Aliases for NR2F1 Gene
External Ids for NR2F1 Gene
Previous HGNC Symbols for NR2F1 Gene
Previous GeneCards Identifiers 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 Exotropia. Among its related pathways are Gene Expression and Nuclear Receptor transcription pathway. 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 Summary 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.