Gene
cdkl5
- ID
- ZDB-GENE-081022-110
- Name
- cyclin dependent kinase like 5
- Symbol
- cdkl5 Nomenclature History
- Previous Names
-
- zgc:194395
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Exhibits cyclin-dependent protein serine/threonine kinase activity. Predicted to be involved in positive regulation of axon extension; protein phosphorylation; and regulation of dendrite development. Localizes to cytoplasm and nucleus. Human ortholog(s) of this gene implicated in Rett syndrome; early infantile epileptic encephalopathy 2; intellectual disability; and visual epilepsy. Is expressed in several structures, including eye; fin; gonad; heart; and muscle. Orthologous to human CDKL5 (cyclin dependent kinase like 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 2 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 2 | Alliance | Developmental and epileptic encephalopathy 2 | 300672 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR008271 | Serine/threonine-protein kinase, active site |
| Binding_site | IPR017441 | Protein kinase, ATP binding site |
| Domain | IPR000719 | Protein kinase domain |
| Family | IPR050108 | Cyclin-dependent kinase |
| Family | IPR050117 | Mitogen-activated protein kinase |
| Homologous_superfamily | IPR011009 | Protein kinase-like domain superfamily |
Domain Details Per Protein
| Protein | Length | Cyclin-dependent kinase | Mitogen-activated protein kinase | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Serine/threonine-protein kinase, active site |
|---|---|---|---|---|---|---|---|
|
UniProtKB:B9X2H6
|
1080 | ||||||
|
UniProtKB:B3DI12
|
1039 | ||||||
|
UniProtKB:A0A8M3B458
|
887 | ||||||
|
UniProtKB:B9X2H5
|
1039 |
Interactions and Pathways
No data available
Plasmids
No data available