B3GNT9: Beta-1,3-N-Acetylglucosaminyltransferase 9
A glycosyltransferase involved in protein glycosylation and potential cancer biology
Gene Information Card
| Symbol | B3GNT9 |
|---|---|
| Full Name | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 84752 ncbi.nlm.nih.gov/gene/84752 |
| Ensembl ID | ENSG00000140987 |
| UniProt ID | Q6UX72 |
| OMIM ID | 615596 |
| HGNC ID | 24187 |
| Aliases | B3GN-T9, beta3Gn-T9, B3GNT-9 |
Description
B3GNT9 encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. The enzyme transfers N-acetylglucosamine (GlcNAc) in a beta-1,3 linkage to galactose residues on glycoproteins and glycolipids, contributing to the elongation of poly-N-acetyllactosamine chains. This modification is important for cell adhesion, signaling, and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered glycosylation may promote tumor cell migration and invasion | Expression profiling studies (COSMIC, literature) |
| Gastric Cancer | Dysregulation of poly-N-acetyllactosamine synthesis affects cell surface signaling | Gene expression microarray data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 10.2 | Medium |
| Stomach | 8.5 | Medium |
| Small Intestine | 7.9 | Low |
| Pancreas | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| HCT116 | 15.3 | Colorectal carcinoma cell line |
| A549 | 7.2 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown; predicted benign (ClinVar) |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown; predicted possibly damaging (ClinVar) |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
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) | • transferase activity (GO:0016757) |
| • Golgi apparatus (GO:0005794) | • protein glycosylation (GO:0006486) |
| • O-glycan processing (GO:0016266) |
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
• Mucin type O-glycan biosynthesis (KEGG: hsa00512)
Protein Summary
B3GNT9 is a 415-amino acid type II transmembrane protein localized to the Golgi apparatus. It catalyzes the addition of N-acetylglucosamine in a beta-1,3 linkage to galactose, forming poly-N-acetyllactosamine extensions on N- and O-glycans. These structures modulate cell-cell interactions and receptor signaling, with implications in cancer metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B3GNT9 Knockout HEK293 Cell Line | EDJ-KQ9421 | Human | 84752 | Details Get a Quote |
| B3GNT9 Knockout A-549 Cell Line | EDJ-KQ37320 | Human | 84752 | Details Get a Quote |
| B3GNT9 Knockout HCT 116 Cell Line | EDJ-KQ37322 | Human | 84752 | Details Get a Quote |
| B3GNT9 Knockout HeLa Cell Line | EDJ-KQ37323 | Human | 84752 | Details Get a Quote |
