POMT2 Gene Summary [Human]
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | POMT2 |
| Official Name | protein O-mannosyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:19743] |
| Ensembl ID | ENSG00000009830 |
| Bio databases IDs | |
| Aliases | protein O-mannosyltransferase 2, Dolichyl-phosphate-mannose--protein mannosyltransferase |
| Synonyms | LGMD2N, LGMDR14, LOC681879, MDDGA2, MDDGB2, MDDGC2, protein-O-mannosyltransferase 2 |
| 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 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 human 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