Gene Gene information from NCBI Gene database.
Entrez ID 7026
Gene name Nuclear receptor subfamily 2 group F member 2
Gene symbol NR2F2
Synonyms (NCBI Gene)
ARP-1ARP1CHTD4COUPTF2COUPTFBCOUPTFIINF-E3SRXX5SVP40TFCOUP2
Chromosome 15
Chromosome location 15q26.2
Summary 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
SNPs SNP information provided by dbSNP.
7
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
miRNA miRNA information provided by mirtarbase database.
343
miRTarBase ID miRNA Experiments Reference
MIRT006555 hsa-miR-302a-3p Luciferase reporter assayqRT-PCRWestern blot 21151097
MIRT006555 hsa-miR-302a-3p Luciferase reporter assayqRT-PCRWestern blot 21151097
MIRT006555 hsa-miR-302a-3p Luciferase reporter assayqRT-PCRWestern blot 21151097
MIRT027270 hsa-miR-101-3p Sequencing 20371350
MIRT037296 hsa-miR-877-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 9343308, 19210544
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IMP 19210544
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
107773 7976 ENSG00000185551
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Expressed in the stromal cells of developing fetal ovaries (PubMed:29478779). {ECO:0000269|PubMed:29478779}.
Sequence
Sequence length 414
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
46,xx sex reversal 5 Likely pathogenic; Pathogenic rs2505780323, rs1899167019, rs1899167400 RCV003985956
RCV001171517
RCV001171518
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
46,XY disorder of sex development Likely pathogenic rs2141169336 RCV003482199
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Asplenia Likely pathogenic; Pathogenic rs587777371 RCV001729389
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital heart defects, multiple types, 4 Likely pathogenic; Pathogenic rs587777371, rs587777372, rs587777374, rs2141169116, rs2505774176, rs2505779992, rs886041730, rs2505774216, rs2505774507, rs1555447012, rs1555446983, rs1899172049, rs1899167019 RCV000116199
RCV000116200
RCV000116202
RCV001994474
RCV002472028
View all (8 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COMPLETE ATRIOVENTRICULAR CANAL DEFECT WITH VENTRICULAR HYPOPLASIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLETE ATRIOVENTRICULAR SEPTAL DEFECT WITH TETRALOGY OF FALLOT Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLETE ATRIOVENTRICULAR SEPTAL DEFECT WITH VENTRICULAR HYPOPLASIA Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLETE ATRIOVENTRICULAR SEPTAL DEFECT-TETRALOGY OF FALLOT Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 9539779
★☆☆☆☆
Found in Text Mining only
Albinism, Oculocutaneous Oculocutaneous albinism BEFREE 17931990
★☆☆☆☆
Found in Text Mining only
Alternating hemiplegia of childhood Alternating hemiplegia of childhood Pubtator 31633027 Associate
★☆☆☆☆
Found in Text Mining only
Aortic coarctation Aortic Coarctation HPO_DG
★☆☆☆☆
Found in Text Mining only
Aortic Valve Stenosis Aortic Valve Sclerosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 21069739, 30529831
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 30929126
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 21069739, 30529831
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 30529831, 37039367 Associate
★☆☆☆☆
Found in Text Mining only
Bicuspid aortic valve Bicuspid aortic valve BEFREE 30720060
★☆☆☆☆
Found in Text Mining only