ATXN2L
Chr 16ataxin 2 like
Also known as: A2D, A2LG, A2LP, A2RP
The protein regulates stress granule and P-body formation, which are cellular structures involved in RNA metabolism and stress response. This gene is extremely intolerant to loss-of-function variants (pLI ~1.0, LOEUF 0.143), suggesting that mutations would likely cause severe developmental consequences, though specific disease associations have not yet been established in humans. The protein belongs to the spinocerebellar ataxia family, indicating potential involvement in neurodegenerative processes affecting cerebellar function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
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
ATXN2L · 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