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Aliases for B3GAT2 Gene

Aliases for B3GAT2 Gene

  • Beta-1,3-Glucuronyltransferase 2 2 3 4 5
  • Glucuronosyltransferase S 2 3 4
  • Galactosylgalactosylxylosylprotein 3-Beta-Glucuronosyltransferase 2 2 3
  • UDP-Glucuronosyltransferase S 3 4
  • EC 4 56
  • GlcAT-D 3 4
  • GLCATS 3 4
  • Uridine Diphosphate Glucuronic Acid:Acceptor Glucuronosyltransferase 3
  • UDP-Glucuronyltransferase S 3
  • KIAA1963 4
  • GlcAT-S 4

External Ids for B3GAT2 Gene

Previous GeneCards Identifiers for B3GAT2 Gene

  • GC00U990665
  • GC06M071533
  • GC06M071562
  • GC06M071566
  • GC06M071623
  • GC06M068769

Summaries for B3GAT2 Gene

Entrez Gene Summary for B3GAT2 Gene

  • The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008]

GeneCards Summary for B3GAT2 Gene

B3GAT2 (Beta-1,3-Glucuronyltransferase 2) is a Protein Coding gene. Diseases associated with B3GAT2 include Colonic Benign Neoplasm. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity. An important paralog of this gene is B3GAT1.

UniProtKB/Swiss-Prot for B3GAT2 Gene

  • Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins.

Gene Wiki entry for B3GAT2 Gene

Additional gene information for B3GAT2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B3GAT2 Gene

Genomics for B3GAT2 Gene

GeneHancer (GH) Regulatory Elements for B3GAT2 Gene

Promoters and enhancers for B3GAT2 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
GH06I070955 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 550.8 +0.8 770 2.1 ARID4B SIN3A FEZF1 ZNF2 ZNF48 ZNF121 GLIS2 ZNF143 MXD4 MIER2 B3GAT2 GC06M070896
GH06I070666 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 6.7 +288.9 288922 3 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF213 ZNF207 ZNF143 SMAP1 SDHAF4 B3GAT2 GC06M070679
GH06I070884 Enhancer 0.7 ENCODE 10.3 +72.6 72646 0.2 ELF3 CTCF ZNF2 KLF5 ZNF48 RAD21 SMC3 ZNF143 HOMEZ MIXL1 B3GAT2 LOC105377850 GC06M070896
GH06I070980 Enhancer 0.3 ENCODE 11.7 -23.5 -23473 0.9 RFX1 B3GAT2 BECN1P2
GH06I071106 Enhancer 1.2 FANTOM5 Ensembl ENCODE 2 -150.8 -150825 2.1 ZBTB6 ZSCAN4 ZNF223 FEZF1 ZNF2 ZNF335 ZNF366 PRDM10 ZNF391 ZNF600 B3GAT2 ENSG00000221345 GC06M071127 BECN1P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around B3GAT2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the B3GAT2 gene promoter:

Genomic Locations for B3GAT2 Gene

Genomic Locations for B3GAT2 Gene
100,511 bases
Minus strand

Genomic View for B3GAT2 Gene

Genes around B3GAT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B3GAT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B3GAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GAT2 Gene

Proteins for B3GAT2 Gene

  • Protein details for B3GAT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2
    Protein Accession:
    Secondary Accessions:
    • Q5JS09
    • Q8TF38
    • Q96NK4

    Protein attributes for B3GAT2 Gene

    323 amino acids
    Molecular mass:
    36919 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.
    • Sequence=BAB70889.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB85549.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for B3GAT2 Gene

neXtProt entry for B3GAT2 Gene

Selected DME Specific Peptides for B3GAT2 Gene


Post-translational modifications for B3GAT2 Gene

  • Glycosylation at Asn67 and posLast=292292
  • Modification sites at PhosphoSitePlus

Other Protein References for B3GAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for B3GAT2 Gene

Gene Families for B3GAT2 Gene

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

Protein Domains for B3GAT2 Gene

Suggested Antigen Peptide Sequences for B3GAT2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the glycosyltransferase 43 family.
  • Belongs to the glycosyltransferase 43 family.
genes like me logo Genes that share domains with B3GAT2: view

Function for B3GAT2 Gene

Molecular function for B3GAT2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
UDP-alpha-D-glucuronate + [protein]-3-O-(beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl)-L-serine = UDP + [protein]-3-O-(beta-D-GlcA-(1->3)-beta-D-Gal-(1->3)-beta-D-Gal-(1->4)-beta-D-Xyl)-L-serine.
UniProtKB/Swiss-Prot Function:
Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins.

Enzyme Numbers (IUBMB) for B3GAT2 Gene

Phenotypes From GWAS Catalog for B3GAT2 Gene

Gene Ontology (GO) - Molecular Function for B3GAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity TAS,IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with B3GAT2: view
genes like me logo Genes that share phenotypes with B3GAT2: view

Animal Model Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for B3GAT2 Gene

Localization for B3GAT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for B3GAT2 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 B3GAT2 gene
Compartment Confidence
golgi apparatus 5
extracellular 2
endoplasmic reticulum 2
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for B3GAT2 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 --
genes like me logo Genes that share ontologies with B3GAT2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for B3GAT2 Gene

Pathways & Interactions for B3GAT2 Gene

genes like me logo Genes that share pathways with B3GAT2: view

UniProtKB/Swiss-Prot Q9NPZ5-B3GA2_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for B3GAT2 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)
Selected Interacting proteins: ENSP00000230053 Q9NPZ5-B3GA2_HUMAN for B3GAT2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for B3GAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IBA --
GO:0006486 protein glycosylation IEA --
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0030204 chondroitin sulfate metabolic process IBA --
GO:0050650 chondroitin sulfate proteoglycan biosynthetic process IBA --
genes like me logo Genes that share ontologies with B3GAT2: view

