NR4A3: Binds to the B1A response-element. Defects in NR4A3 are a cause of Ewing sarcoma (ES). A highly malignant, metastatic, primitive small round cell tumor of bone and soft tissue that affects children and adolescents. It belongs to the Ewing sarcoma family of tumors, a group of morphologically heterogeneous neoplasms that share the same cytogenetic features. They are considered neural tumors derived from cells of the neural crest. Ewing sarcoma represents the less differentiated form of the tumors. A chromosomal aberration involving NR4A3 is found in patients with Erwing sarcoma. Translocation t(9;22)(q22-31;q11-12) with EWSR1. A chromosomal aberration involving NR4A3 is a cause of a form of extraskeletal myxoid chondrosarcomas (EMC). Translocation t(9;17)(q22;q11) with TAF2N. Belongs to the nuclear hormone receptor family. NR4 subfamily. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Oncoprotein; DNA-binding; Nuclear receptor
Chromosomal Location of Human Ortholog: 9q22
Cellular Component: nucleoplasm; transcription factor complex; nucleus
Molecular Function: protein binding; DNA binding; zinc ion binding; sequence-specific DNA binding; steroid hormone receptor activity; thyroid hormone receptor activity
Biological Process: response to peptide hormone stimulus; axon guidance; transcription initiation from RNA polymerase II promoter; organ regeneration; intracellular receptor-mediated signaling pathway; hippocampus development; semicircular canal morphogenesis; positive regulation of cell cycle; response to hydrogen peroxide; mesoderm formation; vestibular reflex; adult behavior; positive regulation of transcription from RNA polymerase II promoter; steroid hormone mediated signaling; gene expression; negative regulation of neuron apoptosis; neuromuscular process controlling balance
Disease: Chondrosarcoma, Extraskeletal Myxoid
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