STAG2 (Cohesin subunit SA-2) variants and mutations

STAG2 (also known as Cohesin subunit SA-2) is a human protein-coding gene encoding a cohesin subunit SA-2 protein. It contributes to cohesin complexes that organize chromosomes, sister-chromatid cohesion, and three-dimensional gene regulation. Somatic loss-of-function mutations are common in myeloid neoplasms, bladder cancer, and other tumors, while germline variants can cause cohesinopathy-associated developmental disorders. This analysis covers 2,391 STAG2 variants and mutations. Of these, 33% have computational variant effect predictions. Disease context includes Mullegama-Klein-Martinez syndrome, alobar holoprosencephaly, and neurodegenerative disease. Example STAG2 variants include I2K, I2T, and I2V.

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 STAG2 variants

Examples include I2K, I2T, I2V, I2M, A3T, A3V, A3E, A3G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.