GCNT2 Gene Summary [Human]
This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GCNT2 |
| Official Name | glucosaminyl (N-acetyl) transferase 2 (I blood group) [Source:HGNC Symbol;Acc:HGNC:4204] |
| Ensembl ID | ENSG00000111846 |
| Bio databases IDs | |
| Aliases | glucosaminyl (N-acetyl) transferase 2 (I blood group), Ii blood group, unassigned linkage group 3 |
| Synonyms | 5330430K10Rik, bA360O19.2, bA421M1.1, CCAT, CTRCT13, GCNT2C, GCNT5, Gcnt6, glucosaminyl (N-acetyl) transferase 2, glucosaminyl (N-acetyl) transferase 2 (I blood group), Glucosaminyltransferase, i-branching, IGNT, IGnTA, IGnTB, IGnTC, II, LOC102549059, LOC689092, NACGT1, NAGCT1, ULG3 |
| 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 GCNT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Core-2/I-Branching enzyme
- N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase
- acetylglucosaminyltransferase
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- neuroendocrine neoplasm
- keratocystic odontogenic tumor
- keratocystic odontogenic tumors
- cataract 13 with adult i phenotype
- adult i blood group phenotype without congenital cataract
- Alzheimer disease
- severe acute respiratory syndrome
- global developmental delay with intellectual disability
- congenital cataract
regulates
- blood urea nitrogen
- creatinine
- glycosaminoglycan
role in cell
- proliferation
- migration
- number
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
- Golgi Apparatus
- Golgi membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GCNT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organismal development
- positive regulation of cell proliferation
- protein glycosylation
- glycosaminoglycan biosynthetic process
- transforming growth factor beta receptor signaling pathway
- positive regulation of epithelial to mesenchymal transition
- posttranscriptional regulation of gene expression
- negative regulation of cell-substrate adhesion
- positive regulation of ERK1 and ERK2 cascade
- positive regulation of heterotypic cell-cell adhesion
- positive regulation of protein kinase B signaling cascade
- positive regulation of cell migration
Cellular Component
Where in the cell the gene product is active
- membrane
- Golgi membrane
- Golgi apparatus
Molecular Function
What the gene product does at the molecular level
- N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity
- acetylglucosaminyltransferase activity