TAF4: TATA-Box Binding Protein Associated Factor 4
A core component of the TFIID complex, essential for RNA polymerase II transcription initiation and implicated in neurodevelopmental disorders and cancer.
Gene Information Card
| Symbol | TAF4 |
|---|---|
| Full Name | TATA-Box Binding Protein Associated Factor 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 6874 ncbi.nlm.nih.gov/gene/6874 |
| Ensembl ID | ENSG00000130699 |
| UniProt ID | O00268 |
| OMIM ID | 601796 |
| HGNC ID | 11538 |
| Aliases | TAF2C, TAFII130, TAFII135, TAF4A |
Description
TAF4 encodes a component of the transcription factor IID (TFIID) complex, which is required for RNA polymerase II-mediated transcription initiation. TAF4 interacts with the TATA-box binding protein (TBP) and other TAFs to form the core TFIID complex, facilitating promoter recognition and transcription activation. The protein contains a histone-fold domain that mediates dimerization with TAF12 and is involved in cell cycle regulation and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and intellectual disability | Loss-of-function mutations in TAF4 impair TFIID assembly, leading to reduced transcription of genes critical for neuronal development. | ClinVar, OMIM |
| Colorectal cancer | TAF4 overexpression or amplification contributes to aberrant transcriptional activation of oncogenic pathways. | COSMIC, NCBI |
| Breast cancer | Altered TAF4 expression correlates with poor prognosis and may influence estrogen receptor signaling. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Brain (cerebellum) | 18.7 | Medium |
| Heart | 15.2 | Medium |
| Liver | 12.1 | Medium |
| Lung | 10.5 | Medium |
| Kidney | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.4 | Embryonic kidney cells, high expression |
| HeLa | 19.1 | Cervical carcinoma cells, medium-high |
| K562 | 14.6 | Leukemia cells, medium |
| HepG2 | 11.3 | Hepatocellular carcinoma cells, medium |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; truncation of the histone-fold domain |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function; premature termination |
| c.2101G>A (p.Gly701Arg) | Missense | Unknown | Potential dominant-negative effect; disrupts TAF12 interaction |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay, impairing TFIID complex formation.
Gain of Function (GOF)
Not well characterized; amplification in some cancers may lead to increased transcriptional activity.
Dominant Negative (DN)
Missense mutations in the histone-fold domain may disrupt dimerization with TAF12, interfering with wild-type function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Transcription initiation by RNA polymerase II (Reactome: R-HSA-75953)
• TFIID assembly (Reactome: R-HSA-167162)
Protein Summary
TAF4 is a 1085-amino-acid protein (UniProt O00268) that functions as a core scaffold within the TFIID complex. It contains an N-terminal histone-fold domain (residues 1-80) required for heterodimerization with TAF12, and a C-terminal glutamine-rich region involved in transcriptional activation. Post-translational modifications include phosphorylation and acetylation, which modulate its activity and stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAF4B Knockout HEK293 Cell Line | EDJ-KQ5139 | Human | 6875 | Details Get a Quote |
| TAF4B Knockout A-549 Cell Line | EDJ-KQ29371 | Human | 6875 | Details Get a Quote |
| TAF4B Knockout HCT 116 Cell Line | EDJ-KQ29372 | Human | 6875 | Details Get a Quote |
| TAF4B Knockout HeLa Cell Line | EDJ-KQ29373 | Human | 6875 | Details Get a Quote |
