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 enable choline kinase activity and ethanolamine kinase activity. Predicted to be involved in CDP-choline pathway and phosphatidylethanolamine biosynthetic process. Predicted to act upstream of or within phospholipid biosynthetic process and phosphorylation. Predicted to be active in cytoplasm. 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 | Additional Resources | Length | Protein kinase-like domain superfamily |
|---|---|---|---|
| UniProtKB:A0A8M2B5G6 | InterPro | 378 | |
| UniProtKB:Q1LXT9 | InterPro | 451 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available