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: P49848OMIM: 602955

TAF6 encodes a subunit of transcription factor IID (TFIID) that binds to TAF1 and participates in RNA polymerase II transcription initiation at gene promoters. Biallelic mutations cause Alazami-Yuan syndrome, an autosomal recessive disorder. The pathogenic mechanism involves disruption of basal transcription machinery essential for proper gene expression regulation.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.781 OMIM phenotype
Clinical Summary— TAF6
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
27 unique Pathogenic / Likely Pathogenic· 152 VUS of 310 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.78LOEUF
pLI 0.000
Z-score 2.58
OE 0.53 (0.37–0.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.97Z-score
OE missense 0.74 (0.68–0.81)
333 obs / 450.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.53 (0.37–0.78)
0≤0.351.4
Missense OE0.74 (0.68–0.81)
0≤0.61.4
Synonymous OE1.15
0≤1.21.6
LoF obs/exp: 19 / 35.6Missense obs/exp: 333 / 450.4Syn Z: -1.64

ClinVar Variant Classifications

310 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic22
Likely Pathogenic5
VUS152
Likely Benign67
Benign28
Conflicting3
22
Pathogenic
5
Likely Pathogenic
152
VUS
67
Likely Benign
28
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
1
20
0
22
Likely Pathogenic
3
0
2
0
5
VUS
7
136
8
1
152
Likely Benign
1
9
16
41
67
Benign
1
1
19
7
28
Conflicting
—3
Total131476549277

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.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
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
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
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
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Long non-coding RNA ZBTB46-AS1 promotes ovarian cancer progression through regulation of p53 activity by TAF6 protein.
Wang L et al.·Am J Transl Res
2026
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
2025Open 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
2024Open 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
2022Open 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
2021Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients