Gene
pomk
- ID
- ZDB-GENE-041114-119
- Name
- protein O-mannose kinase
- Symbol
- pomk Nomenclature History
- Previous Names
-
- wu:fc58e12
- zgc:101572
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Exhibits ADP binding activity; kinase activity; and polysaccharide binding activity. Involved in muscle structure development and swimming. Predicted to localize to endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A12 and limb-girdle muscular dystrophy. Orthologous to human POMK (protein O-mannose kinase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7152802 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from DiCostanzo et al., 2014
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital muscular dystrophy-dystroglycanopathy type A12 | Alliance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 | 615249 |
| muscular dystrophy-dystroglycanopathy type C12 | Alliance | ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | 616094 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Protein kinase domain | Protein kinase-like domain superfamily | Protein O-mannose kinase | Serine-threonine/tyrosine-protein kinase, catalytic domain |
|---|---|---|---|---|---|
|
UniProtKB:Q5U3W1
|
347 |
Interactions and Pathways
No data available
Plasmids
No data available