ATAD2
Chr 8ATPase family AAA domain containing 2
Also known as: ANCCA, CT137, PRO2000
ATAD2 encodes a chromatin-associated ATPase with two AAA domains and a bromodomain that functions as a transcriptional coactivator, particularly for estrogen receptor signaling and cell cycle progression. The gene is highly constrained against loss-of-function variants (pLI 0.998, LOEUF 0.273), but definitive disease associations in humans have not been established. Variants in this gene may potentially affect transcriptional regulation and chromatin remodeling processes.
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
ATAD2 · 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