TOX3

Chr 16

TOX high mobility group box family member 3

Also known as: CAGF9, TNRC9

NCBI Gene: 27324 ENSG00000103460 UniProt: O15405

TOX3 encodes a transcriptional coactivator that contains an HMG-box domain and activates gene expression through cAMP response elements, estrogen-responsive promoters, and neuronal depolarization-induced transcription. The gene is highly constrained against loss-of-function variants (pLI 1.0, LOEUF 0.18), but specific disease associations with TOX3 mutations have not been established in pediatric neurology. Clinical significance remains to be determined despite the protein's role in neuronal transcriptional regulation and neuroprotection.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene contains an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]

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)

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P/LP submissions

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P/LP missense

0.18

LOEUF· LoF intol.

LOF

Mechanism· predicted

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