U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

NR2F1 nuclear receptor subfamily 2 group F member 1 [ Homo sapiens (human) ]

Gene ID: 7025, updated on 7-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
NR2F1provided by HGNC
Official Full Name
nuclear receptor subfamily 2 group F member 1provided by HGNC
Primary source
HGNC:HGNC:7975
See related
Ensembl:ENSG00000175745 MIM:132890; AllianceGenome:HGNC:7975
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
EAR3; BBOAS; EAR-3; SVP44; BBSOAS; ERBAL3; COUPTF1; TFCOUP1; COUP-TFI; TCFCOUP1
Summary
The protein encoded by this gene is a nuclear hormone receptor and transcriptional regulator. The encoded protein acts as a homodimer and binds to 5'-AGGTCA-3' repeats. Defects in this gene are a cause of Bosch-Boonstra optic atrophy syndrome (BBOAS). [provided by RefSeq, Apr 2014]
Expression
Broad expression in placenta (RPKM 21.7), ovary (RPKM 21.4) and 21 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
5q15
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (93583222..93594611)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (94067283..94078673)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (92918928..92930317)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs1060 Neighboring gene VISTA enhancer hs1172 Neighboring gene DNA polymerase delta 2, accessory subunit pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:92694967-92696166 Neighboring gene Sharpr-MPRA regulatory region 8230 Neighboring gene NR2F1 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:92792425-92792926 Neighboring gene VISTA enhancer hs546 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:92840906-92841406 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16175 Neighboring gene uncharacterized LOC124901026 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22788 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16177 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:92931735-92932535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:92932536-92933335 Neighboring gene uncharacterized LOC124901027 Neighboring gene NANOG hESC enhancer GRCh37_chr5:92935096-92935597 Neighboring gene Sharpr-MPRA regulatory region 13970 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:92953840-92954648 Neighboring gene microRNA 2277 Neighboring gene ARB2 cotranscriptional regulator A

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: 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

Go to the top of the pageHelp

Related articles in PubMed

  1. NR2F1-Related Neurodevelopmental Disorder. Adam MP, et al. , 1993. PMID 36508512
  2. NR2F1 Is a Barrier to Dissemination of Early-Stage Breast Cancer Cells. Rodriguez-Tirado C, et al. Cancer Res, 2022 Jun 15. PMID 35471456, Free PMC Article
  3. Metabolic Switch Under Glucose Deprivation Leading to Discovery of NR2F1 as a Stimulus of Osteoblast Differentiation. Lee E, et al. J Bone Miner Res, 2022 Jul. PMID 35462433
  4. NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome. Billiet B, et al. Hum Mutat, 2022 Feb. PMID 34837429
  5. An NR2F1-specific agonist suppresses metastasis by inducing cancer cell dormancy. Khalil BD, et al. J Exp Med, 2022 Jan 3. PMID 34812843, Free PMC Article

See all (92) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PTEN decreases NR2F1 expression to inhibit ciliogenesis during EGFR[L858R]-induced lung cancer progression.
    Title: PTEN decreases NR2F1 expression to inhibit ciliogenesis during EGFR(L858R)-induced lung cancer progression.
  2. Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.
    Title: Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype.
  3. Spatial control of astrogenesis progression by cortical arealization genes.
    Title: Spatial control of astrogenesis progression by cortical arealization genes.
  4. METTL3 inhibits inflammation of retinal pigment epithelium cells by regulating NR2F1 in an m(6)A-dependent manner.
    Title: METTL3 inhibits inflammation of retinal pigment epithelium cells by regulating NR2F1 in an m(6)A-dependent manner.
  5. Metabolic Switch Under Glucose Deprivation Leading to Discovery of NR2F1 as a Stimulus of Osteoblast Differentiation.
    Title: Metabolic Switch Under Glucose Deprivation Leading to Discovery of NR2F1 as a Stimulus of Osteoblast Differentiation.
  6. NR2F1 Is a Barrier to Dissemination of Early-Stage Breast Cancer Cells.
    Title: NR2F1 Is a Barrier to Dissemination of Early-Stage Breast Cancer Cells.
  7. NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
    Title: NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.
  8. Long noncoding RNA NR2F1-AS1 plays a carcinogenic role in gastric cancer by recruiting transcriptional factor SPI1 to upregulate ST8SIA1 expression.
    Title: Long noncoding RNA NR2F1-AS1 plays a carcinogenic role in gastric cancer by recruiting transcriptional factor SPI1 to upregulate ST8SIA1 expression.
  9. The Parkinson's-disease-associated mutation LRRK2-G2019S alters dopaminergic differentiation dynamics via NR2F1.
    Title: The Parkinson's-disease-associated mutation LRRK2-G2019S alters dopaminergic differentiation dynamics via NR2F1.
  10. An NR2F1-specific agonist suppresses metastasis by inducing cancer cell dormancy.
    Title: An NR2F1-specific agonist suppresses metastasis by inducing cancer cell dormancy.
Submit: New GeneRIF Correction See all GeneRIFs (45)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2022-08-09)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2022-08-09)

ClinGen Genome Curation PagePubMed

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

Go to the top of the page Help

Replication interactions

Interaction Pubs
Knockdown of nuclear receptor subfamily 2, group F, member 1 (NR2F1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Tat tat Through amino acids 49-148, COUP-TF physically interacts with amino acids 48-72 of HIV-1 Tat, allowing COUP-TF to cooperate with Tat during transactivation of the HIV-1 LTR promoter PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription repressor activity, RNA polymerase II-specific 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 RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables nuclear receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables retinoic acid-responsive element binding IEA
Inferred from Electronic Annotation
more info
  
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables sequence-specific double-stranded 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 anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in intracellular receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
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 nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
COUP transcription factor 1
Names
COUP transcription factor I
COUP-TF I
COUP-TF1
V-erbA-related protein 3
chicken ovalbumin upstream promoter-transcription factor I
transcription factor COUP 1 (chicken ovalbumin upstream promoter 1, v-erb-a homolog-like 3)

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_034119.1 RefSeqGene

    Range
    4886..16275
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001410754.1 → NP_001397683.1  COUP transcription factor 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC106818
    Consensus CDS
    CCDS93743.1
    UniProtKB/TrEMBL
    A0A8V8TQQ6
    Related
    ENSP00000514863.1, ENST00000512697.2

  2. NM_005654.6 → NP_005645.1  COUP transcription factor 1 isoform 1

    See identical proteins and their annotated locations for NP_005645.1

    Status: REVIEWED

    Source sequence(s)
    AC106818, AF087978, BC017493
    Consensus CDS
    CCDS4068.1
    UniProtKB/Swiss-Prot
    P10589
    UniProtKB/TrEMBL
    F1DAL6
    Related
    ENSP00000325819.3, ENST00000327111.8
    Conserved Domains (2) summary
    cd06948
    Location:184 → 419
    NR_LBD_COUP-TF; Ligand binding domain of chicken ovalbumin upstream promoter transcription factors, a member of the nuclear receptor family
    cd06958
    Location:86 → 158
    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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    93583222..93594611
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    94067283..94078673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P10589.1 GenPept UniProtKB/Swiss-Prot:P10589

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous