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DEE2
Chr XXLDcyclin dependent kinase like 5
Also known as: CFAP247, DEE2, EIEE2, ISSX, STK9
This protein kinase phosphorylates proteins and regulates cellular signaling pathways. Mutations cause developmental and epileptic encephalopathy 2, an X-linked dominant condition that can present as infantile spasm syndrome (West syndrome) with early onset seizures and developmental delays. The gene primarily affects neurological development and seizure control.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE2?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DEE2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
International CDKL5 Clinical Research Network
RECRUITINGLongitudinal Study of Phenotypic and Developmental Severity in Patients With Dravet Syndrome With SCN1A Gene Mutation
RECRUITINGA Clinical Study to Evaluate the Safety and Efficacy of ETX101 in Infants and Children With SCN1A-Positive Dravet Syndrome
RECRUITINGNeurodevelopmental Impact of Epilepsy on Autonomic Function in Dravet Syndrome
ACTIVE NOT RECRUITINGA Clinical Study to Evaluate the Safety and Efficacy of ETX101, an AAV9-Delivered Gene Therapy in Children With SCN1A-positive Dravet Syndrome (Australia Only)
ACTIVE NOT RECRUITINGA Clinical Study to Evaluate the Safety and Efficacy of ETX101, an AAV9-Delivered Gene Therapy in Children With SCN1A-positive Dravet Syndrome
ACTIVE NOT RECRUITINGA PET-MRI Study of Serotoninergic Brainstem Pathway in Patients With Dravet Syndrome
RECRUITINGEXploring novEl Molecular Determinants of DRAvet Syndrome Phenotype Heterogeneity
ENROLLING BY INVITATIONNo open access results found
External Resources
Links to major genomics databases and tools