POMGNT2 Gene Summary [Human]
This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]
Details
| Type | Protein Coding |
| Official Symbol | POMGNT2 |
| Official Name | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) [Source:HGNC Symbol;Acc:HGNC:25902] |
| Ensembl ID | ENSG00000144647 |
| Bio databases IDs | |
| Aliases | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-), protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2 |
| Synonyms | AGO61, C3orf39, GTDC2, LOC102723588, MDDGA8, MDDGC8, protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2, protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-), protein O-linked mannose N-acetylglucosaminyltransferase 2 (β 1,4-), protein O-linked mannose β 1,4-N-acetylglucosaminyltransferase 2, RGD1304827 |
| 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 POMGNT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- FN3
- 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
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A8
- hereditary disorder
- limb-girdle muscular dystrophy-dystroglycanopathy type C8
- acute myeloid leukemia
- POMGNT2-related myopathy
regulates
- enzyme
role in cell
- migration
- abnormal morphology
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
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POMGNT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neuron migration
- protein O-linked glycosylation
- protein O-linked mannosylation
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- acetylglucosaminyltransferase activity