TADA2B

Chr 4

transcriptional adaptor 2B

Also known as: ADA2(beta), ADA2B

NCBI Gene: 93624 ENSG00000173011 UniProt: Q86TJ2

TADA2B encodes a transcriptional adaptor protein that coordinates histone acetyltransferase activity and links transcription factors to basal transcriptional machinery. Mutations cause intellectual disability with speech delay and dysmorphic facies, inherited in an autosomal dominant pattern. The gene shows high constraint against loss-of-function variants, suggesting intolerance to haploinsufficiency.

ResearchSummary from RefSeq, UniProt

TADA2B functions as a transcriptional adaptor protein that potentiates transcription through coordination of histone acetyltransferase (HAT) activity and by linking activation factors to basal transcriptional machinery (Barlev et al., 2003 [PubMed 12972612]).[supplied by OMIM, Apr 2010]

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

0.49

LOEUF

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Mechanism

Some data sources returned errors (1)

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