NR2F2 nuclear receptor subfamily 2 group F member 2

Gene info

Synonyms

COUP transcription factor II

Previous symbol

ARP1|TFCOUP2

External ID

HGNC: 7976
Entrez Gene: 7026
Ensembl: ENSG00000185551
UCSC: uc010uri.3
OMIM: 107773
UniProtKB: P24468

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Atrioventricular septal defect

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

MGI: Homozygous knockout mouse has CHD

MGI ID

1352452

Variant info

Clinvar

NR2F2

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

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Selected References

  1. Al Turki, S., Manickaraj, A. K., Mercer, C. L., Gerety, S. S., Hitz, M.-P., Lindsay, S., D’Alessandro, L. C. A., Swaminathan, G. J., Bentham, J., Arndt, A.-K., Louw, J., Breckpot, J., Gewillig, M., Thienpont, B., Abdul-Khaliq, H., Harnack, C., Hoff, K., Kramer, H.-H., Schubert, S., … Hurles, M. E. (2014). Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans. The American Journal of Human Genetics, 94(4), 574–585. https://doi.org/10.1016/j.ajhg.2014.03.007 DOI:10.1016/j.ajhg.2014.03.007 PMID:24702954
  2. High, F. A., Bhayani, P., Wilson, J. M., Bult, C. J., Donahoe, P. K., & Longoni, M. (2016). De novo frameshift mutation in COUP‐TFII (NR2F2) in human congenital diaphragmatic hernia. American Journal of Medical Genetics Part A, 170(9), 2457–2461. Portico. https://doi.org/10.1002/ajmg.a.37830 DOI:10.1002/ajmg.a.37830 PMID:27363585