Human Gene B3GAT2 (ENST00000230053.11_8) from GENCODE V47lift37
  Description: beta-1,3-glucuronyltransferase 2 (from RefSeq NM_080742.3)
Gencode Transcript: ENST00000230053.11_8
Gencode Gene: ENSG00000112309.11_10
Transcript (Including UTRs)
   Position: hg19 chr6:71,566,382-71,666,763 Size: 100,382 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr6:71,571,366-71,666,132 Size: 94,767 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:71,566,382-71,666,763)mRNA (may differ from genome)Protein (323 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: B3GA2_HUMAN
DESCRIPTION: RecName: Full=Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2; EC=2.4.1.135; AltName: Full=Beta-1,3-glucuronyltransferase 2; AltName: Full=GlcAT-D; AltName: Full=UDP-glucuronosyltransferase S; Short=GlcAT-S; Short=Glucuronosyltransferase S;
FUNCTION: Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins (By similarity).
CATALYTIC ACTIVITY: 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.
COFACTOR: Manganese.
PATHWAY: Protein modification; protein glycosylation.
SUBUNIT: Homodimer (Potential).
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein.
TISSUE SPECIFICITY: Expressed in the trachea, retina, spinal cord, hippocampus and other brain regions, and, at lower levels, in testis and ovary.
SIMILARITY: Belongs to the glycosyltransferase 43 family.
SEQUENCE CAUTION: Sequence=BAB70889.1; Type=Erroneous initiation; Sequence=BAB85549.1; Type=Erroneous initiation;
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: B3GAT2
Diseases sorted by gene-association score: colonic benign neoplasm (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.52 RPKM in Brain - Hypothalamus
Total median expression: 10.72 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -296.60631-0.470 Picture PostScript Text
3' UTR -1193.704984-0.240 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005027 - Glyco_trans_43

Pfam Domains:
PF03360 - Glycosyltransferase family 43

SCOP Domains:
53448 - Nucleotide-diphospho-sugar transferases

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2D0J - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9NPZ5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0015018 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity
GO:0016740 transferase activity
GO:0046872 metal ion binding

Biological Process:
GO:0005975 carbohydrate metabolic process
GO:0006486 protein glycosylation
GO:0030203 glycosaminoglycan metabolic process
GO:0030204 chondroitin sulfate metabolic process
GO:0050650 chondroitin sulfate proteoglycan biosynthetic process

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  CU688387 - Synthetic construct Homo sapiens gateway clone IMAGE:100019407 3' read SMAP1 mRNA.
AB075843 - Homo sapiens mRNA for KIAA1963 protein.
AK055248 - Homo sapiens cDNA FLJ30686 fis, clone FCBBF2000362, highly similar to UDP-glucuronyltransferase-S.
DQ587860 - Homo sapiens piRNA piR-54972, complete sequence.
AK290018 - Homo sapiens cDNA FLJ77912 complete cds.
DQ599671 - Homo sapiens piRNA piR-37737, complete sequence.
AY070019 - Homo sapiens UDP-glucuronyltransferase-S (GLCATS) mRNA, complete cds.
BC101163 - Homo sapiens beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S), mRNA (cDNA clone IMAGE:40015907).
BC101165 - Homo sapiens beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S), mRNA (cDNA clone IMAGE:40015910).
BC113995 - Homo sapiens beta-1,3-glucuronyltransferase 2 (glucuronosyltransferase S), mRNA (cDNA clone MGC:138535 IMAGE:40004155), complete cds.
AB384337 - Synthetic construct DNA, clone: pF1KSDA1963, Homo sapiens B3GAT2 gene for galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2, complete cds, without stop codon, in Flexi system.
KJ903789 - Synthetic construct Homo sapiens clone ccsbBroadEn_13183 B3GAT2 gene, encodes complete protein.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-6557 - glycoaminoglycan-protein linkage region biosynthesis
PWY-6564 - heparan sulfate biosynthesis
PWY-6569 - chondroitin sulfate biosynthesis
PWY-6571 - dermatan sulfate biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q9NPZ5 (Reactome details) participates in the following event(s):

R-HSA-1889955 B3GATs transfer GlcA to tetrasaccharide linker
R-HSA-1971475 A tetrasaccharide linker sequence is required for GAG synthesis
R-HSA-1638091 Heparan sulfate/heparin (HS-GAG) metabolism
R-HSA-1793185 Chondroitin sulfate/dermatan sulfate metabolism
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B3GA2_HUMAN, ENST00000230053.1, ENST00000230053.10, ENST00000230053.2, ENST00000230053.3, ENST00000230053.4, ENST00000230053.5, ENST00000230053.6, ENST00000230053.7, ENST00000230053.8, ENST00000230053.9, GLCATS, KIAA1963, NM_080742, Q5JS09, Q8TF38, Q96NK4, Q9NPZ5, uc317drz.1, uc317drz.2
UCSC ID: ENST00000230053.11_8
RefSeq Accession: NM_080742.3
Protein: Q9NPZ5 (aka B3GA2_HUMAN or B3G2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.