TAF6: TATA-Box Binding Protein Associated Factor 6
A core component of the TFIID complex involved in transcription initiation and DNA repair
Gene Information Card
| Symbol | TAF6 |
|---|---|
| Full Name | TATA-box binding protein associated factor 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 6878 ncbi.nlm.nih.gov/gene/6878 |
| Ensembl ID | ENSG00000106211 |
| UniProt ID | P49848 |
| OMIM ID | 602955 |
| HGNC ID | 11540 |
| Aliases | TAFII70, TAF2E, TAFII-70, TAFII70alpha |
Description
TAF6 (TATA-box binding protein associated factor 6) is a protein-coding gene that encodes a subunit of the transcription factor IID (TFIID) complex. TFIID is a multimeric complex essential for the initiation of RNA polymerase II-dependent transcription. TAF6 directly binds to the TATA-binding protein (TBP) and contributes to promoter recognition and transcriptional activation. Additionally, TAF6 is involved in DNA repair processes, particularly in the nucleotide excision repair pathway. Mutations in TAF6 have been linked to developmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alazami syndrome | Loss-of-function mutations in TAF6 impair TFIID assembly, leading to global transcriptional dysregulation and developmental defects. | ClinVar; OMIM #617126 |
| Neurodevelopmental disorder with hypotonia and speech delay | Homozygous missense variants in TAF6 disrupt protein stability and TFIID function. | ClinVar; PMID: 32014858 |
| Colorectal cancer | Somatic mutations and altered expression of TAF6 contribute to aberrant transcription of oncogenes and tumor suppressors. | COSMIC; PMID: 28270526 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lymph node | 9.8 | Medium |
| Brain | 7.5 | Medium |
| Liver | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical adenocarcinoma cell line |
| K562 | 11.5 | Chronic myeloid leukemia cell line |
| HEK293 | 10.8 | Embryonic kidney cell line |
| HepG2 | 9.3 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.758G>A (p.Arg253Gln) | Missense | Rare | Reduced TFIID complex stability; associated with Alazami syndrome |
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Impaired DNA binding; linked to neurodevelopmental disorder |
| c.1234_1235insA (p.Thr412Asnfs*5) | Frameshift | Very rare | Loss of function; truncation of C-terminal domain |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or destabilize the TFIID complex lead to loss of transcriptional activation function.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported for TAF6.
Dominant Negative (DN)
Missense mutations in the TBP-binding domain may produce a dominant-negative effect by sequestering TBP into non-functional complexes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RNA polymerase II transcription initiation (Reactome R-HSA-75953)
• Nucleotide excision repair (Reactome R-HSA-5696398)
• TFIID assembly (Reactome R-HSA-6804756)
Protein Summary
TAF6 encodes a 677-amino-acid protein (UniProt P49848) that contains a histone-fold domain (HFD) critical for heterodimerization with TAF9 and integration into the TFIID complex. The protein also possesses a C-terminal domain involved in TBP binding. TAF6 is ubiquitously expressed with higher levels in testis and lymphoid tissues. Post-translational modifications include phosphorylation and acetylation, which modulate its activity. Structural studies reveal that TAF6 forms a dimer with TAF9, contributing to the structural integrity of TFIID.
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