TFAP2B transcription factor AP-2 beta

Gene info

Synonyms

AP2-B

Previous symbol

None

External ID

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

Disease info

Disease

CHD Phenotype

  • Persistent ductus arteriosus

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Mice heterozygous or homozygous for a null allele have CHD

MGI ID

Variant info

Clinvar

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., … 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). Novel TFAP2B Mutation 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