NR2F2 nuclear receptor subfamily 2 group F member 2

Gene info

Synonyms

COUP-TFII, COUPTFB, SVP40, NF-E3, COUPTF2

Previous symbol

ARP1, TFCOUP2

External ID

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

Disease info

CHD Phenotype

  • Atrioventricular septal defect
  • Atrial septal defect

Extra Cardiac Phenotype

None

Incomplete penetrance

Unknown

Variable expressivity

Unknown

Animal model

Mouse study

Homozygous null mouse has 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 NR2F2: BED file

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Selected References

  1. Al Turki, S., Manickaraj, A. K., Mercer, C. L., Gerety, S. S., Hitz, M.-P., Lindsay, 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. 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 inCOUP-TFII(NR2F2) in human congenital diaphragmatic hernia. American Journal of Medical Genetics Part A, 170(9), 2457–2461. DOI:10.1002/ajmg.a.37830 PMID:27363585