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Description for Protein SOX2

SRY (sex determining region Y)-box 2
5 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
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] (PubMed Links)
Domains and Motifs:
  • HMG: high mobility group
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09267
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    ANOP3; MGC2413; Transcription factor SOX 2; SRY related HMG box gene 2; Sex determining region Y box 2
    Approved Symbol:
    SOX2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • Microphthalmia, syndromic 3(Pd);
  • Optic nerve hypoplasia and abnormalities of the central nervous system(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 08921 Entrez Gene ID: 6657 OMIM ID: 184429 Swissprot Accession: P48431;