Free for academic non-profit institutions. Other users need a Commercial license

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
  • COUPTF1 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 Cerebral Visual Impairment. Among its related pathways are Gene Expression and Adipogenesis. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity 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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for NR2F1 Gene

Promoters and enhancers for NR2F1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J093576 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 655.6 -0.1 -145 13.1 MLX FEZF1 YY1 ZNF213 ZNF416 ZNF143 ZNF548 SP3 NFYC ZFP41 NR2F1 NPM1P27 POU5F2 NR2F1-AS1 MIR2277 ENSG00000272406 FAM172A ENSG00000251023 PIR38533
GH05J093606 Enhancer 1.2 Ensembl ENCODE dbSUPER 13.3 +24.4 24362 1.4 PKNOX1 FOXA2 MZF1 SIN3A FEZF1 ZNF2 RAD21 ZNF335 ZNF366 ZSCAN5C NR2F1 NR2F1-AS1 ENSG00000278905 MIR2277
GH05J093612 Enhancer 0.8 Ensembl dbSUPER 12.6 +29.3 29277 0.2 ZNF740 HLF SIN3A ZBTB25 REST ZSCAN9 ZNF148 ZNF335 ZNF341 VEZF1 NR2F1 NR2F1-AS1 MIR2277 ENSG00000278905
GH05J093090 Enhancer 1.1 VISTA UCNEbase ENCODE 5.2 -491.1 -491106 2.6 CTCF NFIL3 HLF CREB1 SMC3 HOMEZ RAD21 GC05P093091 ENSG00000251361 NR2F1 LOC105379083
GH05J093076 Enhancer 1.2 Ensembl ENCODE 4.3 -504.2 -504196 4.3 PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 SLC30A9 ATF7 FOS ENSG00000251361 NPM1P27 NR2F1 GC05P093091
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NR2F1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NR2F1 gene promoter:
  • AP-1
  • HNF-4alpha1
  • CREB
  • HNF-4alpha2
  • c-Jun
  • ATF-2
  • deltaCREB
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for NR2F1 Gene

Genomic Locations for NR2F1 Gene
chr5:93,583,224-93,594,615
(GRCh38/hg38)
Size:
11,392 bases
Orientation:
Plus strand
chr5:92,919,043-92,930,321
(GRCh37/hg19)
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

No data available for DME Specific Peptides for NR2F1 Gene

Domains & Families for NR2F1 Gene

Gene Families for NR2F1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Nuclear receptors
  • Predicted intracellular proteins
  • Transcription factors

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

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.
GENATLAS Biochemistry:
nuclear receptor subfamily 2,group F,member 1,steroid/thyroid hormone receptor

Gene Ontology (GO) - Molecular Function for NR2F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 10644740
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 10644740
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA,IDA 10644740
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

Clone Products

  • Addgene plasmids for NR2F1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog 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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NR2F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10644740
GO:0005654 nucleoplasm IDA,TAS --
GO:0005829 cytosol IDA --
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 by RNA polymerase II 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

(4) Drugs for NR2F1 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
beta-Naphthoflavone Experimental Pharma Target 0

(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

mRNA/cDNA for NR2F1 Gene

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, 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(2.7)
  • Heart(2.5)
  • Intestine(2.5)
  • Kidney(2.4)
  • 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
Regions:
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

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 33
  • 99.68 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NR2F1 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NR2F1 33
  • 97.32 (n)
-- 34
  • 60 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia NR2F1 34 33
  • 96.06 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nr2f1 33
  • 94.75 (n)
mouse
(Mus musculus)
Mammalia Nr2f1 16 34 33
  • 94.44 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 34 (a)
ManyToMany
chicken
(Gallus gallus)
Aves NR2F1 34
  • 96 (a)
OneToOne
LOC100859519 33
  • 90.83 (n)
lizard
(Anolis carolinensis)
Reptilia NR2F1 34
  • 97 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nr2f1 33
  • 85.33 (n)
Str.15669 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.528 33
zebrafish
(Danio rerio)
Actinopterygii nr2f1a 34 33
  • 81.91 (n)
OneToOne
nr2f1 33
fruit fly
(Drosophila melanogaster)
Insecta dsf 35
  • 40 (a)
svp 34 35
  • 35 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-55 35 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NR2F1: view image

Paralogs for NR2F1 Gene

Paralogs for NR2F1 Gene

(39) SIMAP similar genes for NR2F1 Gene using alignment to 5 proteins:

  • COT1_HUMAN
  • F1DAL6_HUMAN
  • F1DAL7_HUMAN
  • F1DAL8_HUMAN
  • F1DAL9_HUMAN
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 Variation AA Info Type
rs1057519434 pathogenic, Bosch-Boonstra-Schaaf optic atrophy syndrome 93,585,436(+) G/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs1060499589 uncertain-significance, Bosch-Boonstra-Schaaf optic atrophy syndrome 93,593,787(+) T/C coding_sequence_variant, missense_variant
rs587777274 conflicting-interpretations-of-pathogenicity, Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722] 93,585,367(+) G/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs587777275 conflicting-interpretations-of-pathogenicity, Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722] 93,585,362(+) C/A/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, synonymous_variant, upstream_transcript_variant
rs587777276 conflicting-interpretations-of-pathogenicity, Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722] 93,588,208(+) T/C coding_sequence_variant, missense_variant

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

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

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)

Additional Variant Information for NR2F1 Gene

Human Gene Mutation Database (HGMD)
NR2F1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NR2F1

SNP Genotyping and Copy Number Assay Products

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

Disorders for NR2F1 Gene

MalaCards: The human disease database

(7) MalaCards diseases for NR2F1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bosch-boonstra-schaaf optic atrophy syndrome
  • bbsoas
cerebral visual impairment
  • cortical visual impairment
deafness, autosomal dominant 15
  • dfna15
chronic purulent otitis media
  • chronic suppurative otitis media
diaphragm disease
  • abnormality of the diaphragm
- 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.

Additional Disease Information for NR2F1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Molecular and cellular biology 1999) 3 4 22 58
  2. Isolation, characterization, and chromosomal localization of mouse and human COUP-TF I and II genes. (PMID: 8530078) Qiu Y … Tsai SY (Genomics 1995) 2 3 22 58
  3. NR2F1 mutations cause optic atrophy with intellectual disability. (PMID: 24462372) Bosch DG … Schaaf CP (American journal of human genetics 2014) 3 4 58
  4. Genome-wide analysis of binding sites and direct target genes of the orphan nuclear receptor NR2F1/COUP-TFI. (PMID: 20111703) Montemayor C … Pereira FA (PloS one 2010) 3 22 58
  5. Immunohistochemistry of COUP-TFI: an adjuvant diagnostic tool for the identification of corticotroph microadenomas. (PMID: 19526345) Bush ZM … Vance ML (Pituitary 2010) 3 22 58

Products for NR2F1 Gene

  • Addgene plasmids for NR2F1

Sources for NR2F1 Gene

Content
Loading form....