EME2
Chr 16essential meiotic structure-specific endonuclease subunit 2
Also known as: SLX2B, gs125
EME2 encodes the non-catalytic subunit of the MUS81-EME2 endonuclease complex that cleaves DNA structures during replication fork processing and genome maintenance. Mutations cause a rare autosomal recessive disorder characterized by severe intellectual disability, microcephaly, growth retardation, and distinctive facial features. This gene shows low constraint against loss-of-function variants, consistent with recessive inheritance where heterozygous carriers are typically unaffected.
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
EME2 · 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