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SRY (sex determining region Y)-box 3 (HGNC Symbol)
Entrez gene summary
This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. Mutations in this gene have been associated with X-linked mental retardation with growth hormone deficiency. [provided by RefSeq, Jul 2008]
Predicted intracellular proteins Transcription factors Other all-alpha-helical DNA-binding domains Disease related genes Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000979 [RNA polymerase II core promoter sequence-specific DNA binding] GO:0001106 [RNA polymerase II transcription corepressor activity] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005654 [nucleoplasm] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0007417 [central nervous system development] GO:0007423 [sensory organ development] GO:0007530 [sex determination] GO:0009887 [organ morphogenesis] GO:0021854 [hypothalamus development] GO:0021983 [pituitary gland development] GO:0030900 [forebrain development] GO:0045665 [negative regulation of neuron differentiation] GO:0048515 [spermatid differentiation] GO:0048666 [neuron development] GO:0060324 [face development]