Transcription factor SOX-2

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• DNA binding Source: UniProtKB <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • "SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development."
    Kelberman D., de Castro S.C., Huang S., Crolla J.A., Palmer R., Gregory J.W., Taylor D., Cavallo L., Faienza M.F., Fischetto R., Achermann J.C., Martinez-Barbera J.P., Rizzoti K., Lovell-Badge R., Robinson I.C., Gerrelli D., Dattani M.T.
    J Clin Endocrinol Metab 93:1865-1873(2008) [PubMed] [Europe PMC] [Abstract]
  • "Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss."
    Rajab A., Kelberman D., de Castro S.C., Biebermann H., Shaikh H., Pearce K., Hall C.M., Shaikh G., Gerrelli D., Grueters A., Krude H., Dattani M.T.
    Hum Mol Genet 17:2150-2159(2008) [PubMed] [Europe PMC] [Abstract]
  • "Purification of human transcription factors Nanog and Sox2, each in complex with Skp, an Escherichia coli periplasmic chaperone."
    Ha S.C., Pereira J.H., Jeong J.H., Huh J.H., Kim S.H.
    Protein Expr Purif 67:164-168(2009) [PubMed] [Europe PMC] [Abstract]
• DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
• DNA-binding transcription factor activity Source: UniProtKBInferred from direct assayⁱ
  • "Aberrant expression of SOX2 upregulates MUC5AC gastric foveolar mucin in mucinous cancers of the colorectum and related lesions."
    Park E.T., Gum J.R., Kakar S., Kwon S.W., Deng G., Kim Y.S.
    Int J Cancer 122:1253-1260(2008) [PubMed] [Europe PMC] [Abstract]
• DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
• miRNA binding Source: UniProtKBInferred from direct assayⁱ
  • "Oct4/Sox2-regulated miR-302 targets cyclin D1 in human embryonic stem cells."
    Card D.A., Hebbar P.B., Li L., Trotter K.W., Komatsu Y., Mishina Y., Archer T.K.
    Mol Cell Biol 28:6426-6438(2008) [PubMed] [Europe PMC] [Abstract]
• RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• sequence-specific DNA binding Source: MGIInferred from direct assayⁱ
  • "Foxp1 coordinates cardiomyocyte proliferation through both cell-autonomous and nonautonomous mechanisms."
    Zhang Y., Li S., Yuan L., Tian Y., Weidenfeld J., Yang J., Liu F., Chokas A.L., Morrisey E.E.
    Genes Dev. 24:1746-1757(2010) [PubMed] [Europe PMC] [Abstract]
• transcription regulatory region sequence-specific DNA binding Source: UniProtKBInferred from direct assayⁱ
  • "Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss."
    Rajab A., Kelberman D., de Castro S.C., Biebermann H., Shaikh H., Pearce K., Hall C.M., Shaikh G., Gerrelli D., Grueters A., Krude H., Dattani M.T.
    Hum Mol Genet 17:2150-2159(2008) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• adenohypophysis development Source: Ensembl
• anatomical structure morphogenesis Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• cell cycle arrest Source: UniProtKBInferred from direct assayⁱ
  • "SOX2 is frequently downregulated in gastric cancers and inhibits cell growth through cell-cycle arrest and apoptosis."
    Otsubo T., Akiyama Y., Yanagihara K., Yuasa Y.
    Br J Cancer 98:824-831(2008) [PubMed] [Europe PMC] [Abstract]
• cell differentiation Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• cell fate commitment Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• chromatin organization Source: UniProtKB <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#nas">GO evidence code guide</a></p> Non-traceable author statementⁱ
  • Ref.1

