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DEE9
Chr XX-linkedprotocadherin 19
Also known as: DEE9, EFMR, EIEE9
The protein is a calcium-dependent cell-adhesion molecule primarily expressed in the brain and belongs to the delta-2 protocadherin subclass of the cadherin superfamily. Mutations cause developmental and epileptic encephalopathy 9, which presents as infantile-onset epileptic encephalopathy and includes a female-restricted form of epilepsy. The condition follows X-linked inheritance with an unusual pattern where heterozygous females are typically more severely affected than hemizygous males.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE9?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
DEE9 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools