Human Gene B4GALNT2 (ENST00000300404.2) from GENCODE V44
  Description: Homo sapiens beta-1,4-N-acetyl-galactosaminyltransferase 2 (B4GALNT2), transcript variant 1, mRNA. (from RefSeq NM_153446)
RefSeq Summary (NM_153446): B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008].
Gencode Transcript: ENST00000300404.2
Gencode Gene: ENSG00000167080.9
Transcript (Including UTRs)
   Position: hg38 chr17:49,132,967-49,169,874 Size: 36,908 Total Exon Count: 11 Strand: +
Coding Region
   Position: hg38 chr17:49,133,026-49,169,728 Size: 36,703 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:49,132,967-49,169,874)mRNA (may differ from genome)Protein (566 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: B4GN2_HUMAN
DESCRIPTION: RecName: Full=Beta-1,4 N-acetylgalactosaminyltransferase 2; EC=2.4.1.-; AltName: Full=Sd(a) beta-1,4-GalNAc transferase; AltName: Full=UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase;
FUNCTION: Involved in the synthesis of the Sd(a) antigen (Sia- alpha2,3-[GalNAc-beta1,4]Gal-beta1,4-GlcNAc), a carbohydrate determinant expressed on erythrocytes, the colonic mucosa and other tissues. Transfers a beta-1,4-linked GalNAc to the galactose residue of an alpha-2,3-sialylated chain.
PATHWAY: Protein modification; protein glycosylation.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Single-pass type II membrane protein (Potential).
TISSUE SPECIFICITY: Widely expressed. Highly expressed in colon and to a lesser extent in kidney, stomach, ileum and rectum.
SIMILARITY: Belongs to the glycosyltransferase 2 family.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";
WEB RESOURCE: Name=Functional Glycomics Gateway - GTase; Note=Beta-1,4 N-acetylgalactosaminyltransferase 2; URL="http://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_482";

-  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: B4GALNT2
Diseases sorted by gene-association score: diffuse interstitial keratitis (7)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.06 RPKM in Colon - Transverse
Total median expression: 13.28 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 -20.8059-0.353 Picture PostScript Text
3' UTR -36.40146-0.249 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
IPR001173 - Glyco_trans_2
IPR011143 - GM2_synthase

Pfam Domains:
PF00535 - Glycosyl transferase family 2

ModBase Predicted Comparative 3D Structure on Q8NHY0
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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
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008376 acetylgalactosaminyltransferase activity
GO:0016740 transferase activity
GO:0016757 transferase activity, transferring glycosyl groups
GO:0016758 transferase activity, transferring hexosyl groups

Biological Process:
GO:0006047 UDP-N-acetylglucosamine metabolic process
GO:0006486 protein glycosylation
GO:0018279 protein N-linked glycosylation via asparagine
GO:0019276 UDP-N-acetylgalactosamine metabolic process
GO:0022408 negative regulation of cell-cell adhesion
GO:0030259 lipid glycosylation

Cellular Component:
GO:0000139 Golgi membrane
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030173 integral component of Golgi membrane


-  Descriptions from all associated GenBank mRNAs
  AK302876 - Homo sapiens cDNA FLJ51410 complete cds, highly similar to Beta-1,4 N-acetylgalactosaminyltransferase 2 (EC 2.4.1.-).
AJ517771 - Homo sapiens partial mRNA for sda beta-1,4-GalNAc transferase (GALGT2 gene), splice variant 2.
AF510036 - Homo sapiens beta-4-N-acetylgalactosaminyltransferase mRNA, complete cds.
AJ517770 - Homo sapiens partial mRNA for sda beta-1,4-GalNAc transferase (GALGT2 gene), splice variant 1.
BC113675 - Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2, mRNA (cDNA clone MGC:142235 IMAGE:8322727), complete cds.
BC113677 - Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2, mRNA (cDNA clone MGC:142237 IMAGE:8322729), complete cds.
HQ258321 - Synthetic construct Homo sapiens clone IMAGE:100072630 beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2) gene, encodes complete protein.
HQ258467 - Synthetic construct Homo sapiens clone IMAGE:100072896 beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2) gene, encodes complete protein.
KJ900093 - Synthetic construct Homo sapiens clone ccsbBroadEn_09487 B4GALNT2 gene, encodes complete protein.
KJ906413 - Synthetic construct Homo sapiens clone ccsbBroadEn_16083 B4GALNT2 gene, encodes complete protein.
JD349407 - Sequence 330431 from Patent EP1572962.
S83275 - Homo sapiens beta 1,4 N-acetylgalactosaminyltransferase/betal,4 GalNAcT/Sda-GalNAcT mRNA, partial cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8NHY0 (Reactome details) participates in the following event(s):

R-HSA-8855954 B4GALNT2 transfers GalNAc from UDP-GalNAc to Sial-Gal-GlcNAc-Gal to form the Sd(a) antigen on UMOD
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B4GN2_HUMAN, ENST00000300404.1, GALGT2, NM_153446, Q14CP1, Q86Y40, Q8NHY0, uc002ion.1, uc002ion.2, uc002ion.3
UCSC ID: ENST00000300404.2
RefSeq Accession: NM_153446
Protein: Q8NHY0 (aka B4GN2_HUMAN)
CCDS: CCDS11544.1

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