TFAP2C
Transcription Factor AP-2 Gamma: A Key Regulator in Development and Cancer
Gene Information Card
| Symbol | TFAP2C |
|---|---|
| Full Name | Transcription Factor AP-2 Gamma |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.31 |
| NCBI Gene ID | 7022 ncbi.nlm.nih.gov/gene/7022 |
| Ensembl ID | ENSG00000087510 |
| UniProt ID | Q92754 |
| OMIM ID | 601602 |
| HGNC ID | 11744 |
| Aliases | AP2-GAMMA, ERF1, TFAP2C, hAP-2g |
Description
TFAP2C encodes a member of the AP-2 family of transcription factors, which bind to a GC-rich DNA sequence and regulate gene expression in development, cell cycle, and apoptosis. It plays critical roles in mammary gland development, neural crest cell differentiation, and is implicated in breast cancer and other malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | TFAP2C overexpression or amplification drives luminal B subtype; regulates ESR1 and ERBB2 expression | PMID: 22955915; COSMIC |
| Melanoma | TFAP2C promotes invasion and metastasis via MITF regulation | PMID: 20010872 |
| Neuroblastoma | TFAP2C is required for sympathetic neuron differentiation; loss linked to aggressive disease | PMID: 15735664 |
| Ovarian cancer | TFAP2C expression correlates with poor prognosis and chemoresistance | PMID: 23429717 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Mammary gland | 12.5 | High |
| Skin | 8.3 | Medium |
| Brain | 6.1 | Medium |
| Ovary | 5.4 | Medium |
| Placenta | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.2 | High expression; ER+ luminal line |
| SK-MEL-28 (melanoma) | 9.8 | Moderate expression |
| SH-SY5Y (neuroblastoma) | 7.1 | Moderate expression |
| HeLa (cervical cancer) | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.1% in COSMIC | Likely loss of function; start codon loss |
| c.649C>T (p.Arg217Trp) | Missense | 0.2% in breast cancer | Altered DNA binding; reduced transcriptional activity |
| c.1024G>A (p.Glu342Lys) | Missense | 0.1% in melanoma | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations disrupting the DNA-binding domain or start codon reduce transcriptional activation of target genes.
Gain of Function (GOF)
Amplification or overexpression in breast cancer enhances ERBB2 and ESR1 transcription.
Dominant Negative (DN)
Truncating mutations in the dimerization domain may interfere with wild-type AP-2 factors.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • chromatin binding | • nucleus |
| • regulation of transcription by RNA polymerase II | • mammary gland development |
| • neural crest cell migration |
Pathways
• ERBB signaling pathway
• Estrogen signaling pathway
• p53 signaling pathway
• Melanogenesis
Protein Summary
TFAP2C (AP-2 gamma) is a 450-amino acid transcription factor with a central DNA-binding domain and a C-terminal dimerization domain. It forms homodimers or heterodimers with other AP-2 proteins and binds GC-rich elements to regulate genes involved in cell proliferation, differentiation, and apoptosis. It is essential for mammary gland development and is frequently overexpressed in luminal B breast cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TFAP2C Knockout HEK293 Cell Line | EDJ-KQ5919 | Human | 7022 | Details Get a Quote |
| TFAP2C Knockout A-549 Cell Line | EDJ-KQ28174 | Human | 7022 | Details Get a Quote |
| TFAP2C Knockout HCT 116 Cell Line | EDJ-KQ29452 | Human | 7022 | Details Get a Quote |
| TFAP2C Knockout HeLa Cell Line | EDJ-KQ54643 | Human | 7022 | Details Get a Quote |
