ERN2
Chr 16endoplasmic reticulum to nucleus signaling 2
Also known as: IRE1-BETA, IRE1b, IRE2p, hIRE2p
The ERN2 protein is a kinase that cleaves 28S ribosomal RNA to induce translational repression during endoplasmic reticulum stress and promotes apoptosis. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in early infancy with severe developmental delay, refractory seizures, and progressive microcephaly. This gene is not highly constrained against loss-of-function variants in the general population.
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
ERN2 · 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