MGAT4D
Mannosyl (Alpha-1,3-)-Glycoprotein Beta-1,4-N-Acetylglucosaminyltransferase, Isozyme D
Gene Information Card
| Symbol | MGAT4D |
|---|---|
| Full Name | Mannosyl (Alpha-1,3-)-Glycoprotein Beta-1,4-N-Acetylglucosaminyltransferase, Isozyme D |
| Gene Type | protein-coding |
| Chromosomal Location | 4q32.1 |
| NCBI Gene ID | 152992 ncbi.nlm.nih.gov/gene/152992 |
| Ensembl ID | ENSG00000164124 |
| UniProt ID | Q8N2A0 |
| OMIM ID | 610591 |
| HGNC ID | 23387 |
| Aliases | GNT-IVD, GnT-IVD, MGAT4D |
Description
MGAT4D encodes a member of the N-acetylglucosaminyltransferase IV (GnT-IV) family, which catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the core mannose residues of N-glycans, forming tri- and tetra-antennary structures. This enzyme is involved in the biosynthesis of complex N-glycans and plays a role in cell adhesion, signaling, and cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Altered MGAT4D expression may affect N-glycan branching, influencing cell migration and metastasis. | PubMed: 25691885 |
| Hepatocellular Carcinoma | Upregulation of MGAT4D correlates with poor prognosis and increased metastatic potential. | PubMed: 27864362 |
| Pancreatic Cancer | MGAT4D overexpression is associated with aberrant glycosylation and tumor aggressiveness. | PubMed: 29367608 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 8.5 | Medium |
| Colon | 6.2 | Medium |
| Pancreas | 4.8 | Low |
| Kidney | 3.1 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.3 | Hepatocellular carcinoma cell line |
| HT-29 | 9.7 | Colorectal adenocarcinoma cell line |
| PANC-1 | 7.4 | Pancreatic carcinoma cell line |
| HEK293 | 2.1 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Gly349Arg) | Missense | <0.1% | Unknown functional impact |
| c.1567C>T (p.Arg523Trp) | Missense | <0.1% | Predicted damaging (SIFT, PolyPhen) |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in MGAT4D.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • acetylglucosaminyltransferase activity (GO:0008376) | • protein N-linked glycosylation (GO:0006487) |
| • integral component of membrane (GO:0016021) | • Golgi apparatus (GO:0005794) |
Pathways
• REACT:21377 - N-glycan antennae elongation
• KEGG:00510 - N-Glycan biosynthesis
Protein Summary
MGAT4D is a type II transmembrane protein localized to the Golgi apparatus. It catalyzes the addition of GlcNAc in β1-4 linkage to the α1-3 mannose arm of the N-glycan core, generating tri- and tetra-antennary structures. This modification influences glycoprotein stability, trafficking, and receptor interactions. MGAT4D expression is tissue-specific, with highest levels in liver and colon, and is dysregulated in several cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MGAT4D Knockout HEK293 Cell Line | EDJ-KQ11418 | Human | 152586 | Details Get a Quote |
| MGAT4D Knockout HeLa Cell Line | EDJ-KQ58711 | Human | 152586 | Details Get a Quote |
| MGAT4D Knockout A-549 Cell Line | EDJ-KQ67194 | Human | 152586 | Details Get a Quote |
| MGAT4D Knockout HCT 116 Cell Line | EDJ-KQ75598 | Human | 152586 | Details Get a Quote |
