NR2F2

This gene encodes a member of the steroid thyroid hormone superfamily of nuclear receptors. The encoded protein is a ligand inducible transcription factor that is involved in the regulation of many different genes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

Full Name

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).

Biological Process

Anatomical structure developmentManual Assertion Based On ExperimentIBA:GO_Central
Anterior/posterior pattern specificationIEA:Ensembl
Blood vessel morphogenesisIEA:Ensembl
Cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Female gonad developmentManual Assertion Based On ExperimentIMP:UniProtKB
FertilizationIEA:Ensembl
Forebrain developmentIEA:Ensembl
Limb developmentIEA:Ensembl
Lymphatic endothelial cell fate commitmentManual Assertion Based On ExperimentIMP:BHF-UCL
Maternal placenta developmentIEA:Ensembl
Negative regulation of cyclin-dependent protein serine/threonine kinase activityManual Assertion Based On ExperimentIDA:BHF-UCL
Negative regulation of endothelial cell migrationManual Assertion Based On ExperimentIMP:BHF-UCL
Negative regulation of endothelial cell proliferationManual Assertion Based On ExperimentIMP:BHF-UCL
Negative regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:UniProtKB
Negative regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:BHF-UCL
Neuron migrationIEA:Ensembl
Placenta blood vessel developmentIEA:Ensembl
Positive regulation of systemic arterial blood pressureIEA:Ensembl
Positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIMP:BHF-UCL
Positive regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIDA:UniProtKB
Radial pattern formationIEA:Ensembl
Regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIBA:GO_Central
Response to estradiolIEA:Ensembl
Skeletal muscle tissue developmentIEA:Ensembl
Trophoblast giant cell differentiationIEA:Ensembl

Cellular Location

Nucleus

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.
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.