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DEE2
Chr Xcyclin dependent kinase like 5
Also known as: CFAP247, DEE2, EIEE2, ISSX, STK9
This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
Some data sources returned errors (3)
ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DEE2?content-type=application/json
gnomad: Error: Gene not found
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar
No ClinVar data available.
Protein Context — Lollipop Plot
DEE2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Study to Evaluate the Safety and Pharmacokinetics of RC001 in Children With Dravet Syndrome
RECRUITINGA Clinical Study to Evaluate the Safety and Efficacy of ETX101 in Infants and Children With SCN1A-Positive Dravet Syndrome
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
RECRUITINGNeurodevelopmental Impact of Epilepsy on Autonomic Function in Dravet Syndrome
ACTIVE NOT RECRUITINGInternational 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, an AAV9-Delivered Gene Therapy in Children With SCN1A-positive Dravet Syndrome (Australia Only)
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools