Homo sapiens Gene: NR2F1
Summary
InnateDB Gene IDBG-33322.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NR2F1
Gene Name nuclear receptor subfamily 2, group F, member 1
Synonyms BBOAS; BBSOAS; COUP-TFI; EAR-3; EAR3; ERBAL3; NR2F2; SVP44; TCFCOUP1; TFCOUP1;
Species Homo sapiens
Ensembl Gene ENSG00000175745
Encoded Proteins
nuclear receptor subfamily 2, group F, member 1
nuclear receptor subfamily 2, group F, member 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:93583337-93594615
Strand Forward strand
Band q15
Transcripts
ENST00000327111 ENSP00000325819
ENST00000512697
ENST00000502982
ENST00000506162
ENST00000615873 ENSP00000481517
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
Experimentally validated
Total 25 [view]
Protein-Protein 25 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003707 steroid hormone receptor activity
GO:0003713 transcription coactivator activity
GO:0004879 ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0043565 sequence-specific DNA binding
GO:0044323 retinoic acid-responsive element binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001764 neuron migration
GO:0006355 regulation of transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0007165 signal transduction
GO:0007399 nervous system development
GO:0010467 gene expression
GO:0010977 negative regulation of neuron projection development
GO:0021796 cerebral cortex regionalization
GO:0030522 intracellular receptor signaling pathway
GO:0030900 forebrain development
GO:0043401 steroid hormone mediated signaling pathway
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
Nuclear Receptor transcription pathway pathway
Generic Transcription Pathway pathway
Gene Expression pathway
KEGG
INOH
PID BIOCARTA
Mechanism of gene regulation by peroxisome proliferators via ppara [Biocarta view]
PID NCI
Cross-References
SwissProt P10589
TrEMBL
UniProt Splice Variant
Entrez Gene 7025
UniGene Hs.519445 Hs.707187
RefSeq NM_005654
HUGO HGNC:7975
OMIM 132890
CCDS CCDS4068
HPRD 00584
IMGT
EMBL BC004154 BC017493 X12795 X16155
GenPept AAH04154 AAH17493 CAA31283 CAA34277
RNA Seq Atlas 7025