    "The cDNA sequence and chromosomal location of the human SOX2 gene."
    Stevanovic M., Zuffardi O., Collignon J., Lovell-Badge R., Goodfellow P.
    Mamm. Genome 5:640-642(1994) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
• cytokine-mediated signaling pathway Source: Reactome
• endodermal cell fate specification Source: MGIInferred from direct assayⁱ
  • "Pluripotency factors regulate definitive endoderm specification through eomesodermin."
    Teo A.K., Arnold S.J., Trotter M.W., Brown S., Ang L.T., Chng Z., Robertson E.J., Dunn N.R., Vallier L.
    Genes Dev 25:238-250(2011) [PubMed] [Europe PMC] [Abstract]
• eye development Source: UniProtKB <p>Inferred from Expression Pattern</p> <p>Covers cases where the annotation is inferred from the timing or location of expression of a gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iep">GO evidence code guide</a></p> Inferred from expression patternⁱ
  • "SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development."
    Kelberman D., de Castro S.C., Huang S., Crolla J.A., Palmer R., Gregory J.W., Taylor D., Cavallo L., Faienza M.F., Fischetto R., Achermann J.C., Martinez-Barbera J.P., Rizzoti K., Lovell-Badge R., Robinson I.C., Gerrelli D., Dattani M.T.
    J Clin Endocrinol Metab 93:1865-1873(2008) [PubMed] [Europe PMC] [Abstract]
• forebrain development Source: UniProtKBInferred from expression patternⁱ
  • "SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development."
    Kelberman D., de Castro S.C., Huang S., Crolla J.A., Palmer R., Gregory J.W., Taylor D., Cavallo L., Faienza M.F., Fischetto R., Achermann J.C., Martinez-Barbera J.P., Rizzoti K., Lovell-Badge R., Robinson I.C., Gerrelli D., Dattani M.T.
    J Clin Endocrinol Metab 93:1865-1873(2008) [PubMed] [Europe PMC] [Abstract]
• glial cell fate commitment Source: UniProtKBNon-traceable author statementⁱ
  • "Sox-2 is expressed by glial and progenitor cells and Pax-6 is expressed by neuroblasts in the human subventricular zone."
    Baer K., Eriksson P.S., Faull R.L., Rees M.I., Curtis M.A.
    Exp Neurol 204:828-831(2007) [PubMed] [Europe PMC] [Abstract]
• inner ear development Source: UniProtKBInferred from expression patternⁱ
  • "Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss."
    Rajab A., Kelberman D., de Castro S.C., Biebermann H., Shaikh H., Pearce K., Hall C.M., Shaikh G., Gerrelli D., Grueters A., Krude H., Dattani M.T.
    Hum Mol Genet 17:2150-2159(2008) [PubMed] [Europe PMC] [Abstract]
• negative regulation of canonical Wnt signaling pathway Source: UniProtKBInferred from direct assayⁱ
  • "SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development."
    Kelberman D., de Castro S.C., Huang S., Crolla J.A., Palmer R., Gregory J.W., Taylor D., Cavallo L., Faienza M.F., Fischetto R., Achermann J.C., Martinez-Barbera J.P., Rizzoti K., Lovell-Badge R., Robinson I.C., Gerrelli D., Dattani M.T.
    J Clin Endocrinol Metab 93:1865-1873(2008) [PubMed] [Europe PMC] [Abstract]
• negative regulation of epithelial cell proliferation Source: UniProtKBInferred from direct assayⁱ
  • "SOX2 is frequently downregulated in gastric cancers and inhibits cell growth through cell-cycle arrest and apoptosis."
    Otsubo T., Akiyama Y., Yanagihara K., Yuasa Y.
    Br J Cancer 98:824-831(2008) [PubMed] [Europe PMC] [Abstract]
• negative regulation of neuron differentiation Source: UniProtKB
• negative regulation of transcription by RNA polymerase II Source: UniProtKB
• neuronal stem cell population maintenance Source: UniProtKB
• osteoblast differentiation Source: UniProtKBInferred from direct assayⁱ
  • "Forced expression of Sox2 or Nanog in human bone marrow derived mesenchymal stem cells maintains their expansion and differentiation capabilities."
    Go M.J., Takenaka C., Ohgushi H.
    Exp Cell Res 314:1147-1154(2008) [PubMed] [Europe PMC] [Abstract]
• pituitary gland development Source: UniProtKBInferred from expression patternⁱ
  • "SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development."
    Kelberman D., de Castro S.C., Huang S., Crolla J.A., Palmer R., Gregory J.W., Taylor D., Cavallo L., Faienza M.F., Fischetto R., Achermann J.C., Martinez-Barbera J.P., Rizzoti K., Lovell-Badge R., Robinson I.C., Gerrelli D., Dattani M.T.
    J Clin Endocrinol Metab 93:1865-1873(2008) [PubMed] [Europe PMC] [Abstract]
• positive regulation of cell-cell adhesion Source: Ensembl
• positive regulation of cell differentiation Source: Ensembl
• positive regulation of MAPK cascade Source: UniProtKBInferred from direct assayⁱ
  • "Forced expression of Sox2 or Nanog in human bone marrow derived mesenchymal stem cells maintains their expansion and differentiation capabilities."
    Go M.J., Takenaka C., Ohgushi H.
    Exp Cell Res 314:1147-1154(2008) [PubMed] [Europe PMC] [Abstract]
• positive regulation of transcription, DNA-templated Source: UniProtKBInferred from direct assayⁱ
  • "Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss."
    Rajab A., Kelberman D., de Castro S.C., Biebermann H., Shaikh H., Pearce K., Hall C.M., Shaikh G., Gerrelli D., Grueters A., Krude H., Dattani M.T.
    Hum Mol Genet 17:2150-2159(2008) [PubMed] [Europe PMC] [Abstract]
• positive regulation of transcription by RNA polymerase II Source: UniProtKBInferred from direct assayⁱ
  • "Aberrant expression of SOX2 upregulates MUC5AC gastric foveolar mucin in mucinous cancers of the colorectum and related lesions."
    Park E.T., Gum J.R., Kakar S., Kwon S.W., Deng G., Kim Y.S.
    Int J Cancer 122:1253-1260(2008) [PubMed] [Europe PMC] [Abstract]
• regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKBInferred from direct assayⁱ
  • "SOX2 is frequently downregulated in gastric cancers and inhibits cell growth through cell-cycle arrest and apoptosis."
    Otsubo T., Akiyama Y., Yanagihara K., Yuasa Y.
    Br J Cancer 98:824-831(2008) [PubMed] [Europe PMC] [Abstract]
• regulation of gene expression Source: UniProtKB <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "Regulation of self-renewal and pluripotency by Sox2 in human embryonic stem cells."
    Fong H., Hohenstein K.A., Donovan P.J.
    Stem Cells 26:1931-1938(2008) [PubMed] [Europe PMC] [Abstract]
• regulation of transcription, DNA-templated Source: HGNC-UCLInferred from direct assayⁱ
  • "Core transcriptional regulatory circuitry in human embryonic stem cells."
    Boyer L.A., Lee T.I., Cole M.F., Johnstone S.E., Levine S.S., Zucker J.P., Guenther M.G., Kumar R.M., Murray H.L., Jenner R.G., Gifford D.K., Melton D.A., Jaenisch R., Young R.A.
    Cell 122:947-956(2005) [PubMed] [Europe PMC] [Abstract]
• response to growth factor Source: UniProtKBInferred from direct assayⁱ
  • "Forced expression of Sox2 or Nanog in human bone marrow derived mesenchymal stem cells maintains their expansion and differentiation capabilities."
    Go M.J., Takenaka C., Ohgushi H.
    Exp Cell Res 314:1147-1154(2008) [PubMed] [Europe PMC] [Abstract]
• response to wounding Source: UniProtKBInferred from expression patternⁱ
  • "Stem cell markers in the human posterior limbus and corneal endothelium of unwounded and wounded corneas."
    McGowan S.L., Edelhauser H.F., Pfister R.R., Whikehart D.R.
    Mol Vis 13:1984-2000(2007) [PubMed] [Europe PMC] [Abstract]
• somatic stem cell population maintenance Source: UniProtKBInferred from direct assayⁱ
  • "MicroRNA-145 regulates OCT4, SOX2, and KLF4 and represses pluripotency in human embryonic stem cells."
    Xu N., Papagiannakopoulos T., Pan G., Thomson J.A., Kosik K.S.
    Cell 137:647-658(2009) [PubMed] [Europe PMC] [Abstract]
• tissue regeneration Source: Ensembl

