TFAP2B transcription factor AP-2 beta

Gene info

Disease info

Animal model

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

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. https://doi.org/10.1038/75578 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. https://doi.org/10.1093/cvr/cvs355 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. https://doi.org/10.1089/gte.2008.0015 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. https://doi.org/10.1136/jmg.30.6.503 DOI:10.1136/jmg.30.6.503 PMID:8326495