MGAT2 Gene Summary [Human]
The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MGAT2 |
| Official Name | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase [Source:HGNC Symbol;Acc:HGNC:7045] |
| Ensembl ID | ENSG00000168282 |
| Bio databases IDs | |
| Aliases | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
| Synonyms | AA407964, alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase, CDG2A, CDGS2, GLCNACTII, GNT2, GNT-II, mannoside acetylglucosaminyltransferase 2, α-1,6-mannosyl-glycoprotein 2-β-N-acetylglucosaminyltransferase |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MGAT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- N-acetylglucosaminyltransferase II (MGAT2)
- protein homodimerization
- enzyme
- carbohydrate binding
- manganese ion binding
- alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- adenoma formation
- proteinuria
- congenital disorders of glycosylation type 2a
- kyphoscoliosis
- rectal prolapse
- hematuria
- hypoglycemia
- tremor
- paralysis
- glomerulonephritis
regulates
- asparagine
- triacylglycerol
- diacylglycerol
role in cell
- quantity
- differentiation
- number
- storage in
- dipeptide repeat protein sensitivity
- endoplasmic reticulum stress response
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- ribosome
- Golgi Apparatus
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MGAT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- viral protein processing
- protein N-linked glycosylation
- protein N-linked glycosylation via asparagine
- oligosaccharide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- membrane
- Golgi membrane
- Golgi apparatus
- Golgi stack
Molecular Function
What the gene product does at the molecular level
- protein homodimerization activity
- alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity
- manganese ion binding