SPATS2L
Chr 2spermatogenesis associated serine rich 2 like
Also known as: DNAPTP6, SGNP
The SPATS2L protein enables RNA binding activity and is located in the cytosol, nucleolus, and nucleoplasm where it functions as part of protein-containing complexes. Mutations in SPATS2L cause neurodevelopmental disorders with intellectual disability, and the gene shows high constraint against loss-of-function variants (LOEUF 0.434), indicating intolerance to protein disruption. The inheritance pattern and specific phenotypic details require additional clinical data for complete characterization.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SPATS2L · 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