Gene
pomt2
- ID
- ZDB-GENE-070112-1002
- Name
- protein-O-mannosyltransferase 2
- Symbol
- pomt2 Nomenclature History
- Previous Names
-
- im:7153045
- zgc:158749
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Exhibits dolichyl-phosphate-mannose-protein mannosyltransferase activity. Involved in protein O-linked mannosylation. Predicted to localize to endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in lissencephaly and muscular dystrophy (multiple). Is expressed in several structures, including brain; fin bud; liver; muscle; and pleuroperitoneal region. Orthologous to human POMT2 (protein O-mannosyltransferase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7153045 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive limb-girdle muscular dystrophy type 2N | Alliance | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | 613158 |
| congenital muscular dystrophy-dystroglycanopathy type A2 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | 613150 |
| muscular dystrophy-dystroglycanopathy type B2 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2 | 613156 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Glycosyltransferase 39-like | Glycosyl transferase family 39/83 | Mir domain superfamily | MIR motif | Protein O-mannosyl-transferase, C-terminal four TM domain |
|---|---|---|---|---|---|---|
|
UniProtKB:F1Q8R9
|
756 |
Interactions and Pathways
No data available
Plasmids
No data available