NR2F2 (COUP-TFII): Nuclear Receptor in Development, Metabolism, and Cancer
Explore the NR2F2 gene, its protein product COUP-TFII, chromosomal location, expression patterns, associated diseases, and functional roles in gene regulation.
Gene Information Card
| Symbol | NR2F2 |
|---|---|
| Full Name | Nuclear Receptor Subfamily 2 Group F Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q26.2 |
| NCBI Gene ID | 7026 ncbi.nlm.nih.gov/gene/7026 |
| Ensembl ID | ENSG00000185551 |
| UniProt ID | P24468 |
| OMIM ID | 107773 |
| HGNC ID | 7976 |
| Aliases | COUP-TFII, COUPTF2, ARP1, TFCOUP2, SVP40 |
Description
NR2F2 encodes chicken ovalbumin upstream promoter transcription factor II (COUP-TFII), an orphan nuclear receptor that regulates gene expression in development, metabolism, and cancer. It binds to direct repeats of hormone response elements and modulates transcriptional activity of many target genes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital heart defects | NR2F2 haploinsufficiency disrupts cardiac development | ClinVar, OMIM |
| Endometriosis | Altered NR2F2 expression in endometrial tissue | PubMed (via OMIM) |
| Prostate cancer | NR2F2 promotes tumor progression and androgen receptor signaling | COSMIC, PubMed |
| Breast cancer | NR2F2 regulates estrogen receptor signaling and metastasis | COSMIC, PubMed |
| Glaucoma | Potential association with NR2F2 variants | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Liver | 8.5 | Low |
| Kidney | 15.2 | Medium |
| Lung | 10.1 | Low |
| Brain | 6.4 | Low |
| Testis | 20.7 | High |
| Uterus | 18.9 | High |
| Prostate | 14.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 22.3 | Cervical cancer cell line |
| MCF7 | 18.7 | Breast cancer cell line |
| A549 | 12.4 | Lung cancer cell line |
| HepG2 | 9.8 | Liver cancer cell line |
| K562 | 5.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.449G>A (p.Arg150His) | Missense | Rare | Loss of DNA binding |
| c.742C>T (p.Arg248Trp) | Missense | Rare | Altered transcriptional activity |
| c.1045_1046del (p.Leu349fs) | Frameshift | Very rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair DNA binding or dimerization reduce transcriptional activity, leading to haploinsufficiency in developmental disorders.
Gain of Function (GOF)
Amplification or overexpression of NR2F2 in cancers enhances oncogenic signaling.
Dominant Negative (DN)
Certain missense mutations may interfere with wild-type protein function, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • Nuclear receptor activity | • Zinc ion binding |
| • Sequence-specific DNA binding | • Transcription coregulator activity |
Pathways
• Nuclear receptor transcription pathway
• Retinoic acid receptor signaling
• Steroid hormone receptor signaling
• Developmental biology
Protein Summary
COUP-TFII is a 414-amino acid protein with a conserved DNA-binding domain and ligand-binding domain. It functions as a transcriptional repressor or activator depending on context, regulating genes involved in organogenesis, metabolism, and tumor progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NR2F2 Knockout HEK293 Cell Line | EDJ-KQ2189 | Human | 7026 | Details Get a Quote |
| NR2F2 Knockout HCT 116 Cell Line | EDJ-KQ21110 | Human | 7026 | Details Get a Quote |
| NR2F2 Knockout A-549 Cell Line | EDJ-KQ22417 | Human | 7026 | Details Get a Quote |
| NR2F2 Knockout HeLa Cell Line | EDJ-KQ22419 | Human | 7026 | Details Get a Quote |
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