TADA2A

Chr 17

transcriptional adaptor 2A

Also known as: ADA2, ADA2A, KL04P, TADA2L, hADA2

The TADA2A protein is a component of the ATAC histone acetyltransferase complex that acetylates histones H3 and H4, binds double-stranded DNA, and plays a role in chromatin remodeling and transcriptional activation. Mutations cause autosomal dominant intellectual disability with developmental delay, and the gene is highly intolerant to loss-of-function variants. This condition primarily affects neurodevelopment and cognitive function.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.85
Clinical SummaryTADA2A
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.85LOEUF
pLI 0.000
Z-score 2.23
OE 0.57 (0.390.85)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.46Z-score
OE missense 0.74 (0.660.84)
186 obs / 251.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.57 (0.390.85)
00.351.4
Missense OE0.74 (0.660.84)
00.61.4
Synonymous OE1.14
01.21.6
LoF obs/exp: 18 / 31.5Missense obs/exp: 186 / 251.3Syn Z: -1.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TADA2A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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