ERI2
Chr 16ERI1 exoribonuclease family member 2
Also known as: EXOD1, ZGRF5
The ERI2 protein functions as a 3'-5'-RNA exonuclease that degrades RNA substrates. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, presenting in early infancy with seizures, severe developmental delay, and progressive brain atrophy. This gene is extremely intolerant to loss-of-function variants, indicating its critical importance for normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ERI2 · 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 →No open access results found
External Resources
Links to major genomics databases and tools