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Aliases for B3GNT2 Gene

Aliases for B3GNT2 Gene

  • UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 2 2 3 4 5
  • UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 1 2 3
  • Beta-1,3-Gn-T1 3 4
  • Beta-1,3-Gn-T2 3 4
  • Beta3Gn-T1 3 4
  • Beta3Gn-T2 3 4
  • B3GNT1 3 4
  • BGnT-2 3 4
  • UDP-Galactose:Beta-N-Acetylglucosamine Beta-1,3-Galactosyltransferase 7 4
  • UDP-Gal:Beta-GlcNAc Beta-1,3-Galactosyltransferase 7 4
  • Beta-1,3-N-Acetylglucosaminyltransferase BGnT-1 3
  • Beta-1,3-N-Acetylglucosaminyltransferase BGnT-2 3
  • Beta-1,3-N-Acetylglucosaminyltransferase 1 4
  • Beta-1,3-N-Acetylglucosaminyltransferase 2 4
  • Beta-1,3-Galactosyltransferase 7 4
  • Beta-1,3-GalTase 7 4
  • Beta-3-Gx-T7 4
  • EC 4
  • Beta3Gal-T7 4
  • Beta3GalT7 4
  • BETA3GNT 3
  • B3Gal-T7 4
  • 3-Gn-T1 3
  • 3-Gn-T2 3
  • B3GN-T2 3
  • B3GNT-2 3
  • B3GALT7 4
  • Beta-1 3
  • BGnT-1 4
  • B3GNT 3
  • BGNT2 3

External Ids for B3GNT2 Gene

Previous HGNC Symbols for B3GNT2 Gene

  • B3GNT1

Previous GeneCards Identifiers for B3GNT2 Gene

  • GC02P062276
  • GC02P062423

Summaries for B3GNT2 Gene

Entrez Gene Summary for B3GNT2 Gene

  • This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2016]

GeneCards Summary for B3GNT2 Gene

B3GNT2 (UDP-GlcNAc:BetaGal Beta-1,3-N-Acetylglucosaminyltransferase 2) is a Protein Coding gene. Diseases associated with B3GNT2 include Muscular Dystrophy-Dystroglycanopathy , Type A, 13 and Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A 13. Among its related pathways are Glycosaminoglycan metabolism and Keratan sulfate/keratin metabolism. GO annotations related to this gene include galactosyltransferase activity and N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity. An important paralog of this gene is B3GNT5.

UniProtKB/Swiss-Prot for B3GNT2 Gene

  • Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors (PubMed:9892646). Probably constitutes the main polylactosamine synthase.

Gene Wiki entry for B3GNT2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GNT2 Gene

Genomics for B3GNT2 Gene

Regulatory Elements for B3GNT2 Gene

Enhancers for B3GNT2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around B3GNT2 on UCSC Golden Path with GeneCards custom track

Promoters for B3GNT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around B3GNT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for B3GNT2 Gene

62,196,113 bp from pter
62,224,731 bp from pter
28,619 bases
Plus strand

Genomic View for B3GNT2 Gene

Genes around B3GNT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GNT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GNT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GNT2 Gene

Proteins for B3GNT2 Gene

  • Protein details for B3GNT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 2
    Protein Accession:
    Secondary Accessions:
    • Q54AC1
    • Q9NQQ9
    • Q9NQR0
    • Q9NUT9

    Protein attributes for B3GNT2 Gene

    397 amino acids
    Molecular mass:
    46022 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with B3GNT8; this interaction greatly increases B3GNT2 catalytic activity, independently of B3GNT8 enzymatic activity.
    • Sequence=BAA92031.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for B3GNT2 Gene


neXtProt entry for B3GNT2 Gene

Proteomics data for B3GNT2 Gene at MOPED

Post-translational modifications for B3GNT2 Gene

  • Ubiquitination at Lys 50
  • Glycosylation at Asn 79, Asn 89, Asn 127, Asn 173, and Asn 219
  • Modification sites at PhosphoSitePlus

Other Protein References for B3GNT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for B3GNT2 ("Beta-1,3-N-Acetylglucosaminyltransferase 2/B3GNT2")

No data available for DME Specific Peptides for B3GNT2 Gene

Domains & Families for B3GNT2 Gene

Gene Families for B3GNT2 Gene

Protein Domains for B3GNT2 Gene

Suggested Antigen Peptide Sequences for B3GNT2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 31 family.
  • Belongs to the glycosyltransferase 31 family.
genes like me logo Genes that share domains with B3GNT2: view

Function for B3GNT2 Gene

Molecular function for B3GNT2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-N-acetyl-D-glucosamine + beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-R = UDP + N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-D-glucosaminyl-R.
UniProtKB/Swiss-Prot Function:
Beta-1,3-N-acetylglucosaminyltransferase involved in the synthesis of poly-N-acetyllactosamine. Catalyzes the initiation and elongation of poly-N-acetyllactosamine chains. Shows a marked preference for Gal(beta1-4)Glc(NAc)-based acceptors (PubMed:9892646). Probably constitutes the main polylactosamine synthase.

