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SRY (sex determining region Y)-box 10 (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 activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. Mutations in this gene are associated with Waardenburg-Shah and Waardenburg-Hirschsprung disease. [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:0003713 [transcription coactivator activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0006357 [regulation of transcription from RNA polymerase II promoter] GO:0009653 [anatomical structure morphogenesis] GO:0042802 [identical protein binding]
Predicted intracellular proteins Transcription factors Other all-alpha-helical DNA-binding domains Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0000980 [RNA polymerase II distal enhancer sequence-specific DNA binding] GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding] GO:0001190 [transcriptional activator activity, RNA polymerase II transcription factor binding] GO:0001701 [in utero embryonic development] GO:0001755 [neural crest cell migration] GO:0002052 [positive regulation of neuroblast proliferation] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0003705 [transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding] GO:0003713 [transcription coactivator activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005737 [cytoplasm] GO:0006355 [regulation of transcription, DNA-templated] GO:0006357 [regulation of transcription from RNA polymerase II promoter] GO:0006366 [transcription from RNA polymerase II promoter] GO:0007422 [peripheral nervous system development] GO:0008134 [transcription factor binding] GO:0009653 [anatomical structure morphogenesis] GO:0014015 [positive regulation of gliogenesis] GO:0030154 [cell differentiation] GO:0030318 [melanocyte differentiation] GO:0031315 [extrinsic component of mitochondrial outer membrane] GO:0032808 [lacrimal gland development] GO:0042802 [identical protein binding] GO:0043066 [negative regulation of apoptotic process] GO:0044212 [transcription regulatory region DNA binding] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048469 [cell maturation] GO:0048484 [enteric nervous system development] GO:0048546 [digestive tract morphogenesis] GO:0048589 [developmental growth] GO:0048709 [oligodendrocyte differentiation] GO:0048863 [stem cell differentiation] GO:0061138 [morphogenesis of a branching epithelium] GO:0090090 [negative regulation of canonical Wnt signaling pathway]