NCOA2

The NCOA2 protein functions as a transcriptional coactivator for nuclear hormone receptors, including steroid, thyroid, retinoid, and vitamin D receptors, and plays a critical role in glucose metabolism regulation and circadian clock function. Mutations in NCOA2 cause neurodevelopmental disorders with variable features including intellectual disability, developmental delay, and growth abnormalities, typically with autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants in the general population, indicating that such mutations are likely to be pathogenic when they occur.