ICE2
Chr 15interactor of little elongation complex ELL subunit 2
Also known as: BRCC1, NARG2
ICE2 encodes a component of the little elongation complex that regulates small nuclear RNA gene transcription by RNA polymerases II and III, with the protein localizing to Cajal bodies where ribonucleoprotein complexes assemble. Mutations cause neurodevelopmental disorder with growth retardation, seizures, and speech and language delay, inherited in an autosomal recessive pattern. The gene shows very low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed clinically.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ICE2 · 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