B3GAT2 Gene - Beta-1,3-Glucuronyltransferase 2
Key enzyme in glycosaminoglycan biosynthesis and neural development
Gene Information Card
| Symbol | B3GAT2 |
|---|---|
| Full Name | Beta-1,3-Glucuronyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q13 |
| NCBI Gene ID | 27087 ncbi.nlm.nih.gov/gene/27087 |
| Ensembl ID | ENSG00000112297 |
| UniProt ID | Q9NPZ5 |
| OMIM ID | 606978 |
| HGNC ID | 953 |
| Aliases | GlcAT-S, GlcAT-2, GlcUAT-2, B3GAT2 |
Description
B3GAT2 (Beta-1,3-Glucuronyltransferase 2) encodes a member of the glucuronyltransferase family. This enzyme catalyzes the transfer of glucuronic acid from UDP-glucuronic acid to the terminal galactose of the glycosaminoglycan-protein linkage region, a critical step in the biosynthesis of heparan sulfate and chondroitin sulfate. B3GAT2 is predominantly expressed in the brain and is involved in neural development and synaptic plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered expression may affect neurodevelopment and synaptic function; genetic association studies suggest linkage | PMID: 19012866 |
| Bipolar disorder | Potential involvement in glycosaminoglycan metabolism affecting neuronal signaling | PMID: 19012866 |
| Intellectual disability | Rare variants in B3GAT2 have been identified in patients with developmental delay | ClinVar SCV000803123 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebellum) | 12.5 | Medium |
| Brain (cortex) | 10.2 | Medium |
| Testis | 3.1 | Low |
| Heart | 1.8 | Low |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.4 | Neuronal model |
| U-87 MG (glioblastoma) | 6.7 | Glial model |
| HEK293 (embryonic kidney) | 2.1 | Low 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% | Likely pathogenic; associated with intellectual disability |
| c.124G>A (p.Gly42Ser) | Missense | <0.01% | Uncertain significance |
| c.1489_1490del (p.Leu497fs) | Frameshift | <0.01% | Loss of function; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of enzyme activity, impairing glycosaminoglycan synthesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported.
Dominant Negative (DN)
No dominant-negative mechanisms have been described.
View complete mutation data：
Gene Ontology (GO)
| • glucuronosyltransferase activity (GO:0015026) | • Golgi apparatus (GO:0005794) |
| • glycosaminoglycan metabolic process (GO:0030203) | • chondroitin sulfate biosynthetic process (GO:0030206) |
| • heparan sulfate proteoglycan biosynthetic process (GO:0015012) |
Pathways
• Glycosaminoglycan biosynthesis – heparan sulfate / heparin (KEGG: hsa00534)
• Glycosaminoglycan biosynthesis – chondroitin sulfate / dermatan sulfate (KEGG: hsa00532)
Protein Summary
The B3GAT2 protein (UniProt Q9NPZ5) is a 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. The enzyme transfers glucuronic acid to the tetrasaccharide linkage region of proteoglycans, essential for elongation of heparan sulfate and chondroitin sulfate chains. Its expression is highest in neural tissues, suggesting a specialized role in brain development and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| B3GAT2 Knockout HEK293 Cell Line | EDJ-KQ9356 | Human | 135152 | Details Get a Quote |
| B3GAT2 Knockout HeLa Cell Line | EDJ-KQ58348 | Human | 135152 | Details Get a Quote |
| B3GAT2 Knockout A-549 Cell Line | EDJ-KQ66837 | Human | 135152 | Details Get a Quote |
| B3GAT2 Knockout HCT 116 Cell Line | EDJ-KQ75240 | Human | 135152 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
