TAF2

Chr 8AR

TATA-box binding protein associated factor 2

TAF2 encodes a large subunit of transcription factor IID (TFIID) that contributes to RNA polymerase II-mediated transcription initiation and helps determine transcription complex response to activators. Mutations cause intellectual developmental disorder, autosomal recessive 40, through disruption of basal transcription machinery essential for proper gene expression.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.421 OMIM phenotype
Clinical SummaryTAF2
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.42LOEUF
pLI 0.003
Z-score 5.19
OE 0.28 (0.190.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.78Z-score
OE missense 0.69 (0.630.74)
427 obs / 622.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.28 (0.190.42)
00.351.4
Missense OE0.69 (0.630.74)
00.61.4
Synonymous OE1.00
01.21.6
LoF obs/exp: 17 / 60.6Missense obs/exp: 427 / 622.4Syn Z: -0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TAF2 · 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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