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

• 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
• ERBAL3
• EAR3
• NR2F1
• TFCOUP1

Database links

• entrezGene:7025
• omim:132890
• swissprot:P10589

Target type

Proteins

Molecular weight

46156Da