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DYT2
ARdystonia 2, torsion (autosomal recessive)
The DYT2 gene encodes torsinA, an AAA+ ATPase that resides in the endoplasmic reticulum and nuclear envelope where it regulates protein folding and nuclear envelope integrity. Mutations cause autosomal recessive torsion dystonia (dystonia 2), a movement disorder characterized by involuntary muscle contractions and abnormal postures. This represents a distinct form of inherited dystonia with recessive inheritance, differentiating it from the more common early-onset generalized dystonia caused by dominant DYT1 mutations.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DYT2?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
DYT2 · 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 →External Resources
Links to major genomics databases and tools