     Decreased viability 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for B3GALNT2

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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
    B3GL2_HUMAN, Q8NCR0: Golgi apparatus membrane; Single-pass type II membrane protein (By similarity). Endoplasmic
    reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    cytosol1
    endoplasmic reticulum1
    extracellular1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005783endoplasmic reticulum IDA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with B3GALNT2           About GenesLikeMe


    (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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    UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0
    Pathway: Protein modification; protein glycosylation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for B3GALNT2
    Interactions:

        Search GeneGlobe Interaction Network for B3GALNT2

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486protein glycosylation IMP--
    GO:0006493protein O-linked glycosylation IDA--

    Find genes that share ontologies with B3GALNT2           About GenesLikeMe



    (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 Tocris compounds for B3GALNT2 (B3GL2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
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    REFSEQ mRNAs for B3GALNT2 gene (2 alternative transcripts): 
    NM_001277155.2  NM_152490.4  

    Unigene Cluster for B3GALNT2:

    Beta-1,3-N-acetylgalactosaminyltransferase 2
    Hs.498143  [show with all ESTs]
    Unigene Representative Sequence: NM_152490
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000366600(uc001hxc.2) ENST00000477694 ENST00000462374 ENST00000478199(uc001hxd.1)
    ENST00000313984 ENST00000494378 ENST00000461994
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    Additional mRNA sequence: 

    AB209046.1 AK130297.1 AK311626.1 BC016974.1 BC029564.1 

    11 DOTS entries:

    DT.40119049  DT.112386  DT.40110379  DT.452426  DT.100018607  DT.121438830  DT.121438647  DT.95236950 
    DT.100789308  DT.100721410  DT.95124398 

    Selected AceView cDNA sequences (see all 117):

    BE296530 AA935168 CA414713 AL041615 AA983214 CA418143 BG030855 AI086269 
    AA992605 CB137615 AA052947 AI382500 AL041616 AA401102 BQ774915 BM127930 
    BM760100 AA398801 BU622323 NM_152490 CB160860 AI289091 BC016974 BG180278 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for B3GALNT2 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
    SP1:              -                 -                 -     -     -           -           -                                                               
    SP2:                                -                 -     -     -           -                                                                           
    SP3:                                                                                                                                            -         
    SP4:              -           -     -                                                                                                                     
    SP5:                                                                          -           -     -                                                         


    ECgene alternative splicing isoforms for B3GALNT2

    (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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    B3GALNT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGAATGTAAC
    B3GALNT2 Expression
    About this image

    B3GALNT2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    B3GALNT2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.498143

    UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0
    Tissue specificity: Expressed in all tissues examined, but at highest levels in testis, adipose tissue, skeletal
    muscle and ovary

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    In Situ
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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 B3GALNT2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B3galnt21 , 5 UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, more1, 5 86.33(n)1
    88.4(a)1
      13 (5.29 cM)5
    978841  NM_178640.21  NP_848755.11 
     139546745 
    chicken
    (Gallus gallus)
    Aves B3GALNT21 beta-1,3-N-acetylgalactosaminyltransferase 2 79.75(n)
    85.31(a)
      430770  XM_419557.4  XP_419557.3 
    lizard
    (Anolis carolinensis)
    Reptilia B3GALNT26
    beta-1,3-N-acetylgalactosaminyltransferase 2
    83(a)
    1 ↔ 1
    1(219429700-219464071)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.184452 Xenopus laevis transcribed sequence with weak similarity more 75.78(n)    BJ629119.1 
    zebrafish
    (Danio rerio)
    Actinopterygii b3galnt21 beta-1,3-N-acetylgalactosaminyltransferase 2 57.06(n)
    53.78(a)
      553716  NM_001020687.1  NP_001018523.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta beta3GalTII6
    Galactosyltransferase II
    18(a)
    1 → many
    2R(4513686-4515116)
    worm
    (Caenorhabditis elegans)
    Secernentea sqv-26
    Protein SQV-2 (sqv-2) mRNA, complete cds
    22(a)
    1 → many
    II(2889104-2894395) WBGene00005020


    ENSEMBL Gene Tree for B3GALNT2 (if available)
    TreeFam Gene Tree for B3GALNT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for B3GALNT2 gene
    B3GALT62  

    Find genes that share paralogs with B3GALNT2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for B3GALNT2
    PGOHUM00000260187


    (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 B3GALNT2 (see all 1137)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0696384
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11)4--see VAR_0696382 G E mis40--------
    VAR_0696414
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11)4--see VAR_0696412 R P mis40--------
    VAR_0358604
    A breast cancer sample4--see VAR_0358602 N S mis40--------
    VAR_0696404
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11)4--see VAR_0696402 V M mis40--------
    VAR_0696394
    Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11)4--see VAR_0696392 V G mis40--------
    rs1449294251,2
    --206064454(+) AACTTC/TAGCAT 1 -- ut310--------
    rs1145860451,2
    C,F--206064474(+) ATGAGT/CACTAA 1 -- ut311Minor allele frequency- C:0.02WA 118
    rs785166511,2
    F--206064821(+) TTTCTA/GAACTA 1 -- ut310--------
    rs741515101,2
    C,F--206064945(+) TCTTCC/TAATAG 1 -- ut312Minor allele frequency- T:0.10WA 120
    rs1819932611,2
    --206064964(+) AAACTA/TTTCTT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for B3GALNT2 (235610533 - 235667781 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for B3GALNT2:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv549n71CNV Gain21882294
    nsv873321CNV Gain21882294
    dgv30n21CNV Gain19592680
    nsv468406CNV Gain19166990
    nsv873322CNV Gain21882294

    Human Gene Mutation Database (HGMD): B3GALNT2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing B3GALNT2
    DNA2.0 Custom Variant and Variant Library Synthesis for B3GALNT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610194   
    OMIM disorders: 615181  
    UniProtKB/Swiss-Prot: B3GL2_HUMAN, Q8NCR0
  • Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]:
    An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone
    lissencephaly and other brain anomalies, eye malformations, profound mental retardation, and death usually in the
    first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe
    muscle-eye-brain disease. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 4 diseases for B3GALNT2:    
    About MalaCards
    muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type a, 11    muscular dystrophy-dystroglycanopathy , type a, 7    muscular dystrophy-dystroglycanopathy , type a, 14    muscular dystrophy-dystroglycanopathy


    Find genes that share disorders with B3GALNT2           About GenesLikeMe


    Export disorders for B3GALNT2 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 B3GALNT2 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with B3GALNT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human beta1,3-N-acetylgalactosaminyltransferase that synthesizes a unique carbohydrate structure, GalNAcbeta1-3GlcNAc. (PubMed id 14724282)1, 2, 3 Hiruma T.... Narimatsu H. (J. Biol. Chem. 2004)
    2. Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of I+-dystroglycan. (PubMed id 23453667)1, 2 Stevens E....Muntoni F. (Am. J. Hum. Genet. 2013)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    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. (Genome Res. 2004)
    5. 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)
    6. SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. (PubMed id 23929950)2 Yoshida-Moriguchi T....Campbell K.P. (Science 2013)
    7. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (J. Proteome Res. 2012)
    8. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    9. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 148789 HGNC: 28596 AceView: MGC39558 Ensembl:ENSG00000162885 euGenes: HUgn148789
    ECgene: B3GALNT2 H-InvDB: B3GALNT2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for B3GALNT2 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GALNT2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for B3GALNT2 gene:
    Search GeneIP for patents involving B3GALNT2

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



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