NR2F2
Function
Ligand-activated transcription factor. Activated by high concentrations of 9-cis-retinoic acid and all-trans-retinoic acid, but not by dexamethasone, cortisol or progesterone (in vitro). Regulation of the apolipoprotein A-I gene transcription. Binds to DNA site A. May be required to establish ovary identity during early gonad development (PubMed:29478779).
Involvement in disease
Congenital heart defects, multiple types, 4
CHTD4
A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. Some patients also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions.
None
The disease is caused by variants affecting the gene represented in this entry.
46,XX sex reversal 5
SRXX5
A condition in which male gonads develop in a genetic female (female to male sex reversal). Additional features in SRXX5 patients are congenital heart disease, congenital diaphragmatic hernia, and blepharophimosis-ptosis-epicanthus inversus syndrome. SRXX5 inheritance is autosomal dominant.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the nuclear hormone receptor family. NR2 subfamily.
Tissue Specificity
Ubiquitous. Expressed in the stromal cells of developing fetal ovaries (PubMed:29478779).
Cellular localization
- Nucleus
Alternative names
ARP1, TFCOUP2, NR2F2, COUP transcription factor 2, COUP-TF2, Apolipoprotein A-I regulatory protein 1, COUP transcription factor II, Nuclear receptor subfamily 2 group F member 2, ARP-1, COUP-TF II