TAF8

Chr 6AR

TATA-box binding protein associated factor 8

Also known as: II, NEDMLHB, TAF, TAF(II)43, TAFII-43, TAFII43, TBN

This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
LOFmechanismARLOEUF 1.571 OMIM phenotype
Clinical SummaryTAF8
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?
1.57LOEUF
pLI 0.000
Z-score -0.25
OE 1.07 (0.741.57)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.24Z-score
OE missense 0.95 (0.841.08)
186 obs / 195.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.07 (0.741.57)
00.351.4
Missense OE?0.95 (0.841.08)
00.61.4
Synonymous OE?1.25
01.21.6
LoF obs/exp: 18 / 16.9Missense obs/exp: 186 / 195.3Syn Z: -1.77
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
moderateTAF8-related neurodevelopmental disorderOTHERAR

This gene — mechanism propensity

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.4289th %ile
GOF
0.3094th %ile
LOF
0.64top 25%

The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TAF8 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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