B3GALT2
Beta-1,3-Galactosyltransferase 2
Gene Information Card
| Symbol | B3GALT2 |
|---|---|
| Full Name | Beta-1,3-Galactosyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.3 |
| NCBI Gene ID | 8708 ncbi.nlm.nih.gov/gene/8708 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | O43825 |
| OMIM ID | 603018 |
| HGNC ID | 919 |
| Aliases | B3Gal-T2, beta3Gal-T2, GalT2 |
Description
B3GALT2 encodes beta-1,3-galactosyltransferase 2, a Golgi membrane-bound enzyme that transfers galactose to N-acetylglucosamine residues in glycoproteins and glycolipids, forming type 1 lactosamine structures. This enzyme is involved in the biosynthesis of Lewis antigens and other glycan structures critical for cell-cell interactions and signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered glycosylation of cell surface glycoproteins may promote tumor progression and metastasis | COSMIC mutation data; literature evidence from NCBI GeneRIF |
| Gastric cancer | Dysregulated B3GALT2 expression affects Lewis antigen synthesis, influencing Helicobacter pylori adhesion | PubMed indexed studies via NCBI |
| Congenital disorders of glycosylation (CDG) | Potential loss-of-function mutations impair glycan synthesis, though direct clinical association not yet established | OMIM and ClinVar variant reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 12.5 | Medium |
| Stomach | 9.8 | Medium |
| Small intestine | 8.3 | Medium |
| Kidney | 6.1 | Low |
| Liver | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical adenocarcinoma; moderate expression |
| HCT116 | 18.7 | Colorectal carcinoma; higher expression |
| HEK293 | 7.5 | Embryonic kidney; low expression |
| A549 | 5.3 | Lung carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Unknown; predicted possibly damaging by in silico tools |
| c.1022C>T (p.Thr341Met) | Missense | <0.01% | Unknown; predicted benign |
| c.1246_1248del (p.Lys416del) | In-frame deletion | <0.01% | Unknown; may affect enzyme activity |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for B3GALT2.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
| • galactosyltransferase activity (GO:0008378) | • Golgi apparatus (GO:0005794) |
| • integral component of membrane (GO:0016021) | • protein glycosylation (GO:0006486) |
| • glycolipid biosynthetic process (GO:0006689) |
Pathways
• Glycosphingolipid biosynthesis - lactoseries (KEGG: hsa00601)
• Metabolism of carbohydrates (Reactome: R-HSA-71387)
Protein Summary
Beta-1,3-galactosyltransferase 2 is a 416-amino acid type II transmembrane protein localized to the Golgi apparatus. It catalyzes the transfer of galactose from UDP-galactose to N-acetylglucosamine with beta-1,3 linkage, forming the type 1 lactosamine disaccharide (Galβ1-3GlcNAc). This activity is essential for the synthesis of Lewis a and Lewis b blood group antigens and other glycan epitopes involved in cell adhesion, immune recognition, and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B3GALT2 Knockout HEK293 Cell Line | EDJ-KQ6331 | Human | 8707 | Details Get a Quote |
| B3GALT2 Knockout HeLa Cell Line | EDJ-KQ54986 | Human | 8707 | Details Get a Quote |
| B3GALT2 Knockout A-549 Cell Line | EDJ-KQ63469 | Human | 8707 | Details Get a Quote |
| B3GALT2 Knockout HCT 116 Cell Line | EDJ-KQ71935 | Human | 8707 | Details Get a Quote |
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