CDKL5

CDKL5
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	4BGQ
Identifiers
Aliases	CDKL5, EIEE2, ISSX, STK9, CFAP247, cyclin dependent kinase like 5, DEE2
External IDs	OMIM: 300203; MGI: 1278336; HomoloGene: 55719; GeneCards: CDKL5; OMA:CDKL5 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	18,653,629 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	159,777,700 bp
RNA expression pattern
	Top expressed in
	frontal pole; ; Brodmann area 23; ; lateral nuclear group of thalamus; ; middle temporal gyrus; ; endothelial cell; ; palpebral conjunctiva; ; primary visual cortex; ; superior frontal gyrus; ; entorhinal cortex; ; visceral pleura;
	Top expressed in
	medial dorsal nucleus; ; medial geniculate nucleus; ; primary motor cortex; ; lateral geniculate nucleus; ; lateral septal nucleus; ; cingulate gyrus; ; piriform cortex; ; Region I of hippocampus proper; ; prefrontal cortex; ; olfactory tubercle;
	More reference expression data
	n/a
Gene ontology
Molecular function	transferase activity; protein kinase activity; nucleotide binding; kinase activity; protein serine/threonine kinase activity; ATP binding; cyclin-dependent protein serine/threonine kinase activity;
Cellular component	dendritic growth cone; nucleoplasm; ruffle membrane; nucleus; cytosol; dendrite cytoplasm; synapse; perinuclear region of cytoplasm; centrosome; ciliary basal body; ciliary tip; cytoplasm; microtubule organizing center; cytoskeleton; cell projection; glutamatergic synapse; postsynaptic density, intracellular component;
Biological process	phosphorylation; neuron migration; protein phosphorylation; positive regulation of GTPase activity; positive regulation of dendrite morphogenesis; protein autophosphorylation; positive regulation of axon extension; regulation of dendrite development; positive regulation of dendritic spine development; regulation of cilium assembly; regulation of cell cycle; regulation of postsynapse organization;
	Sources:Amigo / QuickGO
Orthologs
	6792
	382253
	ENSG00000008086
	ENSMUSG00000031292
	O76039
	Q3UTQ8
	NM_001037343; NM_003159; NM_001323289
	NM_001024624
	NP_001032420; NP_001310218; NP_003150
	NP_001019795
	Wikidata
View/Edit Human	View/Edit Mouse

Cyclin-dependent kinase-like 5 (CDKL5) is a serine/threonine protein kinase that in humans is encoded by the CDKL5 gene. It is critically involved in early brain development and function, particularly in neuronal maturation and synaptic regulation. Mutations in CDKL5 are associated with CDKL5 deficiency disorder (CDD), a severe neurodevelopmental condition that manifests with early-onset epilepsy, developmental delay, and motor and cognitive impairment. CDKL5 is closely related to the cyclin-dependent kinase family and has been implicated in disorders such as Rett syndrome and other epileptic encephalopathies.