TAF2

Chr 8AR

TATA-box binding protein associated factor 2

Also known as: CIF150, MRT40, TAF2B, TAFII150

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 one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal recessive 40MIM #615599
AR
UniProtNeurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity
0
Active trials
0
Pathogenic / LP
0
ClinVar variants
3
Pubs (1 yr)
2.8
Missense Z
0.42
LOEUF
Clinical SummaryTAF2
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.

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

TAF2 · protein map & ClinVar variants

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

Gene2Phenotype Curations

TAF2-related intellectual developmental disorder

limited
ARUndeterminedAltered Gene Product Structure
Dev. Disorders
G2P ↗
missense variantinframe deletioninframe insertion

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC