Cdkl5 Gene Summary [Mouse]
Predicted to enable ATP binding activity; protein kinase activity; and small GTPase binding activity. Acts upstream of or within protein localization to nucleus. Predicted to be located in several cellular components, including ciliary tip; microtubule organizing center; and ruffle membrane. Predicted to be active in several cellular components, including dendrite cytoplasm; glutamatergic synapse; and postsynaptic density, intracellular component. Is expressed in several structures, including brain; genitourinary system; liver; muscle tissue; and spleen. Used to study developmental and epileptic encephalopathy 2. Human ortholog(s) of this gene implicated in Rett syndrome; developmental and epileptic encephalopathy 2; and intellectual disability. Orthologous to human CDKL5 (cyclin dependent kinase like 5). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | Cdkl5 |
| Official Name | cyclin-dependent kinase-like 5 [Source:MGI Symbol;Acc:MGI:1278336] |
| Ensembl ID | ENSMUSG00000031292 |
| Bio databases IDs | |
| Aliases | cyclin-dependent kinase-like 5 |
| Synonyms | CFAP247, cyclin-dependent kinase-like 5, DEE2, EIEE2, ISSX, LOC100364794, STK9 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Cdkl5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- Serine/Threonine protein kinases, catalytic domain
- protein serine/threonine kinase
- protein kinase
- Protein Kinases, catalytic domain
- Protein tyrosine and serine/threonine kinase
- ATP binding
- enzyme binding
- protein binding
- Protein kinase domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- CDKL5 deficiency
- early infantile epileptic encephalopathy 2
- atypical Rett syndrome
- autism
- Rett syndrome
- Rett syndrome variant with infantile spasms
- West syndrome
- neurodevelopmental disorder
- Ohtahara syndrome
role in cell
- phosphorylation in
- activation in
- migration
- binding in
- formation
- formation in
- growth
- activity
- polarization
- development
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- glutaminergic synapse
- ciliary tip
- organelle
- Cytoplasm
- perinuclear region
- basal bodies
- centrosome
- membrane ruffles
- nuclear foci
- nucleoplasm
- dendritic spines
- growth cone
- neurites
- dendrites
- excitatory synapses
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Cdkl5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of dendrite development
- neuron migration
- protein autophosphorylation
- regulation of synaptic transmission
- positive regulation of dendritic spine development
- positive regulation of axon extension
- regulation of cell cycle
- protein phosphorylation
- positive regulation of GTPase activity
- positive regulation of dendrite morphogenesis
Cellular Component
Where in the cell the gene product is active
- nucleus
- dendritic growth cone
- centrosome
- perinuclear region of cytoplasm
- cilium basal body
- dendrite cytoplasm
- ruffle membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- small GTPase binding
- protein kinase activity
- cyclin-dependent protein kinase activity
- protein serine/threonine kinase activity
- kinase activity