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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 2.4.1.135 4 61
  • 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 Defective B4GALT7 causes EDS, progeroid type and heparan sulfate biosynthesis. 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

Regulatory Elements for B3GAT2 Gene

Enhancers for B3GAT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around B3GAT2 on UCSC Golden Path with GeneCards custom track

Promoters for B3GAT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around B3GAT2 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for B3GAT2 Gene

Chromosome:
6
Start:
70,856,679 bp from pter
End:
70,957,189 bp from pter
Size:
100,511 bases
Orientation:
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:
    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

Selected DME Specific Peptides for B3GAT2 Gene

Post-translational modifications for B3GAT2 Gene

  • Glycosylation at Asn 67 and Asn 292
  • Modification sites at PhosphoSitePlus

Other Protein References for B3GAT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for B3GAT2 Gene

Gene Families for B3GAT2 Gene

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 :
  • Belongs to the glycosyltransferase 43 family.
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-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 TAS --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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

Gene Ontology (GO) - Cellular Components for B3GAT2 Gene

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

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

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 33
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 (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:

B3GAT2

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 expression patterns with B3GAT2: view

Primer Products

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

ENSEMBL:
Gene Tree for B3GAT2 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs964154 -- 70,906,269(+) CTATT(C/T)CAGCA intron-variant
rs6455390 -- 70,928,137(+) ccaac(A/G)agaac intron-variant
rs1304029 -- 70,913,550(+) GTTGC(A/G)CCATG intron-variant
rs1320315 -- 70,956,443(-) AGGCC(A/G)GGGAG utr-variant-5-prime
rs6900011 -- 70,957,847(+) AGAAT(C/G)GCCTT upstream-variant-2KB

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)

Relevant External Links for B3GAT2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
B3GAT2

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

Relevant External Links for B3GAT2

Genetic Association Database (GAD)
B3GAT2
Human Genome Epidemiology (HuGE) Navigator
B3GAT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B3GAT2
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 65
  2. Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. (PMID: 21326311) Bhatnagar P. … Keefer J.R. (J. Hum. Genet. 2011) 3 46 65
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 65
  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 65
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 65

Products for B3GAT2 Gene

Sources for B3GAT2 Gene

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