Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7026
Gene name Gene Name - the full gene name approved by the HGNC.
Nuclear receptor subfamily 2 group F member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NR2F2
Synonyms (NCBI Gene) Gene synonyms aliases
ARP-1, ARP1, CHTD4, COUPTF2, COUPTFB, COUPTFII, NF-E3, SRXX5, SVP40, TFCOUP2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CHTD4, SRXX5
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q26.2
Summary Summary 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
SNPs SNP 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
miRNA miRNA 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 IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
107773 7976 ENSG00000185551
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
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name 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
View all (13 more)
24702954
Double outlet right ventricle Double Outlet Right Ventricle rs397514520, rs397514521
Hypoplastic left heart syndrome Hypoplastic Left Heart Syndrome rs1554284604, rs1843006535
Unknown
Disease term Disease name Evidence References Source
Endometriosis Endometriosis 22138541 ClinVar
46, XX Gonadal Sex Reversal 46,xx sex reversal 5 GenCC
Hypertension Hypertension GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Allergic Fungal Sinusitis Associate 29115522
Alternating hemiplegia of childhood Associate 31633027
Atherosclerosis Associate 30529831, 37039367
Blepharophimosis Ptosis and Epicanthus Inversus Associate 29478779
Breast Neoplasms Associate 19154418, 20386594, 23292282, 24141032, 24513177, 32168782, 32631390
Carcinoma Hepatocellular Associate 36011369
Carcinoma Non Small Cell Lung Associate 30592135
Cardiovascular Abnormalities Associate 37039367
Cardiovascular Diseases Associate 37039367
Colorectal Neoplasms Associate 34070923