SECISBP2
Chr 9ARSECIS binding protein 2
Also known as: SBP2, THMA1
The protein binds to SECIS elements in the 3'-UTR of selenoprotein mRNAs and facilitates incorporation of selenocysteine at UGA codons during translation. Autosomal recessive mutations cause abnormal thyroid hormone metabolism type 1 through reduced activity of selenoproteins, particularly type II iodothyronine deiodinase. The pathogenic mechanism involves impaired selenocysteine insertion into selenoproteins, disrupting their enzymatic function.
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
SECISBP2 · 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