ELAVL2
Chr 9ELAV like RNA binding protein 2
Also known as: HEL-N1, HELN1, HUB
ELAVL2 encodes a neuron-specific RNA-binding protein that regulates gene expression by binding to AU-rich elements in the 3' untranslated regions of target mRNAs, including its own transcript and those of FOS, ID, and POU5F1. Mutations cause autosomal dominant or recessive neurodevelopmental disorders with epilepsy, intellectual disability, and movement abnormalities. The gene is highly constrained against loss-of-function variants, indicating that ELAVL2 function is critical for normal neuronal development and function.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ELAVL2 · 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