NR2F1
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.
Involvement in disease
Bosch-Boonstra-Schaaf optic atrophy syndrome
BBSOAS
An autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability. Most patients also have evidence of cerebral visual impairment.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the nuclear hormone receptor family. NR2 subfamily.
Cellular localization
- Nucleus
Alternative names
EAR3, ERBAL3, TFCOUP1, NR2F1, COUP transcription factor 1, COUP-TF1, COUP transcription factor I, Nuclear receptor subfamily 2 group F member 1, V-erbA-related protein 3, COUP-TF I, EAR-3