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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
  • 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
  • N-Acetyllactosaminide Beta-1,3-N-Acetylglucosaminyltransferase 2 3
  • 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-1,3-Gn-T1 4
  • Beta-1,3-Gn-T2 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 Kidney Fibrosarcoma and Walker-Warburg Syndrome. Among its related pathways are Keratan sulfate/keratin metabolism and Glycosaminoglycan metabolism. Gene Ontology (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 B3GNT9.

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

Additional gene information for B3GNT2 Gene

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

Genomics for B3GNT2 Gene

GeneHancer (GH) Regulatory Elements for B3GNT2 Gene

Promoters and enhancers for B3GNT2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I062194 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 554.7 +1.6 1574 7.1 HDGF FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 B3GNT2 XPO1 USP34 LOC105377633 GC02P062192 MIR5192 GC02M062151
GH02I062214 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 562.7 +22.1 22140 6.7 HDAC1 DNMT3B GATA2 EGR1 RCOR1 FOS CEBPB NR2F2 ZNF592 SMARCA4 B3GNT2 MIR5192 RN7SL51P GC02M062151
GH02I062302 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 29.6 +110.4 110375 8 HDGF PKNOX1 SMAD1 ARNT ARID4B NEUROD1 IRF4 ZNF766 FOS JUNB B3GNT2 GC02M062151 LOC105374761
GH02I062292 Enhancer 1.3 Ensembl ENCODE dbSUPER 25.9 +97.2 97167 2.4 HDGF PKNOX1 FOXA2 ARID4B IRF4 ZNF48 YY1 RUNX3 RXRA JUNB B3GNT2 LOC105374761 GC02M062151
GH02I062297 Enhancer 1.2 ENCODE dbSUPER 25.7 +100.7 100658 2 HDGF PKNOX1 SMAD1 ATF1 ARNT TCF12 ZNF121 POLR2B ZNF766 GATA2 B3GNT2 ENSG00000236498 TMEM17 LOC105374761 GC02M062151
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around B3GNT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the B3GNT2 gene promoter:

Genomic Locations for B3GNT2 Gene

Genomic Locations for B3GNT2 Gene
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

Post-translational modifications for B3GNT2 Gene

  • Ubiquitination at Lys50
  • Glycosylation at posLast=7979, posLast=8989, Asn127, posLast=173173, and Asn219

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")
  • Abcam antibodies for B3GNT2

Protein Products

  • Abcam proteins for B3GNT2

No data available for DME Specific Peptides for B3GNT2 Gene

Domains & Families for B3GNT2 Gene

Gene Families for B3GNT2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted membrane proteins

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-alpha-D-glucosamine + beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-R = UDP + N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-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

Phenotypes From GWAS Catalog for B3GNT2 Gene

Gene Ontology (GO) - Molecular Function for B3GNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008378 galactosyltransferase activity IEA --
GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity TAS --
GO:0008532 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity IEA,TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with B3GNT2: view
genes like me logo Genes that share phenotypes with B3GNT2: view

Animal Models for B3GNT2 Gene

MGI Knock Outs for B3GNT2:

Animal Model Products

Inhibitory RNA Products

No data available for 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for B3GNT2 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for B3GNT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA,HDA 23376485
genes like me logo Genes that share ontologies with B3GNT2: view

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:0006486 protein glycosylation IEA --
GO:0007411 axon guidance IEA --
GO:0007608 sensory perception of smell IEA --
GO:0016266 O-glycan processing TAS --
GO:0018146 keratan sulfate biosynthetic 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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for B3GNT2 Gene

Protein tissue co-expression partners for B3GNT2 Gene

NURSA nuclear receptor signaling pathways regulating expression of B3GNT2 Gene:


SOURCE GeneReport for Unigene cluster for B3GNT2 Gene:


mRNA Expression by UniProt/SwissProt for B3GNT2 Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for B3GNT2 Gene

  • Nervous system(4.1)
  • Bone marrow(4)
genes like me logo Genes that share expression patterns with B3GNT2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia B3GNT2 33 34
  • 99.66 (n)
(Canis familiaris)
Mammalia B3GNT2 33 34
  • 89.25 (n)
(Bos Taurus)
Mammalia B3GNT2 33 34
  • 87.91 (n)
-- 34
  • 85 (a)
(Mus musculus)
Mammalia B3gnt2 16 34 33
  • 84.97 (n)
(Rattus norvegicus)
Mammalia B3gnt2 33
  • 84.47 (n)
(Monodelphis domestica)
Mammalia B3GNT2 34
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia B3GNT2 34
  • 80 (a)
(Gallus gallus)
Aves B3GNT2 33 34
  • 74.14 (n)
(Anolis carolinensis)
Reptilia B3GNT2 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia b3gnt2 33
  • 67.34 (n)
Str.7170 33
(Danio rerio)
Actinopterygii b3gnt2b 33 34
  • 60.82 (n)
b3gnt2a 34
  • 53 (a)
B3GNT2 (2 of 4) 34
  • 40 (a)
B3GNT2 (3 of 4) 34
  • 35 (a)
wufa55h04 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.163 34
  • 33 (a)
Species where no ortholog for B3GNT2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000026275 -- 62,214,248(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000065201 -- 62,213,040(+) G/C genic_upstream_transcript_variant, intron_variant
rs1000087316 -- 62,220,543(+) A/G intron_variant
rs1000103210 -- 62,221,937(+) T/C intron_variant
rs1000148909 -- 62,209,182(+) A/G genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
nsv7313 OTHER inversion 18451855
nsv582123 CNV gain 21841781
nsv1143939 CNV deletion 24896259
nsv1000005 CNV gain 25217958

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)

Additional Variant Information for B3GNT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GNT2 Gene

Disorders for B3GNT2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for B3GNT2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
kidney fibrosarcoma
  • fibrosarcoma of the kidney
walker-warburg syndrome
  • cerebroocular dysplasia-muscular dystrophy syndrome
muscular dystrophy, congenital, lmna-related
  • mdcl
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for B3GNT2

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. 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 (The Journal of biological chemistry 2001) 2 3 4 22 58
  2. 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 (Proceedings of the National Academy of Sciences of the United States of America 1999) 2 3 4 22 58
  3. B4GAT1 is the priming enzyme for the LARGE-dependent functional glycosylation of α-dystroglycan. (PMID: 25279697) Praissman JL … Wells L (eLife 2014) 3 4 58
  4. Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. (PMID: 22446963) Okada Y … Yamamoto K (Nature genetics 2012) 3 44 58
  5. Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. (PMID: 20062062) Australo-Anglo-American Spondyloarthritis Consortium (TASC) … Brown MA (Nature genetics 2010) 3 44 58

Products for B3GNT2 Gene

Sources for B3GNT2 Gene

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