TFAP4 Gene - Transcription Factor AP-4
Basic helix-loop-helix transcription factor involved in cell proliferation, differentiation, and cancer
Gene Information Card
| Symbol | TFAP4 |
|---|---|
| Full Name | Transcription Factor AP-4 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 7023 ncbi.nlm.nih.gov/gene/7023 |
| Ensembl ID | ENSG00000100033 |
| UniProt ID | Q01664 |
| OMIM ID | 600743 |
| HGNC ID | 11744 |
| Aliases | AP-4, bHLHc41, SEF2-1B, SEF2-1B1 |
Description
TFAP4 (Transcription Factor AP-4) encodes a basic helix-loop-helix (bHLH) transcription factor that binds to the E-box motif (5'-CAGCTG-3') and regulates genes involved in cell proliferation, differentiation, and apoptosis. It is widely expressed and plays roles in neurodevelopment, immune function, and cancer progression. TFAP4 can act as both an oncogene and a tumor suppressor depending on cellular context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | TFAP4 overexpression promotes Wnt/β-catenin signaling and cell proliferation | PMID: 25605248 |
| Breast cancer | TFAP4 regulates epithelial-mesenchymal transition (EMT) and metastasis | PMID: 27323850 |
| Gastric cancer | TFAP4 upregulation correlates with poor prognosis and invasion | PMID: 28397828 |
| Neuroblastoma | TFAP4 expression associated with MYCN amplification and tumor progression | PMID: 21575862 |
| Hepatocellular carcinoma | TFAP4 promotes cell cycle progression via cyclin D1 | PMID: 29323341 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Colon | 15.3 | Medium |
| Breast | 8.7 | Low |
| Liver | 6.2 | Low |
| Lung | 10.1 | Medium |
| Stomach | 14.0 | Medium |
| Kidney | 9.4 | Low |
| Testis | 18.6 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.3 | Embryonic kidney, high expression |
| HeLa | 16.8 | Cervical carcinoma, moderate expression |
| HCT116 | 25.1 | Colorectal carcinoma, high expression |
| MCF7 | 11.4 | Breast carcinoma, moderate expression |
| A549 | 9.7 | Lung carcinoma, low expression |
| SH-SY5Y | 14.2 | Neuroblastoma, moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | 0.02% (COSMIC) | Altered DNA-binding affinity |
| c.632G>A (p.Arg211Gln) | Missense | 0.01% (COSMIC) | Unknown functional impact |
| c.1003_1004insA (p.Thr335Asnfs*12) | Frameshift | 0.005% (COSMIC) | Loss of function |
| c.1A>G (p.Met1Val) | Start loss | 0.003% (ClinVar) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and start-loss mutations (e.g., p.Thr335Asnfs*12, p.Met1Val) result in truncated or absent protein, reducing transcriptional activity.
Gain of Function (GOF)
Missense mutations in the bHLH domain (e.g., p.Arg163Trp) may enhance DNA binding or dimerization, potentially increasing oncogenic signaling.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported; some missense variants may interfere with wild-type TFAP4 dimerization.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• Transcriptional regulation by bHLH factors (Reactome: R-HSA-9616222)
• p53 pathway (Reactome: R-HSA-5633007)
• Cell cycle (Reactome: R-HSA-1640170)
Protein Summary
TFAP4 encodes a 340-amino acid basic helix-loop-helix (bHLH) transcription factor that forms homodimers or heterodimers with other bHLH proteins. It binds E-box sequences (5'-CAGCTG-3') to regulate target genes involved in cell cycle control, differentiation, and apoptosis. The protein contains a bHLH domain (residues 155-207) and a leucine zipper motif. Post-translational modifications include phosphorylation and ubiquitination, which modulate its stability and activity. TFAP4 is implicated in several cancers, where it can promote proliferation or suppress apoptosis depending on cellular context.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TFAP4 Knockout HEK293 Cell Line | EDJ-KQ15710 | Human | 7023 | Details Get a Quote |
| TFAP4 Knockout A-549 Cell Line | EDJ-KQ46615 | Human | 7023 | Details Get a Quote |
| TFAP4 Knockout HCT 116 Cell Line | EDJ-KQ46616 | Human | 7023 | Details Get a Quote |
| TFAP4 Knockout HeLa Cell Line | EDJ-KQ46617 | Human | 7023 | Details Get a Quote |
