B3GNT2: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
Key enzyme in poly-N-acetyllactosamine chain elongation and glycosylation pathways
Gene Information Card
| Symbol | B3GNT2 |
|---|---|
| Full Name | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p15 |
| NCBI Gene ID | 10678 ncbi.nlm.nih.gov/gene/10678 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | Q9NY97 |
| OMIM ID | 605581 |
| HGNC ID | 14297 |
| Aliases | B3GNT-2, B3GNT2, B3GN-T2, B3GNT2, beta3Gn-T2 |
Description
B3GNT2 encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme catalyzes the transfer of N-acetylglucosamine (GlcNAc) to galactose (Gal) residues via a beta-1,3 linkage, playing a critical role in the elongation of poly-N-acetyllactosamine chains on N- and O-glycans. These structures are important for cell-cell adhesion, receptor function, and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered glycosylation of cell surface proteins may promote metastasis | PMID: 23431129 |
| Gastric cancer | Upregulation of B3GNT2 correlates with poor prognosis | PMID: 25944712 |
| Breast cancer | Increased expression linked to enhanced cell migration | PMID: 27562872 |
| Lung cancer | Aberrant poly-N-acetyllactosamine synthesis affects tumor microenvironment | PMID: 28611238 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 15.2 | Medium |
| Stomach | 12.8 | Medium |
| Lung | 10.5 | Medium |
| Breast | 8.3 | Low |
| Liver | 6.1 | Low |
| Brain | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.7 | Cervical cancer cell line |
| A549 | 14.3 | Lung cancer cell line |
| MCF7 | 11.2 | Breast cancer cell line |
| HCT116 | 22.1 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104G>A (p.Arg35His) | Missense | 0.001% (gnomAD) | Unknown functional effect |
| c.487C>T (p.Arg163Trp) | Missense | 0.0005% (gnomAD) | Potential loss of enzyme activity |
| c.832G>A (p.Gly278Arg) | Missense | 0.0003% (gnomAD) | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • galactosyltransferase activity (GO:0008378) | • glycosyltransferase activity (GO:0016757) |
| • protein glycosylation (GO:0006486) | • Golgi apparatus (GO:0005794) |
| • membrane (GO:0016020) |
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
• N-Glycan biosynthesis (KEGG: hsa00510)
• Mucin type O-glycan biosynthesis (KEGG: hsa00512)
Protein Summary
B3GNT2 is a type II transmembrane protein localized to the Golgi apparatus. It contains a short N-terminal cytoplasmic domain, a transmembrane domain, and a large C-terminal catalytic domain facing the Golgi lumen. The enzyme requires Mn2+ as a cofactor and specifically adds GlcNAc in beta-1,3 linkage to terminal Gal residues on glycoconjugates. Its activity is essential for the synthesis of poly-N-acetyllactosamine extensions, which serve as ligands for galectins and selectins, influencing cell adhesion and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B3GNT2 Knockout HEK293 Cell Line | EDJ-KQ17857 | Human | 10678 | Details Get a Quote |
| B3GNT2 Knockout A-549 Cell Line | EDJ-KQ24224 | Human | 10678 | Details Get a Quote |
| B3GNT2 Knockout HCT 116 Cell Line | EDJ-KQ24225 | Human | 10678 | Details Get a Quote |
| B3GNT2 Knockout HeLa Cell Line | EDJ-KQ24226 | Human | 10678 | Details Get a Quote |
| B3GNT2 Knockout A-375 Cell Line | EDJ-KZ114 | Human | 10678 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
