TSTD2
Chr 9thiosulfate sulfurtransferase like domain containing 2
Also known as: C9orf97
The protein is predicted to have transferase activity, though its specific cellular function remains unclear. Mutations cause autosomal recessive intellectual disability with language impairment and autistic behaviors, typically manifesting in early childhood. This gene is not highly constrained against loss-of-function variants, which is consistent with the recessive inheritance pattern observed in affected individuals.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TSTD2 · 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