TAF2

Chr 8

TATA-box binding protein associated factor 2

Also known as: CIF150, MRT40, TAF2B, TAFII150

NCBI Gene: 6873 ENSG00000064313 UniProt: Q6P1X5

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.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

LOEUF 0.42

Clinical Summary— TAF2

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.

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ClinVar Variants

6 unique Pathogenic / Likely Pathogenic· 176 VUS of 369 total submissions

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.42LOEUF

pLI 0.003

Z-score 5.19

OE 0.28 (0.19–0.42)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.78Z-score

OE missense 0.69 (0.63–0.74)

427 obs / 622.4 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.28 (0.19–0.42)

0≤0.351.4

Missense OE?0.69 (0.63–0.74)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 17 / 60.6Missense obs/exp: 427 / 622.4Syn Z: -0.04

ClinVar Variant Classifications

369 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic2

Likely Pathogenic4

VUS176

Likely Benign125

Benign30

Conflicting3

Pathogenic

Likely Pathogenic

176

VUS

125

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	1	1	0	2
Likely Pathogenic	3	1	0	0	4
VUS	10	156	10	0	176
Likely Benign	0	3	54	68	125
Benign	0	7	14	9	30
Conflicting	—				3
Total	13	168	79	77	340

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

54 pathogenic / likely-pathogenic (of 63) ClinVar copy-number / structural variants overlap TAF2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →