TFAP2B
Transcription Factor AP-2 Beta: A Key Regulator in Development and Disease
Gene Information Card
| Symbol | TFAP2B |
|---|---|
| Full Name | Transcription Factor AP-2 Beta |
| Gene Type | Protein coding |
| Chromosomal Location | 6p12.3 |
| NCBI Gene ID | 7021 ncbi.nlm.nih.gov/gene/7021 |
| Ensembl ID | ENSG00000137266 |
| UniProt ID | Q92481 |
| OMIM ID | 601601 |
| HGNC ID | 11743 |
| Aliases | AP-2B, AP2-B, TFAP2B |
Description
TFAP2B encodes transcription factor AP-2 beta, a member of the AP-2 family of sequence-specific DNA-binding proteins. It plays a critical role in regulating gene expression during embryonic development, particularly in neural crest cell differentiation, craniofacial development, and limb formation. The protein forms homo- or heterodimers with other AP-2 family members and binds to GC-rich regulatory elements in target gene promoters. Mutations in TFAP2B are associated with Char syndrome, an autosomal dominant disorder characterized by patent ductus arteriosus, facial dysmorphism, and hand anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Char syndrome | Heterozygous loss-of-function or dominant-negative mutations in TFAP2B disrupt neural crest cell development, leading to patent ductus arteriosus, facial dysmorphism, and hand anomalies. | OMIM #169100; ClinVar; multiple case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Lung | 8.3 | Low |
| Brain | 6.7 | Low |
| Kidney | 5.1 | Low |
| Skin | 4.9 | Low |
| Placenta | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cell line; moderate expression |
| HeLa | 8.9 | Cervical carcinoma; low expression |
| K562 | 4.3 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.715C>T (p.Arg239Cys) | Missense | Rare | Dominant-negative; associated with Char syndrome |
| c.866G>A (p.Arg289Gln) | Missense | Rare | Loss-of-function; linked to Char syndrome |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss-of-function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Mutations that truncate the protein or disrupt DNA-binding or dimerization domains reduce transcriptional activity.
Gain of Function (GOF)
Not reported for TFAP2B.
Dominant Negative (DN)
Missense mutations in the basic domain (e.g., p.Arg239Cys) produce a protein that interferes with wild-type AP-2 function, leading to Char syndrome.
View complete mutation data：
Gene Ontology (GO)
Pathways
• AP-2 transcription factor network
• Neural crest differentiation
• TGF-beta signaling pathway (indirect regulation)
Protein Summary
TFAP2B encodes a 460-amino acid transcription factor with a conserved helix-span-helix dimerization domain and a basic DNA-binding region. The protein localizes to the nucleus and regulates target genes involved in cell proliferation, differentiation, and apoptosis. It is essential for neural crest-derived tissue development, including cardiac outflow tract septation and craniofacial structures. Post-translational modifications such as phosphorylation modulate its activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TFAP2B Knockout HEK293 Cell Line | EDJ-KQ5918 | Human | 7021 | Details Get a Quote |
| TFAP2B Knockout HeLa Cell Line | EDJ-KQ54642 | Human | 7021 | Details Get a Quote |
| TFAP2B Knockout A-549 Cell Line | EDJ-KQ63123 | Human | 7021 | Details Get a Quote |
| TFAP2B Knockout HCT 116 Cell Line | EDJ-KQ71596 | Human | 7021 | Details Get a Quote |
