Gene
chkb
- ID
- ZDB-GENE-030131-2928
- Name
- choline kinase beta
- Symbol
- chkb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to have kinase activity. Predicted to be involved in phosphorylation. Human ortholog(s) of this gene implicated in intellectual disability; megaconial type congenital muscular dystrophy; muscular dystrophy; narcolepsy; and recurrent hypersomnia. Orthologous to human CHKB (choline kinase beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2005
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu1045 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| megaconial type congenital muscular dystrophy | Alliance | Muscular dystrophy, congenital, megaconial type | 602541 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Protein kinase-like domain superfamily |
|---|---|---|
|
UniProtKB:A0A8M2B5G6
|
378 | |
|
UniProtKB:Q1LXT9
|
451 |
Interactions and Pathways
No data available
Plasmids
No data available