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NR2F1

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).
Protein class

Disease related genes, Human disease related genes, Nuclear receptors, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Endometrial stromal cells, Hepatic stellate cells, Leydig cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Cell line enhanced (AF22, AN3-CA, HHSteC, hTERT-RPE1, PC-3)

Interaction

Binds DNA as dimer; homodimer and probable heterodimer with NR2F6 (PubMed:11682620). Interacts with GTF2B; this interaction is direct (PubMed:1517211). Interacts with COPS2 (PubMed:10207062).

Molecular function

Activator, DNA-binding, Receptor, Repressor

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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