Human Gene B3GNT2 (ENST00000301998.5_4) from GENCODE V47lift37
  Description: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2, transcript variant 1 (from RefSeq NM_006577.6)
Gencode Transcript: ENST00000301998.5_4
Gencode Gene: ENSG00000170340.11_7
Transcript (Including UTRs)
   Position: hg19 chr2:62,423,250-62,451,866 Size: 28,617 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg19 chr2:62,449,356-62,450,549 Size: 1,194 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:62,423,250-62,451,866)mRNA (may differ from genome)Protein (397 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: B3GN2_HUMAN
DESCRIPTION: RecName: Full=UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2; Short=BGnT-2; Short=Beta-1,3-Gn-T2; Short=Beta-1,3-N-acetylglucosaminyltransferase 2; Short=Beta3Gn-T2; EC=2.4.1.-; AltName: Full=Beta-1,3-N-acetylglucosaminyltransferase 1; Short=BGnT-1; Short=Beta-1,3-Gn-T1; Short=Beta3Gn-T1; AltName: Full=Beta-1,3-galactosyltransferase 7; Short=Beta-1,3-GalTase 7; Short=Beta3Gal-T7; Short=Beta3GalT7; Short=b3Gal-T7; AltName: Full=Beta-3-Gx-T7; AltName: Full=UDP-Gal:beta-GlcNAc beta-1,3-galactosyltransferase 7; AltName: Full=UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase 7;
FUNCTION: Catalyzes the initiation and elongation of poly-N- acetyllactosamine chains.
COFACTOR: Manganese.
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein (Potential).
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Belongs to the glycosyltransferase 31 family.
CAUTION: Was indicated as B3Gal-T6 in submitted DNA entries.
SEQUENCE CAUTION: Sequence=BAA92031.1; Type=Erroneous initiation;
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=B3GNT1";
WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=UDP- GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_434";

-  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: B3GNT2
Diseases sorted by gene-association score: kidney fibrosarcoma (3), walker-warburg syndrome (3), muscular dystrophy, congenital (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 61.71 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 386.22 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -121.00250-0.484 Picture PostScript Text
3' UTR -304.001317-0.231 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
IPR002659 - Glyco_trans_31

Pfam Domains:
PF01762 - Galactosyltransferase

SCOP Domains:
53448 - Nucleotide-diphospho-sugar transferases

ModBase Predicted Comparative 3D Structure on Q9NY97
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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008378 galactosyltransferase activity
GO:0008499 UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity
GO:0008532 N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups

Biological Process:
GO:0006486 protein glycosylation
GO:0007411 axon guidance
GO:0007608 sensory perception of smell
GO:0016266 O-glycan processing
GO:0018146 keratan sulfate biosynthetic process
GO:0030311 poly-N-acetyllactosamine biosynthetic process
GO:1990830 cellular response to leukemia inhibitory factor

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
  AB049584 - Homo sapiens mRNA for beta-1,3-N-acetylglucosaminyltransferase bGnT-2, complete cds.
BC047933 - Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2, mRNA (cDNA clone MGC:49838 IMAGE:5767816), complete cds.
LP895390 - Sequence 254 from Patent EP3253886.
AF092051 - Homo sapiens beta-1,3-N-acetylglucosaminyltransferase mRNA, complete cds.
AF288208 - Homo sapiens galactosyltransferase beta3Gal-T6 mRNA, complete cds.
JD184993 - Sequence 166017 from Patent EP1572962.
JD422355 - Sequence 403379 from Patent EP1572962.
BC030579 - Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2, mRNA (cDNA clone MGC:26071 IMAGE:4828158), complete cds.
CU688914 - Synthetic construct Homo sapiens gateway clone IMAGE:100018212 5' read B3GNT2 mRNA.
AB528549 - Synthetic construct DNA, clone: pF1KB4538, Homo sapiens B3GNT2 gene for UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2, without stop codon, in Flexi system.
DQ894815 - Synthetic construct Homo sapiens clone IMAGE:100009275; FLH178729.01L; RZPDo839G06127D chromosome 21 open reading frame 66 (C21orf66) gene, encodes complete protein.
DQ891624 - Synthetic construct clone IMAGE:100004254; FLH178733.01X; RZPDo839G06128D chromosome 21 open reading frame 66 (C21orf66) gene, encodes complete protein.
HQ447202 - Synthetic construct Homo sapiens clone IMAGE:100070499; CCSB001538_01 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 (B3GNT2) gene, encodes complete protein.
KJ893110 - Synthetic construct Homo sapiens clone ccsbBroadEn_02504 B3GNT2 gene, encodes complete protein.
AJ006077 - Homo sapiens beta3gal-T5 gene.
AF288209 - Homo sapiens beta galactosyltransferase bGalT7 mRNA, complete cds.
AK002009 - Homo sapiens cDNA FLJ11147 fis, clone PLACE1006678, weakly similar to Homo sapiens mRNA for type II membrane protein, clone:HP10328.
JD296427 - Sequence 277451 from Patent EP1572962.
JD085669 - Sequence 66693 from Patent EP1572962.
JD244296 - Sequence 225320 from Patent EP1572962.
JD109688 - Sequence 90712 from Patent EP1572962.
JD315571 - Sequence 296595 from Patent EP1572962.
JD318702 - Sequence 299726 from Patent EP1572962.
JD229197 - Sequence 210221 from Patent EP1572962.
JD245401 - Sequence 226425 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-7434 - terminal O-glycans residues modification (via type 2 precursor disaccharide)
PWY-7835 - superpathway of glycosphingolipids biosynthesis
PWY-7837 - i antigen and I antigen biosynthesis
PWY-7841 - neolacto-series glycosphingolipids biosynthesis

Reactome (by CSHL, EBI, and GO)

Protein Q9NY97 (Reactome details) participates in the following event(s):

R-HSA-914010 Addition of GlcNAc to the Tn antigen forms a Core 3 glycoprotein
R-HSA-2025724 B3GNT1,2,3,4,7 add GlcNAc to form Keratan-PG
R-HSA-913709 O-linked glycosylation of mucins
R-HSA-2022854 Keratan sulfate biosynthesis
R-HSA-5173105 O-linked glycosylation
R-HSA-1638074 Keratan sulfate/keratin metabolism
R-HSA-597592 Post-translational protein modification
R-HSA-1630316 Glycosaminoglycan metabolism
R-HSA-392499 Metabolism of proteins
R-HSA-71387 Metabolism of carbohydrates
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: B3GALT7, B3GN2_HUMAN, B3GNT1, ENST00000301998.1, ENST00000301998.2, ENST00000301998.3, ENST00000301998.4, NM_006577, Q54AC1, Q9NQQ9, Q9NQR0, Q9NUT9, Q9NY97, uc317mxv.1, uc317mxv.2
UCSC ID: ENST00000301998.5_4
RefSeq Accession: NM_006577.6
Protein: Q9NY97 (aka B3GN2_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.