ERN2

Chr 16

endoplasmic reticulum to nucleus signaling 2

Also known as: IRE1-BETA, IRE1b, IRE2p, hIRE2p

NCBI Gene: 10595 ENSG00000134398 UniProt: Q76MJ5 OMIM: 604034

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.

OMIM ResearchSummary from RefSeq, UniProt

Enables several functions, including ATP binding activity; magnesium ion binding activity; and protein serine/threonine kinase activity. Involved in several processes, including apoptotic chromosome condensation; negative regulation of DNA-templated transcription; and rRNA catabolic process. Located in cytosol and endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.03

Clinical Summary— ERN2

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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