Human Gene B4GALNT2 (ENST00000393354.7) from GENCODE V44
Description: Homo sapiens beta-1,4-N-acetyl-galactosaminyltransferase 2 (B4GALNT2), transcript variant 2, mRNA. (from RefSeq NM_001159387) RefSeq Summary (NM_001159387): 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: ENST00000393354.7 Gencode Gene: ENSG00000167080.9 Transcript (Including UTRs) Position: hg38 chr17:49,132,769-49,176,840 Size: 44,072 Total Exon Count: 11 Strand: + Coding Region Position: hg38 chr17:49,132,793-49,169,728 Size: 36,936 Coding Exon Count: 11
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";
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.
Pfam Domains: PF00535 - Glycosyl transferase family 2
ModBase Predicted Comparative 3D Structure on Q8NHY0
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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.
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
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. S83275 - Homo sapiens beta 1,4 N-acetylgalactosaminyltransferase/betal,4 GalNAcT/Sda-GalNAcT mRNA, partial cds. JD562322 - Sequence 543346 from Patent EP1572962. JD553679 - Sequence 534703 from Patent EP1572962. AK027110 - Homo sapiens cDNA: FLJ23457 fis, clone HSI07266. DQ587875 - Homo sapiens piRNA piR-54987, complete sequence. DQ587876 - Homo sapiens piRNA piR-54988, complete sequence.
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
US Server
