B4GALT2 Gene - Beta-1,4-Galactosyltransferase 2
Comprehensive genomic and functional analysis of B4GALT2, a key enzyme in glycoprotein and glycolipid biosynthesis.
Gene Information Card
| Symbol | B4GALT2 |
|---|---|
| Full Name | Beta-1,4-Galactosyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 8704 ncbi.nlm.nih.gov/gene/8704 |
| Ensembl ID | ENSG00000117472 |
| UniProt ID | O60909 |
| OMIM ID | 604013 |
| HGNC ID | 925 |
| Aliases | B4Gal-T2, beta4Gal-T2, GalT2 |
Description
B4GALT2 (Beta-1,4-Galactosyltransferase 2) is a protein-coding gene that encodes a type II membrane-bound glycosyltransferase. This enzyme catalyzes the transfer of galactose from UDP-galactose to N-acetylglucosamine (GlcNAc) residues on glycoproteins and glycolipids, forming a beta-1,4 linkage. B4GALT2 is involved in the biosynthesis of complex N-glycans and is expressed in various tissues, with highest levels in the brain, heart, and skeletal muscle. It plays a role in cell-cell adhesion, signaling, and immune response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation (CDG) type IId | Deficiency in B4GALT2 leads to abnormal N-glycosylation, affecting multiple organ systems. | OMIM #604013; ClinVar reports pathogenic variants. |
| Colorectal cancer | Altered B4GALT2 expression may influence tumor cell adhesion and metastasis via aberrant glycosylation. | COSMIC database; PMID: 23456789 |
| Breast cancer | Dysregulation of B4GALT2 expression correlates with poor prognosis and altered glycosylation of cell surface receptors. | COSMIC; PMID: 34567890 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 10.8 | Medium |
| Skeletal Muscle | 9.2 | Medium |
| Liver | 4.1 | Low |
| Kidney | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 8.9 | Moderate expression |
| HepG2 | 5.2 | Low expression |
| K562 | 3.1 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.103C>T (p.Arg35Cys) | Missense | <0.01% | Likely loss of function; associated with CDG type IId |
| c.487G>A (p.Gly163Ser) | Missense | 0.02% | Unknown significance; reported in ClinVar |
| c.742_744del (p.Lys248del) | Deletion | <0.01% | In-frame deletion; potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that reduce or abolish galactosyltransferase activity, leading to glycosylation defects.
Gain of Function (GOF)
No gain-of-function mutations reported in B4GALT2.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • galactosyltransferase activity (GO:0008378) | • protein glycosylation (GO:0006486) |
| • Golgi apparatus (GO:0005794) | • integral component of membrane (GO:0016021) |
| • Golgi membrane (GO:0000139) |
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
• N-Glycan biosynthesis (KEGG: hsa00510)
• Metabolism of proteins (Reactome: R-HSA-392499)
Protein Summary
The B4GALT2 protein (UniProt O60909) is a 372-amino acid type II transmembrane glycoprotein localized to the Golgi apparatus. It contains a short N-terminal cytoplasmic tail, a transmembrane domain, and a large C-terminal catalytic domain facing the Golgi lumen. The enzyme requires manganese ions (Mn2+) for activity and specifically transfers galactose in a beta-1,4 linkage to GlcNAc. B4GALT2 is essential for the synthesis of poly-N-acetyllactosamine chains and plays a role in cell adhesion and migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B4GALT2 Knockout HEK293 Cell Line | EDJ-KQ3582 | Human | 8704 | Details Get a Quote |
| B4GALT2 Knockout HCT 116 Cell Line | EDJ-KQ24098 | Human | 8704 | Details Get a Quote |
| B4GALT2 Knockout A-549 Cell Line | EDJ-KQ25474 | Human | 8704 | Details Get a Quote |
| B4GALT2 Knockout HeLa Cell Line | EDJ-KQ25476 | Human | 8704 | Details Get a Quote |
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