TAF6

Chr 7AR

TATA-box binding protein associated factor 6

Also known as: ALYUS, MGC:8964, TAF(II)70, TAF(II)80, TAF2E, TAFII-70, TAFII-80, TAFII70

NCBI Gene: 6878ENSG00000106290UniProt: P49848

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 smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]

Primary Disease Associations & Inheritance

Alazami-Yuan syndromeMIM #617126
AR
274
ClinVar variants
25
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— TAF6
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
25 Pathogenic / Likely Pathogenic· 152 VUS of 274 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.78LOEUF
pLI 0.000
Z-score 2.58
OE 0.53 (0.37–0.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.97Z-score
OE missense 0.74 (0.68–0.81)
333 obs / 450.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.53 (0.37–0.78)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.74 (0.68–0.81)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.15
0≤1.21.6
LoF obs/exp: 19 / 35.6Missense obs/exp: 333 / 450.4Syn Z: -1.64

ClinVar Variant Classifications

274 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic20
Likely Pathogenic5
VUS152
Likely Benign66
Benign28
Conflicting3
20
Pathogenic
5
Likely Pathogenic
152
VUS
66
Likely Benign
28
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
1
19
0
20
Likely Pathogenic
3
0
2
0
5
VUS
6
135
10
1
152
Likely Benign
1
9
16
40
66
Benign
1
1
19
7
28
Conflicting
—3
Total111466648274

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

View in ClinVar →

Protein Context — Lollipop Plot

TAF6 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Alazami-Yuan syndrome

MIM #617126

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM et al.·Cell Rep
2015
Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants.
Belenska-Todorova L et al.·Cells
2025Cohort
The third family with TAF6-related phenotype: Alazami-Yuan syndrome.
Tuc E et al.·Clin Genet
2020Case report
TAF6delta controls apoptosis and gene expression in the absence of p53.
Wilhelm E et al.·PLoS One
2008
Rare Deletions or Large Duplications Contribute to Genetic Variation in Patients with Severe Tinnitus and Meniere Disease.
Escalera-Balsera A et al.·Genes (Basel)
2023Cohort
BIM and NOXA are mitochondrial effectors of TAF6δ-driven apoptosis.
Delannoy A et al.·Cell Death Dis
2018
Integrative genomic and gene expression analysis of chromosome 7 identified novel oncogene loci in non-small cell lung cancer.
Campbell JM et al.·Genome
2008
Utility of whole-exome sequencing for patients with multiple congenital anomalies with or without intellectual disability/developmental delay in East Asia population.
Hsu RH et al.·Mol Genet Genomic Med
2023Cohort
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.
Yuan B et al.·J Clin Invest
2015Clinical trial
Malignant fibrous histiocytoma--pleomorphic sarcoma, NOS gene expression, histology, and clinical course. A pilot study.
Daigeler A et al.·Langenbecks Arch Surg
2010
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Non-catalytic role of SETD1A promotes gastric cancer cell proliferation through the E2F4-TAF6 axis in the cell cycle.
Ning M et al.·Cell Death Dis
2025🔓 Open Access
Taenia solium TAF6 and TAF9 bind to a downstream promoter element present in the Tstbp1 gene core promoter.
Rodríguez-Lima O et al.·PLoS One
2024🔓 Open Access
Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome: A case report.
Lin SZ et al.·World J Clin Cases
2022🔓 Open AccessCase report
Crystal structures of three copper(II)-2,2'-bi-pyridine (bpy) compounds, [Cu(bpy)2(H2O)][SiF6]·4H2O, [Cu(bpy)2(TaF6)2] and [Cu(bpy)3][TaF6]2 and a related coordination polymer, [Cu(bpy)(H2O)2SnF6] n.
Nisbet ML et al.·Acta Crystallogr E Crystallogr Commun
2021🔓 Open Access
Proteomics and molecular network analyses reveal that the interaction between the TAT-DCF1 peptide and TAF6 induces an antitumor effect in glioma cells.
Wang J et al.·Mol Omics
2020
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools