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NR2E3
This protein is part of a large family of nuclear receptor transcription factors involved in signaling pathways. Nuclear receptors have been shown to regulate pathways involved in embryonic development, as well as in maintenance of proper cell function in adults. Members of this family are characterized by discrete domains that function in DNA and ligand binding. This gene encodes a retinal nuclear receptor that is a ligand-dependent transcription factor. Defects in this gene are a cause of enhanced S cone syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Protein class
Disease related genes, Human disease related genes, Nuclear receptors, Transcription factors
Predicted location
Intracellular
Single cell type specificity
Cell type enriched (Rod photoreceptor cells)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Not detected
Interaction
Homodimer. Interacts with PIAS3; the interaction sumoylates NR2E3 and promotes repression of cone-specific gene transcription and activation of rod-specific genes (By similarity). Component of a complex that includes NR2E3, PIAS3, NRL, CRX and/or NR1D1. Binds NR1D1. Binds directly in the complex with CRX, PIAS3 and NR1D1 (By similarity). Interacts (via the DNA-binding domain) with CRX (via its DNA binding domain); the interaction represses S- and M-cone opsin expression.
Molecular function
DNA-binding, Receptor, Repressor
More Types Infomation
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- Species Reactivity: Human
- Application: WB
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For Research Use Only. Not For Clinical Use.