CDKL2: Cyclin Dependent Kinase Like 2
A serine/threonine-protein kinase involved in neuronal development and function
Gene Information Card
| Symbol | CDKL2 |
|---|---|
| Full Name | Cyclin Dependent Kinase Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 4q21.1 |
| NCBI Gene ID | 8999 ncbi.nlm.nih.gov/gene/8999 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q92772 |
| OMIM ID | 603442 |
| HGNC ID | 1780 |
| Aliases | P56, KKIAMRE |
Description
CDKL2 (Cyclin Dependent Kinase Like 2) is a protein-coding gene that encodes a member of the cyclin-dependent kinase-like (CDKL) family of serine/threonine kinases. The protein is predominantly expressed in the brain, particularly in the cerebral cortex and hippocampus, and is involved in neuronal differentiation, synaptic plasticity, and microtubule dynamics. CDKL2 phosphorylates microtubule-associated proteins and regulates neurite outgrowth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Loss-of-function mutations in CDKL2 may impair neuronal signaling and synaptic development, leading to cognitive deficits. | ClinVar; PMID: 25620204 |
| Epileptic encephalopathy | Missense variants in CDKL2 have been reported in patients with early-onset seizures, suggesting a role in neuronal excitability. | ClinVar; PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (hippocampus) | 14.2 | Medium |
| Brain (cerebellum) | 8.1 | Low |
| Testis | 3.4 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.8 | High expression; used in neuronal studies |
| U-87 MG (glioblastoma) | 9.2 | Moderate expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.215C>T (p.Pro72Leu) | Missense | <0.01% | Likely damaging; affects kinase domain |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Pathogenic; associated with intellectual disability |
| c.1024_1025del (p.Leu342fs) | Frameshift | <0.01% | Loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the kinase domain lead to loss of enzymatic activity and impaired neuronal signaling.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CDKL2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for CDKL2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• MAPK signaling pathway (Reactome: R-HSA-5683057)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
• Neuronal System (Reactome: R-HSA-112316)
Protein Summary
CDKL2 is a 56 kDa serine/threonine kinase belonging to the CMGC family of kinases. It contains an N-terminal catalytic domain with a conserved T-loop motif and a C-terminal regulatory region. The protein is localized to the cytoplasm and neurites, where it phosphorylates substrates such as MAP1B and DCX, regulating microtubule stability and neuronal migration. CDKL2 expression is highest in post-mitotic neurons of the cerebral cortex and hippocampus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CDKL2 Knockout HEK293 Cell Line | EDJ-KQ6427 | Human | 8999 | Details Get a Quote |
| CDKL2 Knockout A-549 Cell Line | EDJ-KQ29152 | Human | 8999 | Details Get a Quote |
| CDKL2 Knockout HeLa Cell Line | EDJ-KQ55053 | Human | 8999 | Details Get a Quote |
| CDKL2 Knockout HCT 116 Cell Line | EDJ-KQ72005 | Human | 8999 | Details Get a Quote |
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