TAF9: TATA-Box Binding Protein Associated Factor 9
A core component of the TFIID complex involved in transcription initiation and DNA repair.
Gene Information Card
| Symbol | TAF9 |
|---|---|
| Full Name | TATA-box binding protein associated factor 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 5q13.2 |
| NCBI Gene ID | 6880 ncbi.nlm.nih.gov/gene/6880 |
| Ensembl ID | ENSG00000163875 |
| UniProt ID | Q16594 |
| OMIM ID | 600822 |
| HGNC ID | 11542 |
| Aliases | TAFII31, TAF2G, TAFII-31, MGC:5067 |
Description
TAF9 (TATA-box binding protein associated factor 9) encodes a protein that is one of several TATA-binding protein (TBP)-associated factors (TAFs) that together with TBP constitute the TFIID transcription initiation complex. TAF9 is essential for RNA polymerase II transcription initiation and also participates in DNA repair and cell cycle regulation. The gene is located on chromosome 5q13.2 and is widely expressed in human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and structural brain anomalies | Biallelic loss-of-function mutations in TAF9 impair TFIID complex assembly, reducing transcription of genes critical for neurogenesis. | ClinVar; PMID: 31474318 |
| Colorectal cancer | Somatic missense mutations in TAF9 may alter transcription of tumor suppressor genes or oncogenes. | COSMIC; PMID: 22810696 |
| Lung adenocarcinoma | TAF9 overexpression correlates with poor prognosis; potential role in transcriptional dysregulation. | NCBI Gene; PMID: 31586073 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Testis | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical carcinoma cell line |
| HEK293 | 11.8 | Embryonic kidney cells |
| A549 | 9.5 | Lung carcinoma cell line |
| K562 | 7.3 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; predicted loss of protein function |
| c.287G>A (p.Arg96Gln) | Missense | 0.01% (gnomAD) | May disrupt TFIID interaction; uncertain significance |
| c.502C>T (p.Arg168Trp) | Missense | Somatic (COSMIC) | Found in colorectal cancer; potential gain-of-function |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function variants (e.g., start-loss, frameshift) cause neurodevelopmental disorder with microcephaly.
Gain of Function (GOF)
Somatic missense mutations (e.g., p.Arg168Trp) in cancer may enhance transcription of proliferative genes.
Dominant Negative (DN)
Not well documented; some missense variants may interfere with TFIID assembly.
View complete mutation data：
Gene Ontology (GO)
| • TFIID complex (GO:0005669) | • DNA-templated transcription initiation (GO:0006352) |
| • zinc ion binding (GO:0008270) | • DNA repair (GO:0006281) |
| • nucleus (GO:0005634) |
Pathways
• Transcription initiation by RNA polymerase II (Reactome R-HSA-75953)
• TFIID complex assembly (Reactome R-HSA-6804757)
• p53-independent DNA damage response (KEGG hsa04115)
Protein Summary
TAF9 is a 264-amino-acid protein (UniProt Q16594) containing a histone-fold domain that mediates heterodimerization with TAF6 within the TFIID complex. It binds DNA and facilitates promoter recognition. The protein is ubiquitously expressed and shuttles between nucleus and cytoplasm. Post-translational modifications include phosphorylation and acetylation, which modulate its transcriptional activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAF9B Knockout HEK293 Cell Line | EDJ-KQ11158 | Human | 51616 | Details Get a Quote |
| TAF9B Knockout A-549 Cell Line | EDJ-KQ39169 | Human | 51616 | Details Get a Quote |
| TAF9B Knockout HeLa Cell Line | EDJ-KQ39170 | Human | 51616 | Details Get a Quote |
| TAF9B Knockout HCT 116 Cell Line | EDJ-KQ37854 | Human | 51616 | Details Get a Quote |
| TAF9 Knockout HEK293 Cell Line | EDJ-KQ50672 | Human | 6880 | Details Get a Quote |
| TAF9 Knockout HeLa Cell Line | EDJ-KQ54610 | Human | 6880 | Details Get a Quote |
| TAF9 Knockout A-549 Cell Line | EDJ-KQ63091 | Human | 6880 | Details Get a Quote |
| TAF9 Knockout HCT 116 Cell Line | EDJ-KQ71563 | Human | 6880 | Details Get a Quote |
