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Aliases for B3GAT2 Gene

Aliases for B3GAT2 Gene

  • Beta-1,3-Glucuronyltransferase 2 2 3 4
  • Glucuronosyltransferase S 2 3 4
  • GLCATS 3 4 6
  • Galactosylgalactosylxylosylprotein 3-Beta-Glucuronosyltransferase 2 2 3
  • UDP-Glucuronosyltransferase S 3 4
  • EC 2.4.1.135 4 63
  • KIAA1963 4 6
  • GlcAT-D 3 4
  • Uridine Diphosphate Glucuronic Acid:Acceptor Glucuronosyltransferase 3
  • UDP-Glucuronyltransferase S 3
  • GlcAT-S 4

External Ids for B3GAT2 Gene

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. Among its related pathways are Disease and Metabolism. 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

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

Genomics for B3GAT2 Gene

Genomic Location for B3GAT2 Gene

Start:
70,856,679 bp from pter
End:
70,957,085 bp from pter
Size:
100,407 bases
Orientation:
Minus strand

Genomic View for B3GAT2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for B3GAT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for B3GAT2 Gene

Regulatory Elements for B3GAT2 Gene

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

Proteins for B3GAT2 Gene

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

    Protein Symbol:
    Q9NPZ5-B3GA2_HUMAN
    Recommended name:
    Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2
    Protein Accession:
    Q9NPZ5
    Secondary Accessions:
    • Q5JS09
    • Q8TF38
    • Q96NK4

    Protein attributes for B3GAT2 Gene

    Size:
    323 amino acids
    Molecular mass:
    36919 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • 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

Proteomics data for B3GAT2 Gene at MOPED

Selected DME Specific Peptides for B3GAT2 Gene

Post-translational modifications for B3GAT2 Gene

  • Glycosylation at Asn67 and Asn292

Other Protein References for B3GAT2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for B3GAT2 Gene

Gene Families for B3GAT2 Gene

HGNC:
  • B3GAT :Beta-1,3-glucuronyltransferases

Protein Domains for B3GAT2 Gene

Suggested Antigen Peptide Sequences for B3GAT2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NPZ5

UniProtKB/Swiss-Prot:

B3GA2_HUMAN
Family:
  • Belongs to the glycosyltransferase 43 family.:
    • Q9NPZ5
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-glucuronate + 3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein = UDP + 3-beta-D-glucuronosyl-3-beta-D-galactosyl-4-beta-D-galactosyl-O-beta-D-xylosylprotein
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

Gene Ontology (GO) - Molecular Function for B3GAT2 Gene

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

Phenotypes for B3GAT2 Gene

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

No data available for Animal Models , miRNA , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for B3GAT2 Gene COMPARTMENTS Subcellular localization image for B3GAT2 gene
Compartment Confidence
golgi apparatus 5
cytosol 2
endoplasmic reticulum 2
extracellular 2
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for B3GAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with B3GAT2: view

Pathways 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

Gene Ontology (GO) - Biological Process for B3GAT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0006486 protein glycosylation IEA --
GO:0030203 glycosaminoglycan metabolic process TAS --
GO:0030204 chondroitin sulfate metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with B3GAT2: view

Compounds for B3GAT2 Gene

(3) HMDB Compounds for B3GAT2 Gene

Compound Synonyms Cas Number PubMed IDs
Manganese
  • manganese
7439-96-5
Uridine 5'-diphosphate
  • 5'-UDP
58-98-0
Uridine diphosphate glucuronic acid
  • UDP glucuronate
2616-64-0

(2) Novoseek inferred chemical compound relationships for B3GAT2 Gene

Compound -log(P) Hits PubMed IDs
paragloboside 90.8 1
glycolipid 68.2 1
genes like me logo Genes that share compounds with B3GAT2: view

Transcripts for B3GAT2 Gene

mRNA/cDNA for B3GAT2 Gene

Unigene Clusters for B3GAT2 Gene

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

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
SP1:
SP2:

Relevant External Links for B3GAT2 Gene

GeneLoc Exon Structure for
B3GAT2
ECgene alternative splicing isoforms for
B3GAT2

Expression for B3GAT2 Gene

mRNA expression in normal human tissues 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 (8.7), Brain - Hypothalamus (6.5), Brain - Spinal cord (cervical c-1) (6.4), Brain - Amygdala (4.6), and Brain - Substantia nigra (4.0).

