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Description for Protein VSX2

visual system homeobox 2
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • HOX: Homeodomain

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K09336
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    HOX10; Homeobox 10; CEH10 homeodomain-containing homolog
    Approved Symbol:
    VSX2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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, cataracts, and iris abnormalities(Pd);
  • Microphthalmia, isolated 2(Pd);
  • Microphthalmia, isolated, with coloboma 3(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 1 : 0
  • Additional Identifiers:

    HPRD: 08852 Entrez Gene ID: 338917 OMIM ID: 142993 Swissprot Accession: P58304