TFAP2B Gene Summary [Human]

This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
TFAP2B
Official Name
transcription factor AP-2 beta [Source:HGNC Symbol;Acc:HGNC:11743]
Ensembl ID
ENSG00000008196
Bio databases IDs NCBI: 7021 Ensembl: ENSG00000008196
Aliases transcription factor AP-2 beta
Synonyms AP-2B, AP-2beta, AP-2(beta), AP-2(β), AP2-β, E130018K07Rik, PDA2, TCFAP2B, transcription factor AP-2 beta, transcription factor AP-2 β
Species
Human, Homo sapiens
OrthologiesMouseRat

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 TFAP2B 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
  • nucleic acid binding
  • Transcription factor AP-2
  • chromatin binding
  • protein binding
  • sequence-specific DNA binding
  • DNA binding
  • RNA polymerase II transcription factor activity, sequence-specific DNA binding
  • double-stranded DNA binding
  • protein homodimerization
  • transcription factor activity
  • protein heterodimerization

Pathways

Biological processes and signaling networks where the TFAP2B 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
  • open-angle glaucoma
  • hereditary disorder
  • bladder cancer
  • Char syndrome
  • overall survival
  • craniosynostosis
  • non-insulin-dependent diabetes mellitus
  • growth failure
  • obesity
  • patent ductus arteriosus 2
regulated by
regulates
role in cell
  • growth
  • accumulation in
  • binding in
  • invasion by
  • phosphorylation in
  • expression in
  • transactivation in
  • migration
  • proliferation
  • differentiation

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
  • cytosol
  • nucleoplasm
  • chromatin

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human TFAP2B gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of cell proliferation
  • positive regulation of cell proliferation
  • anatomical structure development
  • ductus arteriosus closure
  • transcription from RNA polymerase II promoter
  • fat cell differentiation
  • response to xenobiotic stimulus
  • positive regulation of transcription from RNA polymerase II promoter
  • glucose metabolic process
  • skin development
  • positive regulation of neuron apoptotic process
  • negative regulation of neuron apoptotic process
  • collecting duct development
  • negative regulation of transcription from RNA polymerase II promoter
  • sympathetic nervous system development
  • regulation of insulin secretion
  • regulation of cell differentiation
  • negative regulation of transcription, DNA-dependent
  • kidney development
  • positive regulation of transcription, DNA-dependent
  • forelimb morphogenesis
  • hindlimb morphogenesis
  • neuron apoptotic process
  • smooth muscle tissue development
  • regulation of cell proliferation
  • regulation of transcription from RNA polymerase II promoter
  • aorta morphogenesis
  • negative regulation of apoptotic process
  • metanephric nephron development
  • retina layer formation
  • distal tubule development
  • regulation of BMP signaling pathway

Cellular Component

Where in the cell the gene product is active
  • nucleus
  • chromatin
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • protein homodimerization activity
  • RNA polymerase II core promoter proximal region sequence-specific DNA binding
  • RNA polymerase II regulatory region sequence-specific DNA binding
  • core promoter proximal region sequence-specific DNA binding
  • RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
  • sequence-specific DNA binding
  • chromatin binding
  • sequence-specific DNA binding RNA polymerase II transcription factor activity
  • DNA binding
  • sequence-specific DNA binding transcription factor activity
  • protein binding
  • protein heterodimerization activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.