TAF11

Chr 6

TATA-box binding protein associated factor 11

Also known as: MGC:15243, PRO2134, TAF2I, TAFII28

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes a small subunit of TFIID that is present in all TFIID complexes and interacts with TBP. This subunit also interacts with another small subunit, TAF13, to form a heterodimer with a structure similar to the histone core structure. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]

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.
0
Active trials
8
Pubs (1 yr)
P/LP submissions
P/LP missense
0.83
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.112
Z-score 1.92
OE 0.32 (0.150.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.99Z-score
OE missense 0.74 (0.620.89)
87 obs / 117.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.32 (0.150.83)
00.351.4
Missense OE?0.74 (0.620.89)
00.61.4
Synonymous OE?0.86
01.21.6
LoF obs/exp: 3 / 9.3Missense obs/exp: 87 / 117.3Syn Z: 0.74

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TAF11 · 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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