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Aliases for NR2F1 Gene

Aliases for NR2F1 Gene

  • Nuclear Receptor Subfamily 2 Group F Member 1 2 3 4 5
  • Nuclear Receptor Subfamily 2, Group F, Member 1 2 3
  • COUP Transcription Factor I 3 4
  • V-ErbA-Related Protein 3 3 4
  • COUP-TF I 3 4
  • COUP-TF1 3 4
  • TFCOUP1 3 4
  • ERBAL3 3 4
  • EAR-3 3 4
  • EAR3 3 4
  • Transcription Factor COUP 1 (Chicken Ovalbumin Upstream Promoter 1, V-Erb-A Homolog-Like 3) 3
  • Chicken Ovalbumin Upstream Promoter-Transcription Factor I 3
  • COUP-TFI 3
  • TCFCOUP1 3
  • BBSOAS 3
  • BBOAS 3
  • NR2F2 3
  • SVP44 3

External Ids for NR2F1 Gene

Previous HGNC Symbols for NR2F1 Gene

  • ERBAL3
  • TFCOUP1

Previous GeneCards Identifiers for NR2F1 Gene

  • GC05P091970
  • GC05P093388
  • GC05P092947
  • GC05P092993
  • GC05P092944
  • GC05P092920
  • GC05P088092

Summaries for NR2F1 Gene

Entrez Gene Summary for NR2F1 Gene

  • 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]

GeneCards Summary for NR2F1 Gene

NR2F1 (Nuclear Receptor Subfamily 2 Group F Member 1) is a Protein Coding gene. Diseases associated with NR2F1 include Bosch-Boonstra-Schaaf Optic Atrophy Syndrome and Optic Atrophy-Intellectual Disability Syndrome. Among its related pathways are Gene Expression and Nuclear Receptor transcription pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription coactivator activity. An important paralog of this gene is RXRG.

UniProtKB/Swiss-Prot for NR2F1 Gene

  • Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription. Binds to both direct repeats and palindromes of the 5-AGGTCA-3 motif. Represses transcriptional activity of LHCG.

Gene Wiki entry for NR2F1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NR2F1 Gene

Genomics for NR2F1 Gene

Regulatory Elements for NR2F1 Gene

Enhancers for NR2F1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NR2F1 on UCSC Golden Path with GeneCards custom track

Promoters for NR2F1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NR2F1 on UCSC Golden Path with GeneCards custom track

Genomic Location for NR2F1 Gene

Chromosome:
5
Start:
93,583,337 bp from pter
End:
93,594,615 bp from pter
Size:
11,279 bases
Orientation:
Plus strand

Genomic View for NR2F1 Gene

Genes around NR2F1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NR2F1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NR2F1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NR2F1 Gene

Proteins for NR2F1 Gene

  • Protein details for NR2F1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P10589-COT1_HUMAN
    Recommended name:
    COUP transcription factor 1
    Protein Accession:
    P10589

    Protein attributes for NR2F1 Gene

    Size:
    423 amino acids
    Molecular mass:
    46156 Da
    Quaternary structure:
    • Binds DNA as dimer; homodimer and probable heterodimer with NR2F6. Interacts with COPS2.

    Three dimensional structures from OCA and Proteopedia for NR2F1 Gene

neXtProt entry for NR2F1 Gene

Proteomics data for NR2F1 Gene at MOPED

Post-translational modifications for NR2F1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NR2F1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NR2F1 Gene

Domains & Families for NR2F1 Gene

Gene Families for NR2F1 Gene

Graphical View of Domain Structure for InterPro Entry

P10589

UniProtKB/Swiss-Prot:

COT1_HUMAN :
  • Contains 1 nuclear receptor DNA-binding domain.
  • Belongs to the nuclear hormone receptor family. NR2 subfamily.
Domain:
  • Contains 1 nuclear receptor DNA-binding domain.
Family:
  • Belongs to the nuclear hormone receptor family. NR2 subfamily.
genes like me logo Genes that share domains with NR2F1: view

Function for NR2F1 Gene

Molecular function for NR2F1 Gene

GENATLAS Biochemistry:
nuclear receptor subfamily 2,group F,member 1,steroid/thyroid hormone receptor
UniProtKB/Swiss-Prot Function:
Coup (chicken ovalbumin upstream promoter) transcription factor binds to the ovalbumin promoter and, in conjunction with another protein (S300-II) stimulates initiation of transcription. Binds to both direct repeats and palindromes of the 5-AGGTCA-3 motif. Represses transcriptional activity of LHCG.
UniProtKB/Swiss-Prot Induction:
Inhibited by gonadotropin in granulosa cells.

Gene Ontology (GO) - Molecular Function for NR2F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004879 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding IEA --
GO:0005515 protein binding IPI 11043578
genes like me logo Genes that share ontologies with NR2F1: view
genes like me logo Genes that share phenotypes with NR2F1: view

Human Phenotype Ontology for NR2F1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NR2F1 Gene

MGI Knock Outs for NR2F1:

Animal Model Products

miRNA for NR2F1 Gene

miRTarBase miRNAs that target NR2F1

Transcription Factor Targets for NR2F1 Gene

Selected GeneGlobe predicted Target genes for NR2F1

No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for NR2F1 Gene

Localization for NR2F1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NR2F1 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NR2F1 Gene COMPARTMENTS Subcellular localization image for NR2F1 gene
Compartment Confidence
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for NR2F1 Gene

