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 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.