TFAP2B transcription factor AP-2 beta

Gene info



Previous symbol


External ID

HGNC: 11743
Entrez Gene: 7021
Ensembl: ENSG00000008196
UCSC: uc003pag.4
OMIM: 601601
UniProtKB: Q92481

Disease info


CHD Phenotype

  • Patent ductus arteriosus
  • Tetralogy of fallot
  • Truncus arteriosus

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: Mice heterozygous or homozygous for a null allele have CHD


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for TFAP2B: BED file

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Selected References

  1. Satoda, M., Zhao, F., Diaz, G. A., Burn, J., Goodship, J., Davidson, H. R., Pierpont, M. E. M., & Gelb, B. D. (2000). Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nature Genetics, 25(1), 42–46. DOI:10.1038/75578 PMID:10802654
  2. Chen, I.-H., Wang, H.-H., Hsieh, Y.-S., Huang, W.-C., Yeh, H.-I., & Chuang, Y.-J. (2012). PRSS23 is essential for the Snail-dependent endothelial-to-mesenchymal transition during valvulogenesis in zebrafish. Cardiovascular Research, 97(3), 443–453. DOI:10.1093/cvr/cvs355 PMID:23213106
  3. Khetyar, M., Syrris, P., Tinworth, L., Abushaban, L., & Carter, N. (2008). NovelTFAP2BMutation in Nonsyndromic Patent Ductus Arteriosus. Genetic Testing, 12(3), 457–459. DOI:10.1089/gte.2008.0015 PMID:18752453
  4. Davidson, H. R. (1993). A large family with patent ductus arteriosus and unusual face. Journal of Medical Genetics, 30(6), 503–505. DOI:10.1136/jmg.30.6.503 PMID:8326495