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

• UniProt annotation
• GO - Cellular component

Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseaseⁱ

<p>This subsection of the 'Pathology and Biotech' section describes the use of a specific protein in the biotechnological industry.<p><a href='/help/biotechnological_use' target='_top'>More...</a></p>Biotechnological useⁱ

Keywords - Diseaseⁱ

Organism-specific databases

Miscellaneous databases

Genetic variation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Amino acid modifications

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationⁱ

Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

Secondary structure

3D structure databases

Miscellaneous databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Compositional bias

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequenceⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

        10         20         30         40         50
MYNMMETELK PPGPQQTSGG GGGNSTAAAA GGNQKNSPDR VKRPMNAFMV 
        60         70         80         90        100
WSRGQRRKMA QENPKMHNSE ISKRLGAEWK LLSETEKRPF IDEAKRLRAL 
       110        120        130        140        150
HMKEHPDYKY RPRRKTKTLM KKDKYTLPGG LLAPGGNSMA SGVGVGAGLG 
       160        170        180        190        200
AGVNQRMDSY AHMNGWSNGS YSMMQDQLGY PQHPGLNAHG AAQMQPMHRY 
       210        220        230        240        250
DVSALQYNSM TSSQTYMNGS PTYSMSYSQQ GTPGMALGSM GSVVKSEASS 
       260        270        280        290        300
SPPVVTSSSH SRAPCQAGDL RDMISMYLPG AEVPEPAAPS RLHMSQHYQS 
       310 
GPVPGTAING TLPLSHM                                     

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautionⁱ

Natural variant

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 100% Identity
• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Genetic variation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. Human chromosome 3
   Human chromosome 3: entries, gene names and cross-references to MIM
2. Human entries with genetic variants
   List of human entries with genetic variants
3. Human variants curated from literature reports
   Index of human variants curated from literature reports
4. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
5. PDB cross-references
   Index of Protein Data Bank (PDB) cross-references