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
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
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 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital heart defects congenital heart defects, multiple types, 4 rs1899172049, rs587777371, rs587777372, rs587777374, rs886041730, rs1555447012, rs1555446983 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
46, XX Gonadal Sex Reversal 46,xx sex reversal 5 N/A N/A GenCC
Diabetes Type 2 diabetes N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Hypogonadism Hypogonadism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
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