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    NR2F2 nuclear receptor subfamily 2 group F member 2 [ Homo sapiens (human) ]

    Gene ID: 7026, updated on 3-Nov-2024

    Summary

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    Official Symbol
    NR2F2provided by HGNC
    Official Full Name
    nuclear receptor subfamily 2 group F member 2provided by HGNC
    Primary source
    HGNC:HGNC:7976
    See related
    Ensembl:ENSG00000185551 MIM:107773; AllianceGenome:HGNC:7976
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ARP1; ARP-1; CHTD4; NF-E3; SRXX5; SVP40; COUPTF2; COUPTFB; TFCOUP2; COUPTFII
    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 transcript variants. [provided by RefSeq, Mar 2010]
    Expression
    Broad expression in ovary (RPKM 74.0), endometrium (RPKM 37.8) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NR2F2 in Genome Data Viewer
    Location:
    15q26.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (96326046..96340263)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (94090629..94104848)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (96869275..96883492)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268156 Neighboring gene NR2F2 antisense RNA 1 Neighboring gene uncharacterized LOC105370997 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:96723470-96723970 Neighboring gene NANOG hESC enhancer GRCh37_chr15:96726277-96726778 Neighboring gene uncharacterized LOC124903584 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:96794933-96796132 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:96811550-96812164 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:96816434-96817633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:96876956-96877918 Neighboring gene Sharpr-MPRA regulatory region 11279 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:96884589-96885109 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:96885110-96885629 Neighboring gene uncharacterized LOC101927263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:96897481-96898380 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:96901703-96902545 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:96905583-96906432 Neighboring gene microRNA 1469 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:96934820-96936019 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:96943980-96944194 Neighboring gene Sharpr-MPRA regulatory region 9726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:96959267-96960130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:96960131-96960994 Neighboring gene tubulin alpha pseudogene 12 Neighboring gene phosphoglycerate mutase 1 pseudogene 12

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia. High FA, et al. Am J Med Genet A, 2016 Sep. PMID 27363585, Free PMC Article
    2. NR2F2 plays a major role in insulin-induced epithelial-mesenchymal transition in breast cancer cells. Xia B, et al. BMC Cancer, 2020 Jul 6. PMID 32631390, Free PMC Article
    3. Cooperation and competition between the binding of COUP-TFII and NF-Y on human epsilon- and gamma-globin gene promoters. Liberati C, et al. J Biol Chem, 2001 Nov 9. PMID 11544252
    4. The Coup-TFII orphan nuclear receptor is an activator of the γ-globin gene. Fugazza C, et al. Haematologica, 2021 Feb 1. PMID 32107331, Free PMC Article
    5. Genomic Characterization of Endothelial Enhancers Reveals a Multifunctional Role for NR2F2 in Regulation of Arteriovenous Gene Expression. Sissaoui S, et al. Circ Res, 2020 Mar 27. PMID 32065070, Free PMC Article

    See all (158) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. An epigenetic switch controls an alternative NR2F2 isoform that unleashes a metastatic program in melanoma.
      Title: An epigenetic switch controls an alternative NR2F2 isoform that unleashes a metastatic program in melanoma.
    2. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
      Title: Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
    3. Inflammation and DKK1-induced AKT activation contribute to endothelial dysfunction following NR2F2 loss.
      Title: Inflammation and DKK1-induced AKT activation contribute to endothelial dysfunction following NR2F2 loss.
    4. The nuclear receptors SF1 and COUP-TFII cooperate on the Insl3 promoter in Leydig cells.
      Title: The nuclear receptors SF1 and COUP-TFII cooperate on the Insl3 promoter in Leydig cells.
    5. Abnormal hsa_circ_0003948 expression affects chronic periodontitis development by regulating miR-144-3p/NR2F2/PTEN signaling.
      Title: Abnormal hsa_circ_0003948 expression affects chronic periodontitis development by regulating miR-144-3p/NR2F2/PTEN signaling.
    6. Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia.
      Title: Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia.
    7. Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants.
      Title: Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants.
    8. Decidual NR2F2-Expressing CD4(+) T Cells Promote TH2 Transcriptional Program During Early Pregnancy.
      Title: Decidual NR2F2-Expressing CD4(+) T Cells Promote TH2 Transcriptional Program During Early Pregnancy.
    9. YAP1 overexpression contributes to the development of enzalutamide resistance by induction of cancer stemness and lipid metabolism in prostate cancer.
      Title: YAP1 overexpression contributes to the development of enzalutamide resistance by induction of cancer stemness and lipid metabolism in prostate cancer.
    10. The Coup-TFII orphan nuclear receptor is an activator of the gamma-globin gene.
      Title: The Coup-TFII orphan nuclear receptor is an activator of the γ-globin gene.
    Submit: New GeneRIF Correction See all GeneRIFs (93)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    46,xx sex reversal 5
    MedGen: C5394441 OMIM: 618901 GeneReviews: Not available
    		Compare labs
    Congenital heart defects, multiple types, 4
    MedGen: C4014310 OMIM: 615779 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2012-07-10)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2012-07-10)

