Ensembl is currently experiencing issues
The Ensembl REST API is temporarily unavailable. Some gene data (transcript details, protein domains) may be incomplete. Other data sources are unaffected.
You can check Ensembl's status at status.ensembl.org
DEE113
Chr 1ARsynaptic vesicle glycoprotein 2A
Also known as: DEE113, SLC22B1, SV2
This gene encodes a synaptic vesicle protein that interacts with synaptotagmin to enhance low frequency neurotransmission in quiescent neurons. Mutations cause developmental and epileptic encephalopathy 113, characterized by early-onset seizures and developmental delays. The condition follows an autosomal recessive inheritance pattern.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DEE113?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
DEE113 · 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 publications found for DEE113
External Resources
Links to major genomics databases and tools