TFAP2C Gene Summary [Human]
The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TFAP2C |
| Official Name | transcription factor AP-2 gamma [Source:HGNC Symbol;Acc:HGNC:11744] |
| Ensembl ID | ENSG00000087510 |
| Bio databases IDs | |
| Aliases | transcription factor AP-2 gamma, estrogen receptor factor 1 |
| Synonyms | AP-2, Ap-2.2, AP2-GAMMA, AP2-γ, AP-gamma, AP-γ, ERF1, hAP-2g, STRA2, Tcfap2c, TFAP2G, transcription factor AP-2 gamma, transcription factor AP-2, gamma, transcription factor AP-2 γ, transcription factor AP-2, γ, Transcription factor ap-2 γ (activating enhancer-binding protein γ) |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TFAP2C often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- transcription regulator
- dimerization domain
- DNA binding domain
- nucleic acid binding
- Transcription factor AP-2
- transcription activation domain
- protein binding
- sequence-specific DNA binding
- proline rich domain
- DNA binding
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- helix-loop-helix domain
- transcription factor activity
Pathways
Biological processes and signaling networks where the TFAP2C gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- preeclampsia
- tumorigenesis
- organismal death
- osteoarthritis
- bladder cancer
- growth failure
- gastrulation failure
- Hutchinson-Gilford progeria syndrome
- uterine leiomyoma
- leiomyomatosis
role in cell
- expression in
- apoptosis
- migration
- quantity
- proliferation
- activation in
- invasion by
- cell cycle progression
- growth
- cell viability
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- Mitochondria
- cytosol
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TFAP2C gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- negative regulation of gene expression, epigenetic
- male gonad development
- cell-cell signaling
- anatomical structure development
- positive regulation of transcription from RNA polymerase II promoter
- regulation of cell proliferation
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrion
- cytosol
- chromatin
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- DNA binding
- sequence-specific DNA binding transcription factor activity
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity