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NR2F2 (nuclear receptor subfamily 2 group F member 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7026
Gene nameGene Name - the full gene name approved by the HGNC.
Nuclear receptor subfamily 2 group F member 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
NR2F2
SynonymsGene synonyms aliases
ARP-1, ARP1, CHTD4, COUPTF2, COUPTFB, COUPTFII, NF-E3, SRXX5, SVP40, TFCOUP2
ChromosomeChromosome number
15
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q26.2
SummarySummary of gene provided in NCBI Entrez Gene.
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 t
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587777371 C>A Pathogenic Coding sequence variant, missense variant
rs587777372 A>T Pathogenic Coding sequence variant, missense variant
rs587777374 G>A Pathogenic Splice donor variant
rs886041730 ->G Pathogenic Frameshift variant, coding sequence variant
rs1555447237 T>C Likely-pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006555 hsa-miR-302a-3p Luciferase reporter assay, qRT-PCR, Western blot 21151097
MIRT006555 hsa-miR-302a-3p Luciferase reporter assay, qRT-PCR, Western blot 21151097
MIRT006555 hsa-miR-302a-3p Luciferase reporter assay, qRT-PCR, Western blot 21151097
MIRT027270 hsa-miR-101-3p Sequencing 20371350
MIRT037296 hsa-miR-877-5p CLASH 23622248
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 9343308
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0001764 Process Neuron migration IEA
GO:0001893 Process Maternal placenta development IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P24468
Protein name COUP transcription factor 2 (COUP-TF2) (Apolipoprotein A-I regulatory protein 1) (ARP-1) (COUP transcription factor II) (COUP-TF II) (Nuclear receptor subfamily 2 group F member 2)
Protein 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. B
PDB 3CJW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00105 zf-C4
77 146
Zinc finger, C4 type (two domains)
Domain
PF00104 Hormone_recep
197 387
Ligand-binding domain of nuclear hormone receptor
Domain
Sequence
Sequence length 414
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Bicuspid aortic valve Bicuspid aortic valve rs1569484234, rs1569484208
Congenital heart defects CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049 24702954
Double outlet right ventricle Double Outlet Right Ventricle rs397514520, rs397514521
Hypoplastic left heart syndrome Hypoplastic Left Heart Syndrome rs1554284604, rs1843006535
Unknown
Disease name Disease term dbSNP ID References
Aortic coarctation Aortic coarctation
Aortic valve sclerosis Aortic Valve Stenosis
Complete atrioventricular septal defect with ventricular hypoplasia Complete atrioventricular septal defect with ventricular hypoplasia
Complete atrioventricular septal defect-tetralogy of fallot Complete atrioventricular septal defect-tetralogy of Fallot

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