Enzyme Numbers (IUBMB) for B3GNT2 Gene

genes like me logo Genes that share phenotypes with B3GNT2: view

Animal Models for B3GNT2 Gene

MGI Knock Outs for B3GNT2:

Animal Model Products

  • Taconic Biosciences Mouse Models for B3GNT2

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for B3GNT2 Gene

Localization for B3GNT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GNT2 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

Subcellular locations from

Jensen Localization Image for B3GNT2 Gene COMPARTMENTS Subcellular localization image for B3GNT2 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
endoplasmic reticulum 1
lysosome 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for B3GNT2 Gene

Pathways & Interactions for B3GNT2 Gene

genes like me logo Genes that share pathways with B3GNT2: view

UniProtKB/Swiss-Prot Q9NY97-B3GN2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Gene Ontology (GO) - Biological Process for B3GNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006486 protein glycosylation IEA --
GO:0007608 sensory perception of smell IEA --
GO:0016266 O-glycan processing TAS --
GO:0042339 keratan sulfate metabolic process TAS --
genes like me logo Genes that share ontologies with B3GNT2: view

No data available for SIGNOR curated interactions for B3GNT2 Gene

Drugs & Compounds for B3GNT2 Gene

No Compound Related Data Available

Transcripts for B3GNT2 Gene

Unigene Clusters for B3GNT2 Gene

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for B3GNT2 Gene

No ASD Table

Relevant External Links for B3GNT2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for B3GNT2 Gene

mRNA expression in normal human tissues for B3GNT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for B3GNT2 Gene

This gene is overexpressed in Serum (47.4) and Plasma (15.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for B3GNT2 Gene

SOURCE GeneReport for Unigene cluster for B3GNT2 Gene Hs.173203

mRNA Expression by UniProt/SwissProt for B3GNT2 Gene

Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with B3GNT2: view

Protein tissue co-expression partners for B3GNT2 Gene

Primer Products

No data available for mRNA differential expression in normal tissues for B3GNT2 Gene

Orthologs for B3GNT2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for B3GNT2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia B3GNT2 35
  • 87.91 (n)
  • 88.66 (a)
-- 36
  • 85 (a)
B3GNT2 36
  • 89 (a)
(Canis familiaris)
Mammalia B3GNT2 35
  • 89.25 (n)
  • 91.94 (a)
B3GNT2 36
  • 92 (a)
(Mus musculus)
Mammalia B3gnt2 35
  • 84.97 (n)
  • 87.41 (a)
B3gnt2 16
B3gnt2 36
  • 87 (a)
(Pan troglodytes)
Mammalia B3GNT2 35
  • 99.66 (n)
  • 100 (a)
B3GNT2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia B3gnt2 35
  • 84.47 (n)
  • 87.91 (a)
(Monodelphis domestica)
Mammalia B3GNT2 36
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia B3GNT2 36
  • 80 (a)
(Gallus gallus)
Aves B3GNT2 35
  • 74.14 (n)
  • 74.56 (a)
B3GNT2 36
  • 75 (a)
(Anolis carolinensis)
Reptilia B3GNT2 36
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia b3gnt2 35
  • 67.34 (n)
  • 68.26 (a)
Str.7170 35
(Danio rerio)
Actinopterygii b3gnt2b 35
  • 60.82 (n)
  • 57.99 (a)
wufa55h04 35
B3GNT2 (2 of 4) 36
  • 40 (a)
B3GNT2 (3 of 4) 36
  • 35 (a)
b3gnt2a 36
  • 53 (a)
b3gnt2b 36
  • 57 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.163 36
  • 33 (a)
Species with no ortholog for B3GNT2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for B3GNT2 Gene

Gene Tree for B3GNT2 (if available)
Gene Tree for B3GNT2 (if available)

Paralogs for B3GNT2 Gene

(8) SIMAP similar genes for B3GNT2 Gene using alignment to 1 proteins: Pseudogenes for B3GNT2 Gene

genes like me logo Genes that share paralogs with B3GNT2: view

Variants for B3GNT2 Gene

Sequence variations from dbSNP and Humsavar for B3GNT2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1562745 -- 62,202,898(+) GGCAC(A/G)AGGCC intron-variant
rs1562746 -- 62,202,978(+) TGAGA(A/G)GAGGT intron-variant
rs1562747 -- 62,203,361(+) GCATA(C/T)GGGAT intron-variant
rs1008724 -- 62,202,976(+) TCTGA(C/G)AGGAG intron-variant
rs1008725 -- 62,203,073(+) CAGCA(A/G)TCAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for B3GNT2 Gene

Variant ID Type Subtype PubMed ID
nsv7313 OTHER Inversion 18451855
nsv874231 CNV Gain 21882294

Variation tolerance for B3GNT2 Gene

Residual Variation Intolerance Score: 36.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.83; 17.35% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for B3GNT2 Gene

Disorders for B3GNT2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for B3GNT2 Gene - From: OMIM, GeneTests, and DISEASES

Disorder Aliases PubMed IDs
muscular dystrophy-dystroglycanopathy , type a, 13
  • muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies a13
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type a 13
  • muscular dystrophy-dystroglycanopathy , type a, 13, walker-warburg syndrome or muscle-eye-braine disease, b3gnt1-related
kidney fibrosarcoma
  • fibrosarcoma of the kidney
walker-warburg syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
muscular dystrophy, congenital
  • congenital muscular dystrophy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for B3GNT2

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with B3GNT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for B3GNT2 Gene

Publications for B3GNT2 Gene

  1. A beta-1,3-N-acetylglucosaminyltransferase with poly-N- acetyllactosamine synthase activity is structurally related to beta- 1,3-galactosyltransferases. (PMID: 9892646) Zhou D. … Hennet T. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23 67
  2. Identification and characterization of three novel beta 1,3-N- acetylglucosaminyltransferases structurally related to the beta 1,3- galactosyltransferase family. (PMID: 11042166) Shiraishi N. … Sasaki K. (J. Biol. Chem. 2001) 2 3 23
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Differential expression patterns of N-acetylglucosaminyl transferases and polylactosamines in uterine lesions. (PMID: 24998922) Clark A.T. … BeltrALo E.I. (Eur J Histochem 2014) 3
  5. B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of alpha-dystroglycan. (PMID: 25279697) Praissman J.L. … Wells L. (Elife 2014) 3

Products for B3GNT2 Gene

Sources for B3GNT2 Gene