Pathways & Interactions for NR2F1 Gene

genes like me logo Genes that share pathways with NR2F1: view

Pathways by source for NR2F1 Gene

2 BioSystems pathways for NR2F1 Gene
2 Qiagen pathways for NR2F1 Gene

SIGNOR curated interactions for NR2F1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for NR2F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007165 signal transduction TAS 2739739
GO:0030522 intracellular receptor signaling pathway IEA,TAS 8530078
genes like me logo Genes that share ontologies with NR2F1: view

Drugs & Compounds for NR2F1 Gene

(4) Drugs for NR2F1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for NR2F1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NR2F1: view

Transcripts for NR2F1 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for NR2F1 Gene

No ASD Table

Relevant External Links for NR2F1 Gene

GeneLoc Exon Structure for
NR2F1
ECgene alternative splicing isoforms for
NR2F1

Expression for NR2F1 Gene

mRNA expression in normal human tissues for NR2F1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NR2F1 Gene

This gene is overexpressed in Liver (41.0), Bone (13.8), and Fetal Brain (13.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NR2F1 Gene



genes like me logo Genes that share expression patterns with NR2F1: view

Protein tissue co-expression partners for NR2F1 Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NR2F1 Gene

Orthologs for NR2F1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NR2F1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NR2F1 35
  • 96.06 (n)
  • 98.82 (a)
NR2F1 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NR2F1 35
  • 97.32 (n)
  • 99.29 (a)
-- 36
  • 60 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Nr2f1 35
  • 94.44 (n)
  • 98.81 (a)
Nr2f1 16
Nr2f1 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NR2F1 35
  • 99.68 (n)
  • 100 (a)
NR2F1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nr2f1 35
  • 94.75 (n)
  • 98.57 (a)
oppossum
(Monodelphis domestica)
Mammalia NR2F1 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 34 (a)
ManyToMany
chicken
(Gallus gallus)
Aves LOC100859519 35
  • 90.83 (n)
  • 94.98 (a)
NR2F1 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NR2F1 36
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nr2f1 35
  • 85.33 (n)
  • 95.84 (a)
Str.15669 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.528 35
zebrafish
(Danio rerio)
Actinopterygii nr2f1 35
nr2f1a 35
  • 81.91 (n)
  • 95.62 (a)
nr2f1a 36
  • 96 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dsf 37
  • 40 (a)
svp 37
  • 87 (a)
svp 36
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-55 37
  • 34 (a)
unc-55 35
  • 46.39 (n)
  • 42.63 (a)
Species with no ortholog for NR2F1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NR2F1 Gene

ENSEMBL:
Gene Tree for NR2F1 (if available)
TreeFam:
Gene Tree for NR2F1 (if available)

Paralogs for NR2F1 Gene

Paralogs for NR2F1 Gene

genes like me logo Genes that share paralogs with NR2F1: view

Variants for NR2F1 Gene

Sequence variations from dbSNP and Humsavar for NR2F1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_071319 Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)
VAR_071320 Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)
VAR_071321 Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)
VAR_071322 Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)
rs149575 -- 93,585,895(-) AAACA(C/G)AGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NR2F1 Gene

Variant ID Type Subtype PubMed ID
nsv830404 CNV Loss 17160897
nsv882383 CNV Loss 21882294
dgv954n67 CNV Gain 20364138
nsv4918 CNV Loss 18451855
esv23147 CNV Loss 19812545

Variation tolerance for NR2F1 Gene

Residual Variation Intolerance Score: 20.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.12; 2.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NR2F1 Gene

Human Gene Mutation Database (HGMD)
NR2F1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NR2F1 Gene

Disorders for NR2F1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NR2F1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bosch-boonstra-schaaf optic atrophy syndrome
  • bbsoas
optic atrophy-intellectual disability syndrome
cerebral visual impairment
  • cortical visual impairment
chronic purulent otitis media
  • chronic suppurative otitis media
- elite association - COSMIC cancer census association via MalaCards
Search NR2F1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

COT1_HUMAN
  • Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722]: An autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment. {ECO:0000269 PubMed:24462372}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NR2F1

Genetic Association Database (GAD)
NR2F1
Human Genome Epidemiology (HuGE) Navigator
NR2F1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NR2F1
genes like me logo Genes that share disorders with NR2F1: view

No data available for Genatlas for NR2F1 Gene

Publications for NR2F1 Gene

  1. Isolation, characterization, and chromosomal localization of mouse and human COUP-TF I and II genes. (PMID: 8530078) Qiu Y. … Tsai S.Y. (Genomics 1995) 2 3 23 67
  2. Immunohistochemistry of COUP-TFI: an adjuvant diagnostic tool for the identification of corticotroph microadenomas. (PMID: 19526345) Bush Z.M. … Vance M.L. (Pituitary 2010) 3 23
  3. Genome-wide analysis of binding sites and direct target genes of the orphan nuclear receptor NR2F1/COUP-TFI. (PMID: 20111703) Montemayor C. … Pereira F.A. (PLoS ONE 2010) 3 23
  4. COUP-TFI modulates estrogen signaling and influences proliferation, survival and migration of breast cancer cells. (PMID: 17674191) Le Dily F. … Pakdel F. (Breast Cancer Res. Treat. 2008) 3 23
  5. Chicken ovalbumin upstream promoter-transcription factor I represses the transcriptional activity of the human muscle glycogen phosphorylase promoter in C2C12 cells. (PMID: 15157742) Ferrer-MartA-nez A. … GA^mez-Foix A.M. (Biochim. Biophys. Acta 2004) 3 23

Products for NR2F1 Gene

Sources for NR2F1 Gene

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