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Description for Protein PITX2

paired-like homeodomain 2
11 total interacting proteins; 4 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(secretome: 1)
Summary:
This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. The encoded protein acts as a transcription factor and regulates procollagen lysyl hydroxylase gene expression. This protein plays a role in the terminal differentiation of somatotroph and lactotroph cell phenotypes, is involved in the development of the eye, tooth and abdominal organs, and acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. Mutations in this gene are associated with Axenfeld-Rieger syndrome, iridogoniodysgenesis syndrome, and sporadic cases of Peters anomaly. A similar protein in other vertebrates is involved in the determination of left-right asymmetry during development. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • HOX: Homeodomain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04686
    KEGG - Pathway(s):
    hsa04350
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Paired like homeodomain transcription factor 2; PTX2; RIEG1; RIEG; Solurshin; Paired-like homeodomain transcription factor 2 isoform a; RGS; ARP1; Brx1; IDG2; IGDS; IHG2; IGDS2; IRID2; Otlx2; MGC20144; MGC111022; All1-responsive gene 1; Rieg bicoid-related homeobox transcription factor 1; Paired-like homeodomain transcription factor 2 isoform c; Paired-like homeodomain transcription factor 2 isoform b; RS
    Approved Symbol:
    PITX2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 5
    Human (de-) phosphorylation sites: 5; 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:

  • Iridogoniodysgenesis, type 2(Pd);
  • Peters anomaly(Pd);
  • Rieger syndrome, type 1(Pd);
  • Ring dermoid of cornea(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 03328 Entrez Gene ID: 5308 OMIM ID: 601542 Swissprot Accession: Q99697;