ALG2 Gene Summary [Human]
This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | ALG2 |
| Official Name | ALG2 alpha-1,3/1,6-mannosyltransferase [Source:HGNC Symbol;Acc:HGNC:23159] |
| Ensembl ID | ENSG00000119523 |
| Bio databases IDs | |
| Aliases | ALG2 alpha-1,3/1,6-mannosyltransferase |
| Synonyms | 1110018A23Rik, 1300013N08RIK, ALG2 alpha-1,3/1,6-mannosyltransferase, ALG2, alpha-1,3/1,6-mannosyltransferase, ALG2 α-1,3/1,6-mannosyltransferase, ALG2, α-1,3/1,6-mannosyltransferase, ALPG2, CDG1I, CDGIi, CMS14, CMSTA3, hALPG2, MNCb-5081, NET38 |
| 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 ALG2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glycolipid 3-alpha-mannosyltransferase
- glycosyltransferase family 1 and related proteins with GTB topology
- alpha-1,3-mannosyltransferase
- alpha-1,6-mannosyltransferase
- Glycosyl transferase 4-like domain
- enzyme
- protein binding
- glycolipid mannosyltransferase
- Glycosyl transferases group 1
- Glycosyltransferase Family 4
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Alzheimer disease
- adenoma formation
- congenital disorder of glycosylation type 1i
- aldosterone producing adrenocortical adenoma
- congenital myasthenic syndrome type 14
- early onset hypertension
role in cell
- expression in
- differentiation
- survival
- maturation
- chondrogenesis in
- biosynthesis in
- endoplasmic reticulum-associated degradation in
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
- cellular membrane
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ALG2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- oligosaccharide-lipid intermediate biosynthetic process
- protein glycosylation
- protein N-linked glycosylation
- dolichol-linked oligosaccharide biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
Molecular Function
What the gene product does at the molecular level
- alpha-1,3-mannosyltransferase activity
- protein binding
- GDP-Man:Man1GlcNAc2-PP-Dol alpha-1,3-mannosyltransferase activity