RMI2
Chr 16RecQ mediated genome instability 2
Also known as: BLAP18, C16orf75
RMI2 encodes an essential component of the RMI complex that regulates homologous recombination DNA repair, sister chromatid segregation, and is required for the stability and function of the BLM helicase complex. Mutations cause Bloom syndrome, an autosomal recessive disorder characterized by severe growth deficiency, immunodeficiency, and predisposition to cancer. The gene shows low constraint against loss-of-function variants (pLI 0.019, LOEUF 1.91), consistent with recessive inheritance patterns.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RMI2 · 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