SOURCE GeneReport for Unigene cluster for B3GAT2 Gene Hs.713609

mRNA Expression by UniProt/SwissProt for B3GAT2 Gene

Q9NPZ5-B3GA2_HUMAN
Tissue specificity: Expressed in the trachea, retina, spinal cord, hippocampus and other brain regions, and, at lower levels, in testis and ovary
genes like me logo Genes that share expressions with B3GAT2: view

No data available for Protein expression 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
chimpanzee
(Pan troglodytes)
Mammalia B3GAT2 35
  • 99.48 (n)
  • 100 (a)
B3GAT2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia B3GAT2 35
  • 89.58 (n)
  • 93.5 (a)
B3GAT2 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B3GAT2 35
  • 93.29 (n)
  • 96.28 (a)
B3GAT2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B3gat2 35
  • 88.65 (n)
  • 90.71 (a)
B3gat2 16
B3gat2 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia B3GAT2 36
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia B3GAT2 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B3gat2 35
  • 88.54 (n)
  • 90.09 (a)
chicken
(Gallus gallus)
Aves B3GAT2 35
  • 86.56 (n)
  • 94.24 (a)
B3GAT2 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia B3GAT2 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia b3gat2 35
  • 71.84 (n)
  • 76.4 (a)
zebrafish
(Danio rerio)
Actinopterygii -- 35
b3gat2 35
  • 65.51 (n)
  • 70.25 (a)
b3gat2 36
  • 69 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta GlcAT-I 36
  • 43 (a)
ManyToMany
GlcAT-P 36
  • 23 (a)
ManyToMany
GlcAT-S 36
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea glct-1 36
  • 34 (a)
ManyToMany
glct-2 36
  • 29 (a)
ManyToMany
glct-3 36
  • 30 (a)
ManyToMany
glct-4 36
  • 30 (a)
ManyToMany
glct-5 36
  • 30 (a)
ManyToMany
glct-6 36
  • 30 (a)
ManyToMany
sqv-8 36
  • 33 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons IRX9-L 35
  • 45.68 (n)
  • 37.04 (a)
rice
(Oryza sativa)
Liliopsida Os10g0205300 35
  • 49.77 (n)
  • 38.14 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7080 36
  • 37 (a)
ManyToMany
CSA.7081 36
  • 34 (a)
ManyToMany
CSA.7425 36
  • 38 (a)
ManyToMany
Species with no ortholog for B3GAT2:
  • 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

ENSEMBL:
Gene Tree for B3GAT2 (if available)
TreeFam:
Gene Tree for B3GAT2 (if available)

Paralogs for B3GAT2 Gene

Paralogs for B3GAT2 Gene

Selected 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 Sequence Context AA Info Type MAF
rs473861 -- 70,903,948(-) gtgaa(A/G)ctgtt intron-variant
rs483894 -- 70,869,319(+) tgatg(A/G)catta intron-variant
rs490887 -- 70,891,220(-) AGCCA(C/T)ATAGC intron-variant
rs494314 -- 70,897,470(-) CATGA(A/G)CCACC intron-variant
rs495433 -- 70,897,284(-) tttgt(A/G)tgcag intron-variant

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

Variant ID Type Subtype PubMed ID
nsv482946 CNV Gain 15286789
esv2732255 CNV Deletion 23290073
nsv525542 CNV Gain 19592680
nsv823726 CNV Loss 20364138
esv2676925 CNV Deletion 23128226
nsv886148 CNV Loss 21882294
esv275097 CNV Loss 21479260

Relevant External Links for B3GAT2 Gene

HapMap Linkage Disequilibrium report
B3GAT2

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

Disorders for B3GAT2 Gene

(1) University of Copenhagen DISEASES for B3GAT2 Gene

Relevant External Links for B3GAT2

Genetic Association Database (GAD)
B3GAT2
Human Genome Epidemiology (HuGE) Navigator
B3GAT2
genes like me logo Genes that share disorders with B3GAT2: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. Different acceptor specificities of two glucuronyltransferases involved in the biosynthesis of HNK-1 carbohydrate. (PMID: 15470230) Kakuda S. … Kawasaki T. (Glycobiology 2005) 3 23
  3. Purification and characterization of two recombinant human glucuronyltransferases involved in the biosynthesis of HNK-1 carbohydrate in Escherichia coli. (PMID: 15039073) Kakuda S. … Kawasaki T. (Protein Expr. Purif. 2004) 3 23
  4. Cloning, characterization, and chromosome mapping of the human GlcAT- S gene. (PMID: 12522689) Marcos I. … Antinolo G. (J. Hum. Genet. 2002) 3 4
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4

Products for B3GAT2 Gene

Sources for B3GAT2 Gene

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