Free for academic non-profit institutions. Other users need a Commercial license
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]
NR2F2 (Nuclear Receptor Subfamily 2 Group F Member 2) is a Protein Coding gene. Diseases associated with NR2F2 include Congenital Heart Defects, Multiple Types, 4 and 46,Xx Sex Reversal 5. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and FOXA1 transcription factor network. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NR2F1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001972 | retinoic acid binding | IBA,IDA | 18798693 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IBA,IDA | 9343308 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 19210544 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0042025 | host cell nucleus | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Oct4 in Mammalian ESC Pluripotency |
Oct4 in Mammalian ESC Pluripotency
-
|
|
2 | Developmental Biology | ||
3 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
4 | Ectoderm Differentiation | ||
5 | FOXA1 transcription factor network |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IBA,IDA | 9343308 |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0001764 | neuron migration | IEA | -- |
GO:0001893 | maternal placenta development | IEA | -- |
GO:0001937 | negative regulation of endothelial cell proliferation | IMP | 19210544 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||
SP2: | |||||||||||||
SP3: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NR2F2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NR2F2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NR2F2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Nr2f2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nr2f2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | NR2F2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NR2F2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NR2F2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NR2F2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nr2f2 30 |
|
||
Str.11156 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | nr2f2-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nr2f2 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002544 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | svp 30 32 |
|
||
dsf 32 |
|
|
|||
Hr51 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | unc-55 32 |
|
|
|
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.9339 30 |
|
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
640947 | Uncertain Significance: Congenital heart defects, multiple types, 4 | 96,332,309(+) | C/G | MISSENSE_VARIANT,INTRON_VARIANT | |
697865 | Likely Benign: Congenital heart defects, multiple types, 4 | 96,334,449(+) | C/G | SYNONYMOUS_VARIANT | |
733515 | Likely Benign: not provided | 96,337,385(+) | C/T | SYNONYMOUS_VARIANT | |
743789 | Likely Benign: Congenital heart defects, multiple types, 4 | 96,334,515(+) | C/T | SYNONYMOUS_VARIANT | |
794216 | Likely Benign: not provided | 96,334,591(+) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
congenital heart defects, multiple types, 4 |
|
|
46,xx sex reversal 5 |
|
|
complete atrioventricular septal defect-tetralogy of fallot |
|
|
complete atrioventricular septal defect with ventricular hypoplasia |
|
|
partial atrioventricular canal |
|
|