SMC3
Overview
SMC3 encodes structural maintenance of chromosomes protein 3, a core ATPase subunit of the cohesin complex. Together with SMC1A, it forms the cohesin ring that mediates sister-chromatid cohesion, DNA repair, and transcriptional regulation. Recurrent mutations in SMC3 and other cohesin subunits are found in ~13% of AML cases, marking cohesin as a recurrently disrupted complex in myeloid leukemia.
Alterations observed in the corpus
- SMC3 is a recurrent cohesin-complex gene mutated in AML (13% combined cohesin prevalence alongside SMC1A, RAD21, and STAG2) PMID:23634996
- Cohesin subunit altered in 2% of transitional cell carcinoma; part of the 32% SCCS-pathway alteration burden defining bladder cancer as the first solid tumor with predominant cohesin lesions PMID:24121792
Cancer types (linked)
- AML: cohesin mutations including SMC3 are present in ~13% of AML cases; form a distinct mutual-exclusivity group with ASXL1 and other epigenetic modifiers PMID:23634996
Co-occurrence and mutual exclusivity
- SMC3 co-mutated with other cohesin subunits (SMC1A, RAD21, STAG2) in AML; the cohesin group is mutually exclusive of ASXL1 in this cohort PMID:23634996
Therapeutic relevance
- No direct therapeutic targeting of SMC3 is reported in the corpus; cohesin-deficient AML may have altered chromatin accessibility affecting drug response.
Open questions
- Individual mutation frequencies and types for SMC3 in AML are not separately reported from the combined cohesin group in this study.
Sources
This page was processed by crosslinker on 2026-05-09. - PMID:24121792
This page was processed by crosslinker on 2026-05-09.