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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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TAF6
TATA-box binding protein associated factor 6
Chromosome 7 Β· 7q22.1
NCBI Gene: 6878Ensembl: ENSG00000106290.17HGNC: HGNC:11540UniProt: A4D299
146PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA polymerase II general transcription initiation factor activityDNA bindingRNA polymerase II preinitiation complex assemblypositive regulation of transcription initiation by RNA polymerase IIAlazami-Yuan syndromeHIV infectiongenetic disorderneurodegenerative disease
✦AI Summary

TAF6 is a transcriptional coactivator and component of the general transcription factor TFIID complex that regulates RNA polymerase II-dependent gene expression 1. TAF6 functions primarily as a positive regulator of transcription, recruited to promoters of genes including GADD45A and CDKN1A/p21 to drive their upregulation 2. The protein acts as a transcriptional coactivator for TP53/p53-responsive genes such as DUSP1, while paradoxically downregulating MDM2 expression, thereby modulating p53 pathway dynamics. TAF6 can activate transcription and apoptosis independently of p53 status by upregulating pro-apoptotic effectors including BCL2L11/BIM and PMAIP1/NOXA via the intrinsic apoptotic pathway 2. Structurally, TAF6 contains a C-terminal HEAT repeat domain critical for heterodimerization with TAF9 within the TFIID complex, with assembly regulated by the chaperonin CCT 13. In cancer contexts, TAF6 functions downstream of SETD1A to promote G1/S cell cycle progression in gastric cancer cells via the E2F4 axis 4. Disease associations include Alazami-Yuan syndrome and autism spectrum disorder, with TAF6 mutations identified in neurodevelopmental disorder cohorts 56. Alternative splicing of TAF6 generates pro-apoptotic TAF6Ξ΄ isoforms with distinct transcriptional consequences 2.

Sources cited
1
TAF6 contains conserved HEAT repeat C-terminal domains essential for TAF9 heterodimerization within TFIID
PMID: 22696218
2
TAF6Ξ΄ is a pro-apoptotic splice variant that drives transcriptome changes and apoptosis independently of p53
PMID: 25025302
3
Chaperonin CCT regulates TAF5-TAF6-TAF9 submodule assembly and TFIID complex formation
PMID: 30510221
4
TAF6 acts downstream of SETD1A to promote G1/S cell cycle progression in gastric cancer via E2F4 axis
PMID: 40846851
5
TAF6 mutations associated with neurological disease in consanguineous families
PMID: 25558065
6
TAF6 variants identified in autism spectrum disorder cohort involved in gene expression regulation
PMID: 40558542
Disease Associationsβ“˜21
Alazami-Yuan syndromeOpen Targets
0.69Moderate
HIV infectionOpen Targets
0.58Moderate
genetic disorderOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.42Moderate
Intellectual disabilityOpen Targets
0.41Moderate
Cornelia de Lange syndromeOpen Targets
0.33Weak
syndromic intellectual disabilityOpen Targets
0.33Weak
Abnormal facial shapeOpen Targets
0.26Weak
Global developmental delayOpen Targets
0.26Weak
hereditary spastic paraplegiaOpen Targets
0.15Weak
Severe intellectual disability and progressive spastic paraplegiaOpen Targets
0.15Weak
Spastic paraplegiaOpen Targets
0.15Weak
HypercholesterolemiaOpen Targets
0.06Suggestive
coronary artery diseaseOpen Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
congenital lethal erythrodermaOpen Targets
0.03Suggestive
rheumatoid arthritisOpen Targets
0.03Suggestive
coronary atherosclerosisOpen Targets
0.02Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
Alazami-Yuan syndromeUniProt
Pathogenic Variants5
NM_139315.3(TAF6):c.397+2T>CLikely pathogenic
Alazami-Yuan syndrome|Gastric cancer
β˜…β˜†β˜†β˜†2023
NM_139315.3(TAF6):c.721-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2021
NM_139315.3(TAF6):c.958C>T (p.Arg320Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2016β†’ Residue 320
NM_139315.3(TAF6):c.574+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2015
NM_139315.3(TAF6):c.136C>T (p.Arg46Cys)Pathogenic
Cornelia de Lange syndrome 1|Alazami-Yuan syndrome
β˜†β˜†β˜†β˜†2015β†’ Residue 46
View on ClinVar β†—
Related Genes
BRD2Protein interaction100%TRRAPProtein interaction100%SGF29Protein interaction100%SUPT3HProtein interaction100%TADA3Protein interaction100%TAF8Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Ovary
72%
Heart
49%
Lung
49%
Bone Marrow
42%
Liver
31%
Gene Interaction Network
Click a node to explore
TAF6BRD2TRRAPSGF29SUPT3HTADA3TAF8
PROTEIN STRUCTURE
Preparing viewer…
PDB6F3T Β· 2.50 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.83LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.65 [0.51–0.83]
RankingsWhere TAF6 stands among ~20K protein-coding genes
  • #3,119of 20,598
    Most Researched146 Β· top quartile
  • #3,501of 5,498
    Most Pathogenic Variants5
  • #7,035of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedTAF6
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
PMID: 25558065
Cell Rep Β· 2015
1.00
2
Non-catalytic role of SETD1A promotes gastric cancer cell proliferation through the E2F4-TAF6 axis in the cell cycle.
PMID: 40846851
Cell Death Dis Β· 2025
0.90
3
Building transcription complexes.
PMID: 30559461
Nat Struct Mol Biol Β· 2019
0.80
4
TFIID TAF6-TAF9 complex formation involves the HEAT repeat-containing C-terminal domain of TAF6 and is modulated by TAF5 protein.
PMID: 22696218
J Biol Chem Β· 2012
0.70
5
Proteomics and molecular network analyses reveal that the interaction between the TAT-DCF1 peptide and TAF6 induces an antitumor effect in glioma cells.
PMID: 31899468
Mol Omics Β· 2020
0.60