B4GALNT2 Gene: Beta-1,4-N-Acetylgalactosaminyltransferase 2
Comprehensive biomedical resource for B4GALNT2: genomic data, expression, mutations, and disease associations.
Gene Information Card
| Symbol | B4GALNT2 |
|---|---|
| Full Name | Beta-1,4-N-acetylgalactosaminyltransferase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.32 |
| NCBI Gene ID | 124872 ncbi.nlm.nih.gov/gene/124872 |
| Ensembl ID | ENSG00000167034 |
| UniProt ID | Q8NHY0 |
| OMIM ID | 610181 |
| HGNC ID | 24138 |
| Aliases | B4GALNT2, GalNAc-T2, beta4GalNAcT2 |
Description
B4GALNT2 encodes beta-1,4-N-acetylgalactosaminyltransferase 2, a Golgi enzyme that transfers N-acetylgalactosamine (GalNAc) to glycoproteins and glycolipids. It is involved in the synthesis of the Sd(a) blood group antigen and plays roles in cell adhesion, immune modulation, and cancer biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Sd(a) blood group antigen deficiency | Loss of B4GALNT2 activity prevents GalNAc addition to glycoconjugates, leading to absence of Sd(a) antigen on red blood cells. | ClinVar, OMIM |
| Colorectal cancer | Altered B4GALNT2 expression affects glycosylation of cell surface proteins, influencing tumor progression and metastasis. | COSMIC, PubMed |
| Renal cell carcinoma | Downregulation of B4GALNT2 correlates with poor prognosis and altered glycosylation patterns. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Colon | 8.3 | Medium |
| Stomach | 6.1 | Medium |
| Liver | 4.2 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 9.7 | Medium expression |
| HCT116 | 11.4 | High expression |
| A549 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Cys) | Missense | 0.0002 | Reduced enzyme activity; associated with Sd(a) antigen deficiency |
| c.1246G>A (p.Gly416Arg) | Missense | 0.0001 | Loss of function; reported in colorectal cancer |
| c.1472delC (p.Pro491LeufsTer5) | Frameshift | <0.0001 | Truncated protein; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish GalNAc transferase activity, leading to Sd(a) antigen deficiency and altered glycosylation.
Gain of Function (GOF)
No documented gain-of-function mutations in B4GALNT2.
Dominant Negative (DN)
No evidence of dominant-negative effects for B4GALNT2 mutations.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series (KEGG: hsa00601)
• Blood group antigen biosynthesis (Reactome: R-HSA-9033807)
Protein Summary
B4GALNT2 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 Sd(a) blood group epitope. The enzyme is critical for the glycosylation of cell surface molecules, affecting cell-cell interactions, immune recognition, and cancer progression. Structural studies reveal a conserved catalytic domain and a stem region that mediates Golgi retention.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B4GALNT2 Knockout HEK293 Cell Line | EDJ-KQ7913 | Human | 124872 | Details Get a Quote |
| B4GALNT2 Knockout A-549 Cell Line | EDJ-KQ34815 | Human | 124872 | Details Get a Quote |
| B4GALNT2 Knockout HeLa Cell Line | EDJ-KQ58143 | Human | 124872 | Details Get a Quote |
| B4GALNT2 Knockout HCT 116 Cell Line | EDJ-KQ75046 | Human | 124872 | Details Get a Quote |
