B3GNT6: Beta-1,3-N-Acetylglucosaminyltransferase 6
Key enzyme in mucin-type O-glycan biosynthesis and cancer-associated glycosylation
Gene Information Card
| Symbol | B3GNT6 |
|---|---|
| Full Name | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 192134 ncbi.nlm.nih.gov/gene/192134 |
| Ensembl ID | ENSG00000198467 |
| UniProt ID | Q6L9P8 |
| OMIM ID | 615321 |
| HGNC ID | 24172 |
| Aliases | C3GNT, Core3 synthase, beta3Gn-T6 |
Description
B3GNT6 encodes a beta-1,3-N-acetylglucosaminyltransferase that catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the core 1 O-glycan structure (Galβ1-3GalNAcα1-Ser/Thr) to form core 3 O-glycans (GlcNAcβ1-3GalNAcα1-Ser/Thr). This enzyme is essential for the biosynthesis of mucin-type O-glycans in the gastrointestinal tract and is frequently downregulated in gastric and colorectal cancers, contributing to altered cell adhesion and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric cancer | Loss of B3GNT6 expression reduces core 3 O-glycan synthesis, promoting tumor cell invasion and metastasis. | PMID: 15199144, 19244116 |
| Colorectal cancer | Epigenetic silencing of B3GNT6 leads to aberrant glycosylation and increased malignancy. | PMID: 19244116, 21573179 |
| Inflammatory bowel disease | Altered mucin glycosylation due to B3GNT6 dysregulation may affect mucosal barrier function. | PMID: 21573179 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | Medium |
| Stomach | 8.3 | Medium |
| Small intestine | 7.1 | Medium |
| Esophagus | 4.2 | Low |
| Pancreas | 2.8 | Low |
| Liver | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HT-29 (colon adenocarcinoma) | 15.2 | High expression |
| MKN45 (gastric carcinoma) | 9.8 | Medium expression |
| HCT116 (colorectal carcinoma) | 6.5 | Low expression |
| HeLa (cervical carcinoma) | 0.9 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.487C>T (p.Arg163Trp) | missense | <0.01% | May affect catalytic activity; functional impact unknown |
| c.832G>A (p.Gly278Ser) | missense | <0.01% | Located in conserved domain; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Frequent epigenetic silencing (promoter methylation) in gastric and colorectal cancers; rare missense variants may reduce enzyme activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mucin-type O-glycan biosynthesis (Reactome: R-HSA-913709)
• O-linked glycosylation of mucins (KEGG: hsa00512)
Protein Summary
B3GNT6 is a type II transmembrane glycosyltransferase localized to the Golgi apparatus. It synthesizes core 3 O-glycans by adding GlcNAc in β1-3 linkage to core 1 structures. Core 3 glycans are abundant in mucins of the gastrointestinal tract and are critical for maintaining mucosal barrier integrity. Loss of B3GNT6 expression is a hallmark of gastric and colorectal cancers, often due to promoter hypermethylation, and correlates with poor prognosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B3GNT6 Knockout HEK293 Cell Line | EDJ-KQ11790 | Human | 192134 | Details Get a Quote |
| B3GNT6 Knockout HeLa Cell Line | EDJ-KQ58959 | Human | 192134 | Details Get a Quote |
| B3GNT6 Knockout A-549 Cell Line | EDJ-KQ67446 | Human | 192134 | Details Get a Quote |
| B3GNT6 Knockout HCT 116 Cell Line | EDJ-KQ75841 | Human | 192134 | Details Get a Quote |