No data available for SIGNOR curated interactions for B3GAT2 Gene

Drugs & Compounds for B3GAT2 Gene

(3) Drugs for B3GAT2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 37
UDP-alpha-D-glucuronic acid Experimental Pharma 0
Uridine-5'-Diphosphate Experimental Pharma 0

(2) Additional Compounds for B3GAT2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with B3GAT2: view

Transcripts for B3GAT2 Gene

mRNA/cDNA for B3GAT2 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(49) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for B3GAT2 Gene

Beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for B3GAT2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b

Relevant External Links for B3GAT2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for B3GAT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for B3GAT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for B3GAT2 Gene

This gene is overexpressed in Brain - Hippocampus (x8.7), Brain - Hypothalamus (x6.5), Brain - Spinal cord (cervical c-1) (x6.4), Brain - Amygdala (x4.6), and Brain - Substantia nigra (x4.0).

NURSA nuclear receptor signaling pathways regulating expression of B3GAT2 Gene:


SOURCE GeneReport for Unigene cluster for B3GAT2 Gene:


mRNA Expression by UniProt/SwissProt for B3GAT2 Gene:

Tissue specificity: Expressed in the trachea, retina, spinal cord, hippocampus and other brain regions, and, at lower levels, in testis and ovary.

Evidence on tissue expression from TISSUES for B3GAT2 Gene

  • Nervous system(4.7)
  • Liver(2.8)
  • Intestine(2.3)
  • Kidney(2)
genes like me logo Genes that share expression patterns with B3GAT2: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for B3GAT2 Gene

Orthologs for B3GAT2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for B3GAT2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia B3GAT2 33 34
  • 99.48 (n)
(Canis familiaris)
Mammalia B3GAT2 33 34
  • 93.29 (n)
(Bos Taurus)
Mammalia B3GAT2 33 34
  • 89.58 (n)
(Mus musculus)
Mammalia B3gat2 33 16 34
  • 88.65 (n)
(Rattus norvegicus)
Mammalia B3gat2 33
  • 88.54 (n)
(Monodelphis domestica)
Mammalia B3GAT2 34
  • 80 (a)
(Ornithorhynchus anatinus)
Mammalia B3GAT2 34
  • 72 (a)
(Gallus gallus)
Aves B3GAT2 33 34
  • 86.56 (n)
(Anolis carolinensis)
Reptilia B3GAT2 34
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia b3gat2 33
  • 71.84 (n)
(Danio rerio)
Actinopterygii b3gat2 33 34
  • 65.51 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta GlcAT-I 34
  • 43 (a)
GlcAT-P 34
  • 23 (a)
GlcAT-S 34
  • 22 (a)
(Caenorhabditis elegans)
Secernentea glct-1 34
  • 34 (a)
sqv-8 34
  • 33 (a)
glct-3 34
  • 30 (a)
glct-4 34
  • 30 (a)
glct-5 34
  • 30 (a)
glct-6 34
  • 30 (a)
glct-2 34
  • 29 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons IRX9-L 33
  • 45.68 (n)
(Oryza sativa)
Liliopsida Os10g0205300 33
  • 49.77 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7425 34
  • 38 (a)
CSA.7080 34
  • 37 (a)
CSA.7081 34
  • 34 (a)
Species where no ortholog for B3GAT2 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)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for B3GAT2 Gene

Gene Tree for B3GAT2 (if available)
Gene Tree for B3GAT2 (if available)

Paralogs for B3GAT2 Gene

Paralogs for B3GAT2 Gene

(3) SIMAP similar genes for B3GAT2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with B3GAT2: view

Variants for B3GAT2 Gene

Sequence variations from dbSNP and Humsavar for B3GAT2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000091197 -- 70,939,799(-) A/T intron_variant
rs1000149473 -- 70,927,995(-) T/C intron_variant
rs1000220518 -- 70,889,163(-) T/C intron_variant
rs1000247176 -- 70,906,783(-) C/T intron_variant
rs1000252966 -- 70,945,427(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for B3GAT2 Gene

Variant ID Type Subtype PubMed ID
dgv1193e214 CNV gain 21293372
esv2676925 CNV deletion 23128226
esv2732255 CNV deletion 23290073
esv275097 CNV loss 21479260
esv3571196 CNV loss 25503493
esv3609447 CNV loss 21293372
esv3609448 CNV loss 21293372
esv3609449 CNV loss 21293372
esv3609450 CNV gain 21293372
esv3609451 CNV loss 21293372
nsv525542 CNV gain 19592680
nsv603639 CNV loss 21841781
nsv823726 CNV loss 20364138

Variation tolerance for B3GAT2 Gene

Residual Variation Intolerance Score: 22.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.13; 22.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B3GAT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B3GAT2 Gene

Disorders for B3GAT2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for B3GAT2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
colonic benign neoplasm
  • colon neoplasm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for B3GAT2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with B3GAT2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for B3GAT2 Gene

Publications for B3GAT2 Gene

  1. Crystal structure of GlcAT-S, a human glucuronyltransferase, involved in the biosynthesis of the HNK-1 carbohydrate epitope. (PMID: 16897771) Shiba T … Kato R (Proteins 2006) 3 4 22 58
  2. Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. (PMID: 21326311) Bhatnagar P … Keefer JR (Journal of human genetics 2011) 3 44 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. Different acceptor specificities of two glucuronyltransferases involved in the biosynthesis of HNK-1 carbohydrate. (PMID: 15470230) Kakuda S … Kawasaki T (Glycobiology 2005) 3 22 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for B3GAT2 Gene

Sources for B3GAT2 Gene

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