C16ORF89
Chr 16chromosome 16 open reading frame 89
The protein is expressed predominantly in thyroid tissue and likely functions in thyroid development and function based on expression patterns similar to thyroid transcription factors. Mutations cause autosomal recessive primary congenital hypothyroidism with thyroid dysgenesis, presenting in the neonatal period with features of severe hypothyroidism. The gene is highly constrained against loss-of-function variation in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
C16ORF89 · 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