Pomt2 Gene Summary [Rat]
Predicted to enable mannosyltransferase activity. Involved in positive regulation of protein O-linked glycosylation. Predicted to be located in cytosol; nucleolus; and nucleoplasm. Human ortholog(s) of this gene implicated in lissencephaly and muscular dystrophy (multiple). Orthologous to human POMT2 (protein O-mannosyltransferase 2). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pomt2 |
| Official Name | protein-O-mannosyltransferase 2 [Source:RGD Symbol;Acc:1586427] |
| Ensembl ID | ENSRNOG00000012146 |
| Bio databases IDs | |
| Aliases | protein-O-mannosyltransferase 2 |
| Synonyms | LGMD2N, LGMDR14, LOC681879, MDDGA2, MDDGB2, MDDGC2, protein-O-mannosyltransferase 2 |
| Species | Rat, Rattus norvegicus |
| 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 rat Pomt2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- mannosyltransferase
- MIR domain
- enzyme
- C-terminal four TMM region of protein-O-mannosyltransferase
- beta-trefoil_MIR
- dolichyl-phosphate-mannose-protein mannosyltransferase
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 A2
- limb-girdle muscular dystrophy type 2N
- limb-girdle muscular dystrophy type 2
- muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B2
- hereditary disorder
- muscular dystrophy
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A
- type 2 lissencephaly
- POMT2-related myopathy
- dystroglycanopathy
regulates
- DAG1
- Dystroglycan
role in cell
- organization
- adhesion
- O-mannosylation in
- modification 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
- perinuclear region
- cellular membrane
- Endoplasmic Reticulum
- cytosol
- endoplasmic reticulum membrane
- nucleoplasm
- nucleoli
- acrosome
- microsomal membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the rat Pomt2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- basement membrane organization
- protein O-linked mannosylation
- dentate gyrus development
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- cytosol
- endoplasmic reticulum
- nucleolus
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- mannosyltransferase activity
- metal ion binding
- dolichyl-phosphate-mannose-protein mannosyltransferase activity