MGAT2 Gene - Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase
Key enzyme in N-glycan biosynthesis; mutations cause congenital disorder of glycosylation type IIa (CDG-IIa).
Gene Information Card
| Symbol | MGAT2 |
|---|---|
| Full Name | Mannosyl (Alpha-1,6-)-Glycoprotein Beta-1,2-N-Acetylglucosaminyltransferase |
| Gene Type | protein-coding |
| Chromosomal Location | 14q21.3 |
| NCBI Gene ID | 4247 ncbi.nlm.nih.gov/gene/4247 |
| Ensembl ID | ENSG00000168282 |
| UniProt ID | Q10469 |
| OMIM ID | 602616 |
| HGNC ID | 7045 |
| Aliases | CDG2A, GNT2, GNT-II, GnT-II |
Description
The MGAT2 gene encodes mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase II (GnT-II), a Golgi enzyme that catalyzes the transfer of N-acetylglucosamine from UDP-GlcNAc to the alpha-1,6-mannose arm of the N-glycan core. This step is essential for the conversion of hybrid to complex N-glycans. Mutations in MGAT2 cause congenital disorder of glycosylation type IIa (CDG-IIa), characterized by multisystemic abnormalities including developmental delay, dysmorphic features, and coagulation defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital disorder of glycosylation type IIa (CDG-IIa) | Loss-of-function mutations in MGAT2 impair N-glycan branching, leading to truncated glycans and defective glycoprotein function. | ClinVar, OMIM #212066 |
| Colorectal cancer | Altered MGAT2 expression may influence tumor cell adhesion and metastasis via aberrant N-glycosylation. | COSMIC, PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Small intestine | 10.2 | Medium |
| Colon | 8.9 | Medium |
| Pancreas | 7.3 | Low |
| Kidney | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.8 | Hepatocellular carcinoma cell line |
| Caco-2 | 11.3 | Colorectal adenocarcinoma cell line |
| HeLa | 5.2 | Cervical carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.793G>A (p.Gly265Arg) | Missense | Unknown | Loss of enzymatic activity; associated with CDG-IIa |
| c.1A>G (p.Met1Val) | Start loss | Unknown | Complete loss of protein; severe CDG-IIa phenotype |
| c.1066C>T (p.Arg356Trp) | Missense | Unknown | Reduced GnT-II activity; mild CDG-IIa |
Mutation functional classification
Loss of Function (LOF)
Most MGAT2 mutations (missense, nonsense, start loss) result in reduced or absent GnT-II activity, leading to CDG-IIa.
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)
| • beta-1 (GO:0003829) | • protein N-linked glycosylation (GO:0006487) |
| • Golgi apparatus (GO:0005794) | • glycosyltransferase activity (GO:0016757) |
Pathways
• KEGG: N-Glycan biosynthesis (hsa00510)
• Reactome: N-glycan antennae elongation (R-HSA-975578)
Protein Summary
GnT-II is a type II transmembrane glycosyltransferase localized to the Golgi apparatus. It has a short N-terminal cytoplasmic tail, a transmembrane domain, and a large C-terminal catalytic domain facing the Golgi lumen. The enzyme requires Mn2+ as a cofactor and specifically adds GlcNAc in beta-1,2 linkage to the Man-alpha-1,6 arm of the N-glycan core. This modification is critical for the formation of complex N-glycans, which modulate glycoprotein stability, trafficking, and cell-cell interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MGAT2 Knockout HEK293 Cell Line | EDJ-KQ2303 | Human | 4247 | Details Get a Quote |
| MGAT2 Knockout A-549 Cell Line | EDJ-KQ22677 | Human | 4247 | Details Get a Quote |
| MGAT2 Knockout HCT 116 Cell Line | EDJ-KQ22678 | Human | 4247 | Details Get a Quote |
| MGAT2 Knockout HeLa Cell Line | EDJ-KQ22679 | Human | 4247 | Details Get a Quote |
