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Description for Protein NR2E3

nuclear receptor subfamily 2, group E, member 3
26 total interacting proteins; 9 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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] (PubMed Links)
Domains and Motifs:
  • HOLI: Ligand binding domain of hormone receptors
  • ZnF_C4: c4 zinc finger in nuclear hormone receptors
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K08546
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Photoreceptor specific nuclear receptor; PNR; Retina specific nuclear receptor; RNR; ESCS; MGC49976; Photoreceptor-specific nuclear receptor isoform b; Photoreceptor-specific nuclear receptor isoform a
    Approved Symbol:
    NR2E3
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Enhanced s-cone syndrome(Pd);
  • Retinitis pigmentosa, autosomal recessive(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05132 Entrez Gene ID: 10002 OMIM ID: 604485 Swissprot Accession: Q9Y5X4; B6ZGU0;