SMC2
Chr 9ARstructural maintenance of chromosomes 2
Also known as: CAP-E, CAPE, SMC-2, SMC2L1
The protein is a central component of the condensin complex that converts interphase chromatin into condensed mitotic chromosomes by introducing positive supercoils into DNA. Mutations cause Smith-McCort dysplasia 2, a skeletal dysplasia with autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SMC2 · 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