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
Disease
CHD Phenotype
- Atrial septal defect
- Atrioventricular 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.
- Variant types are single nucleotide variant or Indel
- Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
- ClinVar review status for the variant is criteria provided
Download annotation file for NR2F2: BED file
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Selected References
- 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
- 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. Portico. https://doi.org/10.1002/ajmg.a.37830 DOI:10.1002/ajmg.a.37830 PMID:27363585