NR2F1 gene

nuclear receptor subfamily 2 group F member 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Bosch-Boonstra-Schaaf optic atrophy syndrome

From UniProt:

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. [MIM:615722]

Cytogenetic Location: 5q15, which is the long (q) arm of chromosome 5 at position 15

Molecular Location: base pairs 93,583,337 to 93,594,613 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q15, which is the long (q) arm of chromosome 5 at position 15
  • BBOAS
  • BBSOAS
  • COUP-TFI
  • EAR-3
  • EAR3
  • ERBAL3
  • NR2F2
  • SVP44
  • TCFCOUP1
  • TFCOUP1