NR2F2 Chromosome 15
Nuclear receptor subfamily 2 group F member 2
Upload your DNA to see your personal genotypes for variants in NR2F2.
What This Gene Does
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]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Nuclear receptor subfamily 2 group F"
Locus Type
gene with protein product
Location
15q26.2
Ensembl
ENSG00000185551
Associated Conditions (10)
Congenital heart defects
multiple types
4
NR2F2-related disorder
Inborn genetic diseases
46
XY disorder of sex development
NR2F2 associated disorders
xx sex reversal 5
Asplenia
Key Variants
RS1567138573
Conflicting classifications of pathogenicity
Congenital heart defects, multiple types, 4
Health Risk
RS201527820
Conflicting classifications of pathogenicity
Congenital heart defects, multiple types, 4
Health Risk
RS1555446983
Likely pathogenic
Congenital heart defects, multiple types, 4
Health Risk
RS1555447237
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2141169336
Likely pathogenic
46, XY disorder of sex development, 46
Health Risk
RS2505769438
Likely pathogenic
NR2F2 associated disorders, NR2F2 associated disorders
Health Risk
RS2505774176
Likely pathogenic
Congenital heart defects, multiple types, 4
Health Risk
RS2505774507
Likely pathogenic
Congenital heart defects, multiple types, 4
Health Risk
RS2505775271
Likely pathogenic
Health Risk
RS2505779992
Likely pathogenic
Congenital heart defects, multiple types, 4
Health Risk
RS2505780251
Likely pathogenic
NR2F2 associated disorders, NR2F2 associated disorders
Health Risk
RS2505780323
Likely pathogenic
46, xx sex reversal 5, 46
Health Risk
All Variants (27)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1567138573 | Health Risk | Conflicting classifications of pathogenicity | Congenital heart defects, multiple types, 4 |
| RS201527820 | Health Risk | Conflicting classifications of pathogenicity | Congenital heart defects, multiple types, 4 |
| RS1555446983 | Health Risk | Likely pathogenic | Congenital heart defects, multiple types, 4 |
| RS1555447237 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2141169336 | Health Risk | Likely pathogenic | 46, XY disorder of sex development, 46 |
| RS2505769438 | Health Risk | Likely pathogenic | NR2F2 associated disorders, NR2F2 associated disorders |
| RS2505774176 | Health Risk | Likely pathogenic | Congenital heart defects, multiple types, 4 |
| RS2505774507 | Health Risk | Likely pathogenic | Congenital heart defects, multiple types, 4 |
| RS2505775271 | Health Risk | Likely pathogenic | — |
| RS2505779992 | Health Risk | Likely pathogenic | Congenital heart defects, multiple types, 4 |
| RS2505780251 | Health Risk | Likely pathogenic | NR2F2 associated disorders, NR2F2 associated disorders |
| RS2505780323 | Health Risk | Likely pathogenic | 46, xx sex reversal 5, 46 |
| RS1555446980 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555447012 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 4 |
| RS1555447465 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1596432295 | Health Risk | Pathogenic | — |
| RS1899167019 | Health Risk | Pathogenic | 46, xx sex reversal 5, Congenital heart defects |
| RS1899172049 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 4 |
| RS2141169116 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 4 |
| RS2505770216 | Health Risk | Pathogenic | — |
| RS2505774216 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 4 |
| RS2505774793 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS587777372 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 4 |
| RS587777374 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 4 |
| RS886041730 | Health Risk | Pathogenic | Congenital heart defects, multiple types, 4 |
| RS1899167400 | Health Risk | Pathogenic/Likely pathogenic | 46, xx sex reversal 5, 46 |
| RS587777371 | Health Risk | Pathogenic/Likely pathogenic | Congenital heart defects, multiple types, 4 |