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Aliases for NR2F1 Gene

Aliases for NR2F1 Gene

  • Nuclear Receptor Subfamily 2 Group F Member 1 2 3 4 5
  • 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
  • Nuclear Receptor Subfamily 2, Group F, Member 1 2
  • COUP Transcription Factor 1 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 Chronic Purulent Otitis Media. Among its related pathways are Oct4 in Mammalian ESC Pluripotency and Gene Expression. 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 NR2F2.

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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G093606 1.5 Ensembl ENCODE dbSUPER 13.3 +24.3 24250 1.4 PKNOX1 FOXA2 FEZF1 ZNF2 FOS ZNF263 TSHZ1 REST PPARG NFIL3 NR2F1 NR2F1-AS1 ENSG00000278905 MIR2277
GH05G093612 0.9 Ensembl dbSUPER 12.6 +29.2 29164 0.2 RNF2 ZNF740 SUZ12 HLF CBX2 REST ZSCAN9 ZNF341 ZNF600 ZBTB20 NR2F1 NR2F1-AS1 MIR2277 ENSG00000278905
GH05G093576 1.8 FANTOM5 ENCODE dbSUPER 5.6 -1.7 -1722 10.1 MLX FEZF1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 NFYC ZFP41 NPM1P27 MIR2277 NR2F1-AS1 ENSG00000251023 NR2F1 PIR38533
GH05G093090 1.8 VISTA ENCODE 5.2 -491.2 -491219 2.6 CTCF HLF SMC3 CREB1 HOMEZ RAD21 ENSG00000251361 NR2F1 GC05P093091 LOC105379083
GH05G092634 1.8 VISTA 4.2 -947.9 -947946 1.9 ZNF202 ZFHX2 SMARCA4 TRIM28 NR2F1 ENSG00000249169 GC05P092605
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000184047 -137 7600 MLX FEZF1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 NFYC ZFP41

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

Post-translational modifications for NR2F1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NR2F1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for NR2F1 (COUP-TF I/NR2F1)
  • Cell Signaling Technology (CST) Antibodies for NR2F1 (NR2F1)

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 :
  • Belongs to the nuclear hormone receptor family. NR2 subfamily.
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:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA 10644740
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 10644740
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IDA,IEA 10644740
GO:0003707 steroid hormone receptor activity IEA --
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

CRISPR Products

miRNA for NR2F1 Gene

miRTarBase miRNAs that target NR2F1

Transcription Factor Targets for NR2F1 Gene

Selected GeneGlobe predicted Target genes for NR2F1

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NR2F1 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for NR2F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 10644740
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with NR2F1: view

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:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 10644740
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006367 transcription initiation from RNA polymerase II promoter TAS --
GO:0007165 signal transduction TAS 2739739
genes like me logo Genes that share ontologies with NR2F1: view

Drugs & Compounds for NR2F1 Gene

(3) Drugs for NR2F1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) 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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for NR2F1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for NR2F1 Gene



Protein tissue co-expression partners for NR2F1 Gene

NURSA nuclear receptor signaling pathways regulating expression of NR2F1 Gene:

NR2F1

Evidence on tissue expression from TISSUES for NR2F1 Gene

  • Lung(4.2)
  • Nervous system(3)
  • Liver(2.8)
  • Intestine(2.5)
  • Kidney(2.5)
  • Heart(2.2)
  • Stomach(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NR2F1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
Limb:
  • digit
  • finger
  • hand
  • upper limb
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with NR2F1: view

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
chimpanzee
(Pan troglodytes)
Mammalia NR2F1 34 35
  • 99.68 (n)
oppossum
(Monodelphis domestica)
Mammalia NR2F1 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NR2F1 34
  • 97.32 (n)
-- 35
  • 60 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia NR2F1 34 35
  • 96.06 (n)
rat
(Rattus norvegicus)
Mammalia Nr2f1 34
  • 94.75 (n)
mouse
(Mus musculus)
Mammalia Nr2f1 34 16 35
  • 94.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 34 (a)
ManyToMany
chicken
(Gallus gallus)
Aves NR2F1 35
  • 96 (a)
OneToOne
LOC100859519 34
  • 90.83 (n)
lizard
(Anolis carolinensis)
Reptilia NR2F1 35
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nr2f1 34
  • 85.33 (n)
Str.15669 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.528 34
zebrafish
(Danio rerio)
Actinopterygii nr2f1a 34 35
  • 81.91 (n)
nr2f1 34
fruit fly
(Drosophila melanogaster)
Insecta svp 36 35
  • 87 (a)
dsf 36
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-55 36 34
  • 46.39 (n)
Species where no ortholog for NR2F1 was found in the sources mined by GeneCards:
  • 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

Variants for NR2F1 Gene

Sequence variations from dbSNP and Humsavar for NR2F1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs587777274 other, Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722] 93,585,367(+) CGTCC(C/G)CAGGA upstream-variant-2KB, reference, missense
rs587777275 other, Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722] 93,585,362(+) AGGAG(A/C/T)GTCCG upstream-variant-2KB, reference, synonymous-codon
rs587777276 other, Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722] 93,588,208(+) CCTGC(C/T)ACGCC reference, missense
rs587777277 other, Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722] 93,585,358(+) CAAGA(A/G)GAGCG upstream-variant-2KB, reference, missense
rs1057519434 Pathogenic 93,585,436(+) CCAGT(A/G)CCAAT upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv3128n106 CNV deletion 24896259
dgv954n67 CNV gain 20364138
dgv9936n54 CNV gain 21841781
esv23147 CNV loss 19812545
nsv1074856 CNV deletion 25765185
nsv4918 CNV deletion 18451855
nsv598943 CNV gain+loss 21841781
nsv598944 CNV loss 21841781
nsv598949 CNV loss 21841781
nsv830404 CNV loss 17160897
nsv950106 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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
chronic purulent otitis media
  • chronic suppurative otitis media
cerebral visual impairment
  • cortical visual impairment
deafness, autosomal dominant 15
  • autosomal dominant nonsyndromic deafness 15
- 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. Alien, a highly conserved protein with characteristics of a corepressor for members of the nuclear hormone receptor superfamily. (PMID: 10207062) Dressel U. … Baniahmad A. (Mol. Cell. Biol. 1999) 3 4 22 64
  2. 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 22 64
  3. NR2F1 mutations cause optic atrophy with intellectual disability. (PMID: 24462372) Bosch D.G. … Schaaf C.P. (Am. J. Hum. Genet. 2014) 3 4 64
  4. 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 22 64
  5. 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 22 64

Products for NR2F1 Gene

  • Addgene plasmids for NR2F1

Sources for NR2F1 Gene

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