SEPHS2
Chr 16selenophosphate synthetase 2
The protein is a selenophosphate synthase that generates the selenium donor required for selenocysteine biosynthesis, catalyzing the formation of selenophosphate from selenide and ATP. Mutations cause autosomal recessive pontocerebellar hypoplasia type 2D, a severe neurodevelopmental disorder affecting the brainstem and cerebellum. The gene shows minimal constraint to loss-of-function variants (pLI 0.002, LOEUF 0.998), which is consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SEPHS2 · 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