    ClinGen Genome Curation Page

    EBI GWAS Catalog

    Description
    A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation.
    EBI GWAS Catalog
    A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
    EBI GWAS Catalog
    Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
    EBI GWAS Catalog
    Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients.
    EBI GWAS Catalog
    Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNFα inhibitors in patients with rheumatoid arthritis.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC117452

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nuclear receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nuclear receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables retinoic acid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables retinoic acid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in anterior/posterior pattern specification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in female gonad development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in fertilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in forebrain development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in interneuron migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lymphatic endothelial cell fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in maternal placenta development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of endothelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of endothelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in placenta blood vessel development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of systemic arterial blood pressure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in radial pattern formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in skeletal muscle tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in trophoblast giant cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    COUP transcription factor 2
    Names
    ADP-ribosylation factor related protein 1
    COUP transcription factor II
    apolipoprotein A-I regulatory protein 1
    apolipoprotein AI regulatory protein 1
    chicken ovalbumin upstream promoter transcription factor 2
    chicken ovalbumin upstream promoter-transcription factor I

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016753.1 RefSeqGene

      Range
      9773..19331
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145155.2 → NP_001138627.1  COUP transcription factor 2 isoform b

      See identical proteins and their annotated locations for NP_001138627.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AC016251, BC106083
      Consensus CDS
      CCDS45358.1
      UniProtKB/Swiss-Prot
      P24468
      Related
      ENSP00000401674.2, ENST00000421109.6
      Conserved Domains (1) summary
      cd06948
      Location:44 → 278
      NR_LBD_COUP-TF; Ligand binding domain of chicken ovalbumin upstream promoter transcription factors, a member of the nuclear receptor family

    2. NM_001145156.1 → NP_001138628.1  COUP transcription factor 2 isoform c

      See identical proteins and their annotated locations for NP_001138628.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode isoform c.
      Source sequence(s)
      AC016251, AK316086
      Consensus CDS
      CCDS45359.1
      UniProtKB/Swiss-Prot
      P24468
      Related
      ENSP00000377726.2, ENST00000394171.6
      Conserved Domains (1) summary
      cd06948
      Location:24 → 258
      NR_LBD_COUP-TF; Ligand binding domain of chicken ovalbumin upstream promoter transcription factors, a member of the nuclear receptor family

    3. NM_001145157.2 → NP_001138629.1  COUP transcription factor 2 isoform c

      See identical proteins and their annotated locations for NP_001138629.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) is shorter at the N-terminus compared to isoform a. Variants 3 and 4 both encode isoform c.
      Source sequence(s)
      AC016251, BC034585
      Consensus CDS
      CCDS45359.1
      UniProtKB/Swiss-Prot
      P24468
      Related
      ENSP00000389853.2, ENST00000453270.2
      Conserved Domains (1) summary
      cd06948
      Location:24 → 258
      NR_LBD_COUP-TF; Ligand binding domain of chicken ovalbumin upstream promoter transcription factors, a member of the nuclear receptor family

    4. NM_021005.4 → NP_066285.1  COUP transcription factor 2 isoform a

      See identical proteins and their annotated locations for NP_066285.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC016251, BC042897
      Consensus CDS
      CCDS10375.1
      UniProtKB/Swiss-Prot
      B4DQJ2, B6ZGU1, P24468, Q03754, Q3KQR7
      UniProtKB/TrEMBL
      F1D8R0, F1DAL8
      Related
      ENSP00000377721.3, ENST00000394166.8
      Conserved Domains (2) summary
      cd06948
      Location:177 → 411
      NR_LBD_COUP-TF; Ligand binding domain of chicken ovalbumin upstream promoter transcription factors, a member of the nuclear receptor family
      cd06958
      Location:79 → 151
      NR_DBD_COUP_TF; DNA-binding domain of chicken ovalbumin upstream promoter transcription factors (COUP-TFs) is composed of two C4-type zinc fingers

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      96326046..96340263
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      94090629..94104848
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P24468.1 GenPept UniProtKB/Swiss-Prot:P24468

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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