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 optic atrophy-intellectual disability syndrome and bosch-boonstra-schaaf optic atrophy syndrome. Among its related pathways are Developmental Biology and Oct4 in Mammalian ESC Pluripotency. 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 RXRG.
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.