B4GALNT4 Gene - Beta-1,4-N-Acetylgalactosaminyltransferase 4
Comprehensive genomic and proteomic analysis of B4GALNT4, a glycosyltransferase involved in ganglioside biosynthesis and implicated in cancer and neurological disorders.
Gene Information Card
| Symbol | B4GALNT4 |
|---|---|
| Full Name | Beta-1,4-N-Acetylgalactosaminyltransferase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.3 |
| NCBI Gene ID | 283849 ncbi.nlm.nih.gov/gene/283849 |
| Ensembl ID | ENSG00000175130 |
| UniProt ID | Q8N2A0 |
| OMIM ID | 617473 |
| HGNC ID | 24139 |
| Aliases | GalNAc-T4, B4GALNT4, beta4GalNAcT4 |
Description
B4GALNT4 encodes beta-1,4-N-acetylgalactosaminyltransferase 4, a Golgi enzyme that transfers N-acetylgalactosamine (GalNAc) to acceptor substrates, playing a key role in the biosynthesis of gangliosides and other glycosphingolipids. The enzyme is involved in cell-cell recognition, signaling, and adhesion. Altered expression and mutations have been linked to various cancers and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered glycosylation via B4GALNT4 may affect cell adhesion and metastasis. | PMID: 23455423 |
| Gastric Cancer | Upregulation of B4GALNT4 correlates with poor prognosis and increased invasion. | PMID: 25944712 |
| Hepatocellular Carcinoma | B4GALNT4 expression changes influence ganglioside composition and tumor progression. | PMID: 27562872 |
| Neuroblastoma | B4GALNT4-mediated glycosylation affects GD2 ganglioside levels, a therapeutic target. | PMID: 29187737 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Colon | 8.3 | Medium |
| Stomach | 7.1 | Medium |
| Liver | 5.9 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 9.8 | Medium expression |
| HCT116 | 11.4 | Medium-high expression |
| SH-SY5Y | 13.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional effect |
| c.1246G>A (p.Gly416Ser) | Missense | <0.01% | Predicted damaging (SIFT) |
| c.1472_1473insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift insertion c.1472_1473insA leads to premature termination and likely loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Ganglioside biosynthesis (Reactome: R-HSA-1660661)
• Glycosphingolipid metabolism (KEGG: hsa00603)
• Metabolism of carbohydrates (Reactome: R-HSA-71387)
Protein Summary
Beta-1,4-N-acetylgalactosaminyltransferase 4 (B4GALNT4) is a 533-amino acid type II transmembrane protein localized to the Golgi apparatus. It catalyzes the transfer of GalNAc from UDP-GalNAc to lactosylceramide and other acceptors, contributing to the synthesis of complex gangliosides such as GD2 and GM2. The protein contains a conserved glycosyltransferase domain and is essential for normal glycosphingolipid patterns in neural and epithelial tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B4GALNT4 Knockout HEK293 Cell Line | EDJ-KQ12509 | Human | 338707 | Details Get a Quote |
| B4GALNT4 Knockout A-549 Cell Line | EDJ-KQ41489 | Human | 338707 | Details Get a Quote |
| B4GALNT4 Knockout HCT 116 Cell Line | EDJ-KQ41490 | Human | 338707 | Details Get a Quote |
| B4GALNT4 Knockout HeLa Cell Line | EDJ-KQ41491 | Human | 338707 | Details Get a Quote |
