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SRY (sex determining region Y)-box 2 (HGNC Symbol)
Entrez gene summary
This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]
Predicted intracellular proteins Transcription factors Other all-alpha-helical DNA-binding domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Amplifications COSMIC Somatic Mutations 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:0000976 [transcription regulatory region sequence-specific DNA binding] GO:0000981 [RNA polymerase II transcription factor activity, sequence-specific DNA binding] GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001649 [osteoblast differentiation] GO:0001654 [eye development] GO:0001708 [cell fate specification] GO:0001714 [endodermal cell fate specification] 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:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005667 [transcription factor complex] GO:0005737 [cytoplasm] GO:0005829 [cytosol] GO:0006325 [chromatin organization] 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:0007050 [cell cycle arrest] GO:0007605 [sensory perception of sound] GO:0009611 [response to wounding] GO:0010033 [response to organic substance] GO:0010468 [regulation of gene expression] GO:0019827 [stem cell population maintenance] GO:0021781 [glial cell fate commitment] GO:0021879 [forebrain neuron differentiation] GO:0021983 [pituitary gland development] GO:0021984 [adenohypophysis development] GO:0021987 [cerebral cortex development] GO:0022409 [positive regulation of cell-cell adhesion] GO:0030178 [negative regulation of Wnt signaling pathway] GO:0030539 [male genitalia development] GO:0030858 [positive regulation of epithelial cell differentiation] GO:0030900 [forebrain development] GO:0030910 [olfactory placode formation] GO:0031490 [chromatin DNA binding] GO:0032526 [response to retinoic acid] GO:0035019 [somatic stem cell population maintenance] GO:0035198 [miRNA binding] GO:0042246 [tissue regeneration] GO:0042472 [inner ear morphogenesis] GO:0043281 [regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0043410 [positive regulation of MAPK cascade] GO:0043565 [sequence-specific DNA binding] GO:0043586 [tongue development] GO:0044212 [transcription regulatory region DNA binding] GO:0044798 [nuclear transcription factor complex] GO:0045165 [cell fate commitment] GO:0045596 [negative regulation of cell differentiation] GO:0045597 [positive regulation of cell differentiation] GO:0045665 [negative regulation of neuron differentiation] GO:0045666 [positive regulation of neuron differentiation] GO:0045668 [negative regulation of osteoblast differentiation] GO:0045747 [positive regulation of Notch signaling pathway] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046148 [pigment biosynthetic process] GO:0046982 [protein heterodimerization activity] GO:0048286 [lung alveolus development] GO:0048568 [embryonic organ development] GO:0048646 [anatomical structure formation involved in morphogenesis] GO:0048663 [neuron fate commitment] GO:0048839 [inner ear development] GO:0048852 [diencephalon morphogenesis] GO:0048863 [stem cell differentiation] GO:0050680 [negative regulation of epithelial cell proliferation] GO:0050767 [regulation of neurogenesis] GO:0050910 [detection of mechanical stimulus involved in sensory perception of sound] GO:0050973 [detection of mechanical stimulus involved in equilibrioception] GO:0060042 [retina morphogenesis in camera-type eye] GO:0060235 [lens induction in camera-type eye] GO:0060441 [epithelial tube branching involved in lung morphogenesis] GO:0070848 [response to growth factor] GO:0090090 [negative regulation of canonical Wnt signaling pathway] GO:0097150 [neuronal stem cell population maintenance]