SMO (Protein smoothened) variants and mutations

SMO (also known as Protein smoothened) is a human protein-coding gene encoding a protein smoothened protein. It transmits Hedgehog signals across the membrane after inhibition by PTCH1 is relieved, activating GLI-dependent developmental transcription. Activating variants or upstream pathway loss can drive basal-cell carcinoma, medulloblastoma, and other Hedgehog-dependent tumors. This analysis covers 3,706 SMO variants and mutations. Of these, 39% have computational variant effect predictions. Disease context includes Curry-Jones syndrome, basal cell carcinoma, and congenital hypothalamic hamartoma syndrome. Example SMO variants include A2D, A2G, and A2P.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable SMO variants

Examples include A2D, A2G, A2P, A2S, A2T, A2V, A2A, A3G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.