TSPYL2
Chr XTSPY like 2
Also known as: CDA1, CINAP, CTCL, DENTT, HRIHFB2216, NP79, SE204, TSPX
The protein functions in chromatin remodeling and nucleosome assembly as part of a transcriptional complex that responds to neuronal synaptic activity, and also inhibits cell cycle progression. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay, inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants, reflecting its essential role in neuronal function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 43 | 0 | 43 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 1 | 89 | 1 | 0 | 91 |
Likely Benign | 0 | 6 | 1 | 3 | 10 |
Benign | 0 | 1 | 1 | 0 | 2 |
Conflicting | — | 1 | |||
| Total | 1 | 96 | 50 | 3 | 151 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TSPYL2 · 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