B4GALNT3
Beta-1,4-N-acetylgalactosaminyltransferase 3
Gene Information Card
| Symbol | B4GALNT3 |
|---|---|
| Full Name | Beta-1,4-N-acetylgalactosaminyltransferase 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.33 |
| NCBI Gene ID | 283349 ncbi.nlm.nih.gov/gene/283349 |
| Ensembl ID | ENSG00000139531 |
| UniProt ID | Q6L9Z8 |
| OMIM ID | 612197 |
| HGNC ID | 24137 |
| Aliases | B4GALNT3, GalNAc-T3, beta4GalNAcT3 |
Description
The B4GALNT3 gene encodes beta-1,4-N-acetylgalactosaminyltransferase 3, a Golgi enzyme that transfers N-acetylgalactosamine (GalNAc) to glycoproteins and glycolipids, forming the GalNAcβ1-4GlcNAc structure. This modification is critical for the biosynthesis of complex N-glycans and O-glycans, influencing cell adhesion, signaling, and tumor progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered glycosylation by B4GALNT3 may affect cell surface glycans, promoting tumor growth and metastasis. | COSMIC; PMID: 23593026 |
| Pancreatic cancer | Overexpression of B4GALNT3 is associated with poor prognosis and may modulate cancer cell migration. | COSMIC; PMID: 25636840 |
| Gastric cancer | Differential expression of B4GALNT3 correlates with tumor stage and lymph node metastasis. | COSMIC; PMID: 27323850 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | Medium |
| Pancreas | 8.3 | Low |
| Stomach | 6.7 | Low |
| Small intestine | 5.9 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SW480 (colorectal) | 15.2 | High expression |
| PANC-1 (pancreatic) | 10.8 | Moderate expression |
| MKN45 (gastric) | 9.4 | Moderate expression |
| HepG2 (liver) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Cys) | Missense | <0.01% | Unknown functional effect |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Unknown functional effect |
| c.1573_1574insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1573_1574insA) are predicted to cause premature truncation and loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • acetylgalactosaminyltransferase activity (GO:0008376) | • Golgi apparatus (GO:0005794) |
| • protein glycosylation (GO:0006486) | • transferase activity (GO:0016757) |
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
• N-Glycan biosynthesis (KEGG: hsa00510)
Protein Summary
B4GALNT3 is a type II transmembrane glycosyltransferase localized to the Golgi apparatus. It catalyzes the transfer of GalNAc from UDP-GalNAc to acceptor substrates, generating the GalNAcβ1-4GlcNAc motif found on N- and O-glycans. This enzyme plays a role in the synthesis of Lewis antigens and other glycan structures involved in cell-cell recognition. Altered expression has been implicated in several cancers, particularly colorectal and pancreatic cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B4GALNT3 Knockout HEK293 Cell Line | EDJ-KQ12508 | Human | 283358 | Details Get a Quote |
| B4GALNT3 Knockout HCT 116 Cell Line | EDJ-KQ41488 | Human | 283358 | Details Get a Quote |
| B4GALNT3 Knockout HeLa Cell Line | EDJ-KQ59389 | Human | 283358 | Details Get a Quote |
| B4GALNT3 Knockout A-549 Cell Line | EDJ-KQ67855 | Human | 283358 | Details Get a Quote |
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