ATAD2

Chr 8

ATPase family AAA domain containing 2

Also known as: ANCCA, CT137, PRO2000

NCBI Gene: 29028 ENSG00000156802 UniProt: Q6PL18

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.

ResearchSummary from RefSeq, UniProt

A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.27

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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