ELP2
Chr 18ARelongator acetyltransferase complex subunit 2
Also known as: MRT58, SHINC-2, STATIP1, StIP
ELP2 encodes a core subunit of the elongator complex, which catalyzes essential tRNA modifications including carboxymethyluridine formation at the wobble base position and functions as a histone acetyltransferase that associates with RNA polymerase II for transcriptional elongation. Biallelic mutations cause autosomal recessive intellectual developmental disorder. This represents a relatively recently described cause of intellectual disability involving defects in tRNA modification pathways.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ELP2 · 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